Systemic sclerosis in a patient with Turner syndrome: A case report and a review of associated autoimmune diseases

Turner's syndrome (TS) is one of the most common sex chromosome disorders caused by numeric or structural abnormalities of the X chromosome. A case of TS and Systemic Sclerosis (SSc) is reported, along with a summary of all associated TS/autoimmune diseases described in English literature from 1948 to 2020, using a search in MEDLINE (Pubmed). A 32-year-old woman affected by TS was seen due to inflammatory arthralgia in small joints and dysphagia, as well as a two-year history of Raynaud's phenomenon and puffy hands. Biohumoural laboratory tests and severity scales revealed changes that allowed us to diagnose SSc. This case report emphasises the role played by sex hormones and chromosomal abnormalities in the pathogenesis of autoimmune disorders, and to our knowledge, this is the only case described in literature of a TS patient who developed SSc.

El síndrome de Turner (TS) es uno de los trastornos cromosómicos sexuales más comunes causados por anomalías numéricas o estructurales del cromosoma X. En este documento informamos de un caso de TS y esclerosis sistémica (SSc) y resumimos toda la asociación de TS/enfermedades autoinmunes descrita en la literatura inglesa de 1948 a 2020, encontrada buscando en MEDLINE (PubMed). Una mujer de 32 arios afectada por TS acudió a nuestra observación debido a la artralgia inflamatoria en pequenas articulaciones y disfagia y 2 anos de historia del fenómeno de Raynaud y las manos hinchadas. El laboratorio biohumoral y las pruebas instrumentales revelaron alteraciones que nos permitieron diagnosticar SSc. Nuestro informe de caso hace hincapié en el papel desempefíado por las hormonas sexuales y las anomalías cromosómicas en la patogénesis del trastorno autoinmune; y hasta nuestro conocimiento, este es el único caso descrito en la literatura de un paciente TS que desarrolló SSc.

Turner syndrome associated with Down syndrome: about a case / Síndrome Turner asociado a síndrome Down: a propósito de un caso

The coexistence of double aneuploidy of Down and Turner syndromes is rare; most cases have been due to double mitotic errors. The objective of the study was to report a case with monosomy of the X chromosome and trisomy of chromosome 21, in mosaic variety, highlighting the phenotypic effect that the presence of different chromosomal abnormalities can produce and compare with those reported in the literature. A 10-year-old Ecuadorian female, born to a multipregnant mother with 46 years at conception, is seen in consultation with a predominant clinical phenotype of Down syndrome, associated with menarche, presence of pubic and axillary villu, where a karyotype is verified 45 X[7]/47XX+ 21 [3]/46, X, der (X)(: p11.1-> q11.1)[1]/46,XX [1]. The present case is a double Turner-Down aneuploidy, with predominantly X monosomy cell line, who shows important mental retardation and some signs of puberal development not usually in Turner syndrome. These features highlight the clinical importance of doing a karyotype in mental retardation cases and searching low mosaics of another aneuploidies in atypical cases. Its complex chromosomal formula and support with molecular cytogenetics allowed diagnostic confirmation and genetic counseling.

La coexistencia de doble aneuploidía de los síndromes de Down y Turner es rara; la mayoría de los casos se han debido a dobles errores mitóticos. Reportar un caso con trisomía del cromosoma 21 y monosomía del cromosoma en X, en variedad mosaico, que curiosamente presenta un despertar puberal precoz y comparar con los reportados en la literatura. Paciente ecuatoriana de sexo femenino, de 10 años de edad, nacida de madre multigesta con 46 años a la concepción, que es vista en consulta con fenotipo clínico predominante de Síndrome Down, asociado a menarquia y telarquia, donde se constata un cariotipo. El presente caso es el primero informado de mosaicismo de doble aneuploidía de Turner-Down asociado con un despertar puberal precoz. Su fórmula cromosómica compleja y el apoyo con la citogenética molecular permitió la confirmación diagnostica y la asesoría genética.

Variantes citogenéticas en pacientes con síndrome de Turner diagnosticadas en un hospital de tercer nivel de atención en Ecuador / Cytogenetic variants in patients with Turner syndrome diagnosed in a third level care hospital in Ecuador

Resumen Introducción: El Síndrome de Turner (ST) es una alteración cromosómica sexual causada por la ausencia parcial o completa del cromosoma X, además de mosaicismos y otras alteraciones estructurales del cromosoma X o Y; está presente en 1 de 2500 nacidas vivas. Objetivo: Describir las variantes citogenéticas de pacientes con síndrome de Turner y evaluar su asociación con el fenotipo de presentación y la edad del diagnóstico. Método: Estudio retrospectivo de corte transversal de una serie de 82 casos de síndrome de Turner. Los cariotipos fueron realizados utilizando el medio RPMI-1640; las preparaciones de cromosomas se obtuvieron utilizando técnicas estándar y se analizaron mediante bandas GTG con una resolución de 400-450 bandas, donde se contó con 20-50 metafases para reducir la probabilidad de no detección de mosaicismo. Resultados: 45 (55.6%) fueron diagnosticadas, con monosomía clásica del cromosoma X, mientras 29 (35,8%) mostraron anomalías estructurales del cromosoma X y 7 (8,6%) se asociaron a mosaicos numéricos del cromosoma X. Solo 21 (26%) pacientes fueron diagnosticadas por debajo de los 12 años, mientras el resto 60 (74%) se detectaron entre la adolescencia y la adultez. La baja estatura fue una característica universal en todos los grupos de estudio. Conclusiones: Las fórmulas cromosómicas en el síndrome de Turner pueden ser muy variadas y tener diversas implicaciones en el fenotipo; se destaca la baja talla como un criterio clínico relevante en la sospecha clínica.

Abstract Introduction: Turner Syndrome (TS) is a sexual chromosomal alteration caused by the partial or complete absence of the X chromosome, in addition to mosaicisms and other structural alterations of the X or Y chromosome; It is present in 1 in 2,500 live births. Objective: To describe the cytogenetic variants of Turner syndrome patients and to evaluate their association with the phenotype at presentation and age at diagnosis. Methods: Retrospective cross-sectional study of a series of 82 cases of Turner syndrome. Karyotypes were performed using RPMI-1640 medium; Chromosome preparations were obtained using standard techniques and analyzed by GTG banding with a resolution of 400-450 bands where 20-50 metaphases were counted to reduce the probability of missing mosaicism. Results: 45 (55.6%) were diagnosed with classic monosomy of the X chromosome, while 29 (35.8%) showed structural abnormalities of the X chromosome and 7 (8.6%) were associated with numerical mosaics of the X chromosome. Only 21 (26%) patients were diagnosed under 12 years of age, while the rest 60 (74%) were detected between adolescence and adulthood. Short stature was a universal characteristic in all study groups. Conclusions: The chromosomal formulas in Turner syndrome can be variable and have different implications in the phenotype; short stature stands out as a relevant clinical criterion in clinical suspicion.

Síndrome de Turner / Turner's Syndrome / Sindrome de Turner

Introducción: el síndrome de Turner es una enfermedad genética caracterizada por la pérdida total o parcial de un cromosoma X, siendo sus características fundamentales la talla baja, la disgenesia gonadal y hallazgos fenotípicos característicos. Tiene una amplia variabilidad en su forma de presentación. Grandes estudios epidemiológicos muestran que la morbilidad aumenta en mujeres con este síndrome, debido a una amplia gama de enfermedades asociadas, sobre todo cardiovasculares, que eleva la mortalidad de manera significativa. Objetivo: realizar una revisión de la literatura, en base a la presentación de un caso clínico, para recabar información sobre las ultimas pautas de manejo y presentar los nuevos objetivos de tratamiento. Conclusiones: el diagnóstico temprano es fundamental, y tiene características propias y criterios de sospecha según la etapa en la que se efectúa, el reto actual en el manejo de estas pacientes consiste en la formación de un equipo médico multidisciplinario, conformado por una amplia gama de especialistas para el adecuado seguimiento, con el fin de disminuir las complicaciones y ayudar a que la paciente alcance sus objetivos para una vida plena. Se presenta el caso de una paciente con síndrome de Turner vista por el equipo médico en el Hospital Pediátrico del Centro Hospitalario Pereira Rossell, Montevideo-Uruguay.

Introduction: Turner's syndrome is a genetic disease characterized by total or partial loss of an X chromosome, its main features being low height, gonadal dysgenesis and characteristic phenotypic findings. It has a wide variability in its form of presentation. Large epidemiological studies show that morbidity increases in women with this syndrome, due to a wide range of associated diseases, especially cardiovascular disease, which significantly raises mortality. Objectives: to carry out a review of the literature, based on a clinical case in order to gather information regarding the latest treatment guidelines and present the new treatment goals. Conclusions: early diagnosis is essential, and has its own characteristics and suspicion criteria according to the stage in which it is carried out. The present challenge regarding the management of these patients consists of the training of a multidisciplinary medical team made up of a wide range of specialists able to carry out proper follow-up, in order to reduce complications and help the patient live a full life. We present a case of a patient with Turner's syndrome assisted at the Pereira Rossell Hospital Center in Montevideo-Uruguay.

Introdução: a síndrome de Turner é uma doença genética caracterizada pela perda total ou parcial de um cromossomo X, sendo suas características fundamentais de baixa estatura, disgenesia gonadal e achados fenotípicos característicos. Tem uma ampla variabilidade em sua forma de apresentação. Consideráveis (grandes, amplos, extensos) estudos epidemiológicos mostram que a morbidade aumenta em mulheres com essa síndrome, devido a uma ampla gama de doenças associadas, especialmente cardiovasculares, o que aumenta significativamente a mortalidade. Objetivos: realizar uma revisão da literatura, a partir da apresentação de um caso clínico, reunir informações sobre as últimas diretrizes de tratamento e apresentar os novos objetivos do tratamento. Conclusões: o diagnóstico precoce é fundamental, e possui características próprias e critérios de suspeita de acordo com a etapa em que é realizado, o desafio atual na gestão desses pacientes consiste na formação de uma equipe médica multidisciplinar, formada por uma ampla gama de especialistas para o acompanhamento adequado, a fim de reduzir complicações e ajudar a paciente a alcançar uma vida plena. Apresentamos o caso de uma paciente com síndrome de Turner atendido pela equipe médica do Hospital Pediátrico do Centro Hospitalar Pereira Rossell, Montevidéu-Uruguai.

Efeito inibitório da via auditiva eferente na síndrome de Turner / Efferent Auditory Pathways Inhibition in Turner syndrome

RESUMO Objetivo investigar o efeito inibitório da via auditiva eferente na síndrome de Turner e relacionar com o perfil citogenético. Método estudo descritivo transversal com grupo de comparação. Amostra: Grupo estudo formado por 40 pacientes com síndrome de Turner (17,6 anos); e Grupo controle constituído por 54 indivíduos (18,9 anos), do sexo feminino sem síndrome. Os indivíduos selecionados foram submetidos à pesquisa do efeito inibitório da via auditiva eferente. Resultados A média do Efeito inibitório da via auditiva eferente no grupo estudo na orelha direita foi 0,4 dB e no grupo comparação foi de 1,9 dB, entretanto na orelha esquerda a média do efeito inibitório da via auditiva eferente foi 1,4 dB no grupo estudo e 0,8 dB no grupo comparação. O efeito inibitório da via auditiva eferente foi presente em 14 indivíduos com monossomia e em 15 com outras alterações citogenéticas. Conclusão No grupo estudo o valor do efeito inibitório da via auditiva eferente foi significantemente maior na orelha esquerda e significativamente menor que o grupo controle na direita. Não houve diferença significativa no efeito inibitório da via auditiva eferente entre os tipos de cariótipo.

ABSTRACT Purpose The goal of this study is to investigate the efferent auditory pathways inhibition in Turner's syndrome and to relate it to the cytogenetic profile. Methods This is a cross-sectional study with a comparison group. A sample with 94 participants divided into two groups: The study group was a sample of 40 patients diagnosed with Turner's syndrome (17.6 years of age). The control group was composed of 54 volunteers (18.9 years of age), female, without syndrome. The selected individuals were submitted to efferent auditory pathways inhibition research. Results The mean of the inhibitory effect of the efferent auditory pathway in the study group in the right ear was 0.4 dB and in the comparison group it was 1.9 dB, however in the left ear the mean of the inhibitory effect of the efferent auditory pathway was 1.4 dB in the study group and 0.8 dB in the comparison group. The inhibitory effect of the efferent auditory pathway was present in 14 individuals with monosomy and in 15 with other cytogenetic alterations. Conclusions In the study group, the efferent auditory pathways inhibition value was significantly higher in the left ear and significantly lower than the control group in the right ear. There was no significant difference in efferent auditory pathways inhibition of right ear and left ear between the karyotype types.

The bone densitometry is normal in Turner syndrome prepubertal patients after height age correction / A densitometria óssea é normal em pacientes pré-púberes com síndrome de turner quando corrigida pela idade estatura

Abstract Objectives: to evaluate the bone mass in prepubertal patients with Turner Syndrome (TS) according to height age (HA) and verify the influence of karyotype and adiposity. Methods: retrospective and analytical study of prepubertal TS patients. The variables analyzed were: karyotype, age at bone densitometry (BD), height, body mass index (BMI) and BD result. The result of the BD was corrected using HA. BMI and BD were calculated on Z score for chronological age (CA) and for HA. Results: thirty-seven prepubertal patients were selected and after exclusion criteria, 13 cases between 10 and 13 years old were included in the study. The BD for HA was significantly higher than for CA (0.39 ± 1.18 x −1.62 ± 1.32), without karyotype (p=0.369) and BMI (p=0.697) influence. Conclusion: prepubertal TS patients present normal BD when corrected for HA, without influence of karyotype and BMI.

Resumo Objetivos: avaliar a massa óssea de pacientes pré-púberes com Síndrome de Turner (ST) de acordo com a idade estatura (IE) e verificar a influência do cariótipo e da adiposidade. Métodos: estudo retrospectivo e analítico de pacientes pré-púberes com ST. As variáveis analisadas foram: cariótipo, idade na realização da densitometria óssea (DO); estatura, índice de massa corporal (IMC) e resultado da DO. Realizou-se a correção do resultado da DO utilizando a IE. O IMC e a DO foram calculados em Z score para idade cronológica (IC) e para IE. Resultados: foram selecionadas 37 pacientes pré-púberes e após critério de exclusão foram incluídas no estudo 13 casos entre 10 e 13 anos de idade. A DO para IE foi significativamente maior que para IC (0,39 ± 1,18 × −1,62 ± 1,32), sem influência do cariótipo (p=0,369) e do IMC (p=0,697). Conclusão: pacientes pré-púberes com ST apresentam DO normal quando corrigida para IE, sem influência do cariótipo e do IMC.

Association between cytogenetic alteration and the audiometric profile of individuals with Turner syndrome / Relação entre alteração citogenética e o perfil audiométrico de indivíduos com síndrome de Turner

Abstract Introduction: Turner syndrome is a frequent genetic disorder that affects female individuals and covers a large phenotypic variability. Scientific literature suggests an association between hearing loss and Turner syndrome, but it remains a controversial topic. Objective: To associate the cytogenetic alteration with the audiometric profile of individuals with Turner syndrome. Methods: Cross-sectional study, with a hospital-based, convenience sample. Patients diagnosed with Turner syndrome were included and those with difficulty understanding the audiometry and/or other associated syndromes were excluded. The participants were studied with pure tone audiometry. Results: Of the 65 patients included, 36.9% had X chromosome monosomy and 63.0% had other alterations. Regarding the audiometry, 64.6% had normal thresholds and 35.3% had hearing impairment. Of these, 30.4% had hybrid hearing loss, 26.0% alteration at 6 and/or 8 kHz, 17.3% had conductive hearing loss, 13.0% sensorineural loss and 13.0% had mixed hearing loss. We observed that the mild degree was the most frequent one. There was no statistically significant association between the cytogenetic type of Turner syndrome and the presence or absence of hearing loss, or with the type and degree of hearing loss. Conclusion: The cytogenetic alteration in Turner syndrome was not associated with the audiometric profile, which showed variability regarding the type and degree of hearing loss.

Resumo Introdução: A síndrome de Turner é uma alteração frequente e genética que acomete indivíduos do sexo feminino e abrange grande variabilidade fenotípica. A literatura científica sugere uma relação entre perda auditiva e síndrome de Turner, porém ainda é um tema controverso. Objetivo: Relacionar a alteração citogenética com o perfil audiométrico de indivíduos com síndrome de Turner. Método: Estudo transversal, com amostra de conveniência, de base hospitalar. Foram incluídas pacientes com diagnóstico de síndrome de Turner e excluídas as com dificuldade para compreender a audiometria e/ou outras síndromes associadas. As participantes foram submetidas à audiometria tonal. Resultados: Das 65 pacientes incluídas, 36,9% apresentaram monossomia do cromossomo X e 63,0%, outras alterações. Com relação à audiometria, 64,6% apresentaram limiares dentro da normalidade e 35,3% alteração auditiva. Dessas, 30,4% apresentaram perda auditiva híbrida, 26,0% alteração em 6 e/ou 8 KHz; 17,3% perda auditiva condutiva, 13,0% perda neurossensorial e 13,0% perda auditiva mista. Observamos que o grau leve foi o mais frequente. Não foi observada associação estatiscamente significativa entre o tipo citogenético da síndrome de Turner e a presença ou não perda auditiva, ou com o tipo e grau de perda auditiva. Conclusão: A alteração citogenética na síndrome de Turner não teve associação com o perfil audiométrico, o qual apresentou variabilidade quanto ao tipo e grau da perda auditiva.

Diagnósticos de enfermagem na síndrome de Turner / Nursing diagnoses in Turner syndrome

A síndrome de Turner é uma doença genética rara e possui repercussão importante na assistência em saúde destas pacientes. Apesar da ST não ser incomum, ainda existem lacunas na literatura acerca da assistência de enfermagem. O objetivo do trabalho foi inferir diagnósticos de enfermagem a partir das condições clínicas apresentadas pelas pacientes com síndrome de Turner (ST), conforme a taxonomia II NANDA-I. Trata-se de um estudo transversal e retrospectivo, de abordagem quantitativa. A amostra foi constituída por 59 pacientes com ST, diagnosticadas no período de 1993 a 2019. Os dados foram extraídos dos seus prontuários e submetidos à inferência diagnóstica pautados na taxonomia II NANDA-I. O julgamento clínico ocorreu com as principais dismorfias descritas entre as pacientes. No que tange aos resultados, a constituição cromossômica mais frequente foi a monossomia do cromossomo X (40,7%) e a média de idade do diagnóstico das pacientes foi de 15,9 anos (variou de 1 mês a 34 anos). As principais dismorfias descritas foram: baixa estatura, cúbito valgo, pectus excavatum e palato ogival. Os diagnósticos inferidos para a população estudada foram isolamento social, mobilidade física prejudicada, deglutição prejudicada, baixa autoestima situacional e padrão respiratório ineficaz. Concluiu-se que a proposição de diagnósticos de enfermagem possibilita qualificar a assistência destas pacientes, a partir de evidências no cuidado à pacientes com doenças raras.

Turner's syndrome (TS) is a rare genetic disease and has an important impact on the health care of these patients. Although TS is not uncommon, there are still gaps in the literature about nursing care. The objective of the study was to infer nursing diagnoses from the clinical conditions presented by patients with Turner syndrome, according to NANDA-I taxonomy II. This is a cross-sectional and retrospective study, with a quantitative approach. The sample consisted of 59 patients with TS, diagnosed from 1993 to 2019. The data were extracted from their medical records and submitted to diagnostic inference based on the NANDA-I taxonomy II. The clinical judgment occurred with the main dysmorphias described among the patients. Regarding the results, the most common chromosomal constitution was X chromosome monosomy (40.7%) and the mean age of the patients at diagnosis was 15.9 years (ranged from 1 month to 34 years). The main dysmorphias described were: short stature, ulna valgus, pectus excavatum, and ogival palate. The diagnoses inferred for the studied population were social isolation, impaired physical mobility, impaired swallowing, low situational self-esteem, and ineffective breathing patterns. It was concluded that the proposal of nursing diagnoses makes it possible improve the assistance of these patients, based on evidence in the care of patients with rare diseases.

Aportes al estudio de las relaciones entre memoria episódica y teoría de la mente / Contributions to the Study of the Relations Between Episodic Memory and Theory of Mind

Resumen La teoría de la mente emerge en el desarrollo con anterioridad a la memoria episódica, posibilitando a través de la capacidad de metarrepresentación el desdoblamiento y viaje mental que ella misma implica. Para la evaluación de los procesos se administraron las Historias Extrañas de Happé, el Test de las miradas, el Test de Aprendizaje Verbal España-Complutense y una tarea experimental a 20 mujeres con diagnóstico de Síndrome de Turner y sus respectivos controles. Los resultados indican dificultades en ambos procesos cognitivos y correlaciones entre la teoría de la mente e indicadores de memoria episódica de contenido y de la fuente. Se hipotetiza que la anatomía cerebral atípica, propia de esta población, traería problemas en el desarrollo de la teoría de la mente y esto, a su vez, podría asociarse con dificultades en los mecanismos de metarrepresentación y reexperimentación subjetiva de vivencias que la memoria episódica implica. Los resultados obtenidos permiten una mayor comprensión del perfil neuropsicológico de las mujeres con diagnóstico de Síndrome de Turner y podrían servir de insumo teórico para el diseño de estrategias clínicas y psicoeducativas que tiendan a fomentar, en esta población, las habilidades de teoría de la mente y memoria episódica.

Abstract The present study explores the relations between the cognitive and affective processes of theory of mind and verbal episodic memory in women diagnosed with Turner Syndrome, a chromosomal disorder caused by a missing or incomplete X chromosome in females. Women with this diagnostic present an atypical cerebral morphology affecting frontal and temporoparietal zones. These areas match the neuroanatomic substratum shared by both theory of mind and episodic memory. The concept of theory of mind refers to the ability to anticipate others' social behavior through the attribution and understanding of mental entities such as desires, beliefs, emotions and intentions. It is a complex skill that involves not only the mental representation of something that cannot be observed directly, but also the decentration of one's own perspective and the use of these skills to predict behaviors. This ability is composed by two different processes: a cognitive theory of mind that refers to the ability to make inferences about desires, beliefs and intentions of other people; and an affective theory of mind, related to the ability to infer others' emotions, understanding the affective mental states and adopting the point of view of the other person, without experiencing these emotions. In the particular case of women diagnosed with Turner Syndrome, there is evidence supporting the hypothesis that this population presents general difficulties in this ability, showing a greater deficit in cognitive theory of mind. On the other hand, episodic memory consists of the memory that one has of past experiences. This memory system is a psychological process of paramount importance for human beings, since it enables the remembrance of something that has happened a long time ago. It allows the person to re-experience events that occurred earlier in his or her life, involving the ability to generate meta-representational comments on how knowledge was obtained. This way, people revive, through self-awareness, previous experiences and also project similar experiences to the future. Episodic memory can be divided into the memory about the occurrence of an event (item memory) and the memory of the phenomenological context of the event, which involves the handling of spatial, temporal, emotional and perceptual information (source memory). It is considered that theory of mind has an earlier development than episodic memory, enabling through the capacity of meta-representation the unfolding and mental journey that episodic memory implies. In order to evaluate these processes, a battery of four tests was administered to 20 women diagnosed with Turner Syndrome and their respective controls: Happé Strange Stories, the Reading the Mind in the Eyes Test, the Spain-Complutense Verbal Learning Test and an experimental task. Results indicate difficulties in both cognitive processes, as well as correlations between theory of mind and indicators of item and source memory. A possible hypothesis could argue that the atypical cerebral anatomy of women diagnosed with Turner Syndrome would result in theory of mind deficits, and these in turn could be associated with difficulties in the capacities of meta-representation and subjective re-experimentation of past events needed by episodic memory. These results enable a better comprehension of the neuropsychological profile of women diagnosed with Turner Syndrome and could serve as a theoretical input for the design of clinical and psychoeducational strategies that tend to promote theory of mind and episodic memory in this population.

Birth of healthy neonate following preimplantation genetic diagnosis in a mother with mosaic Turner syndrome. Case report and review of the literature / Recién nacido sano después de diagnóstico genético preimplantatorio en una madre con síndrome de turner mosaico. reporte de caso y revisión de la literatura

RESUMEN Objetivos: reportar el caso de una paciente con síndrome de Turner en mosaico, a quien se le realizó un tratamiento de reproducción asistida con análisis genético preimplantatorio para aneuploidias, logrando el nacimiento de una niña sana con cariotipo normal, y realizar una revisión de la literatura sobre la utilidad del diagnóstico genético preimplantatorio en las mujeres con síndrome de Turner. Materiales y métodos: se presenta el caso de una mujer de 27 años, con diagnóstico de síndrome de Turner en mosaico y con alteración secundaria en la reserva ovárica, atendida en centro de referencia para el manejo de infertilidad en Medellín, Colombia, a quien se le realizó un tratamiento de fertilización in vitro con análisis genético preimplan-tatorio para prevenir la transmisión del síndrome de Turner a su descendencia. Se realizó una búsqueda de la literatura en las bases de datos Medline vía PubMed, Clinical Key, OVID, Embase, Lilacs, SciE- LO y Oxford Journals, con los siguientes términos: "Turner Syndrome", "Mosaic Turner", "Preim- plantation Genetic Screening", "Preimplantation Genetic Testing", "Preimplantation Genetic Diagnosis", "Pregnancy", "Successful pregnancy". Como criterios de inclusión se consideraron artículos tipo series y reportes de casos, cohortes y artículos de revisión desde enero de 1980 hasta junio de 2017, que incluyeran mujeres con síndrome de Turner embarazadas por medio de técnicas de fertilización in vitro, con sus propios óvulos, y que hubiesen sido sometidas a biopsia embrionaria para diagnóstico genético preimplantatorio. La búsqueda se limitó a los idiomas español e inglés. Resultados: un estudio cumplió con los criterios de inclusión. Tanto en este reporte como en nuestro caso, las pacientes con síndrome de Turner en mosaico se sometieron a varios ciclos de inyección intracitoplasmática de espermatozoides (ICSI) con sus propios óvulos, luego se realizó biopsia em- brionaria para análisis genético preimplantatorio utilizando diferentes técnicas. En ambos casos se logró la transferencia al útero de embriones euploides con el posterior nacimiento de niñas sanas con cariotipo normal. Conclusión: Las pacientes con ST mosaico podrían beneficiarse de la biopsia embrionaria y análisis genético preimplantatorio para prevenir la transmisión del defecto genético a su descendencia.

ABSTRACT Objectives: To report the case of a patient with mosaic Turner syndrome who underwent assisted reproduction treatment with preimplantation genetic testing for aneuploidy and gave birth to a healthy baby girl with normal karyotype; and to conduct a review of the literature on the usefulness of preimplantation genetic diagnosis in women with Turner syndrome. Materials and methods: A case of a 27 year-old woman diagnosed with mosaic Turner syndrome and secondary altered ovarian reserve, seen in a referral center for infertility management in Medellín, Colombia. The patient underwent in vitro fertilization followed by pre-implantation genetic testing to prevent transmission of Turner syndrome to her progeny. A literature search was conducted in the Medline via PubMed, Clinical Key, OVID, Embase, Lilacs, SciELO and Oxford Journals data- bases using the following terms: "Turner Syndrome," "Mosaic Turner," "Preimplantation Genetic Screening," "Preimplantation Genetic Testing," "Preimplantation Genetic Diagnosis," "Pregnancy," "Successful pregnancy." Inclusion criteria were case series and case reports, cohort studies and review articles published between January 1980 and June 2017 that included women with Turner syndrome achieving pregnancy by means of in vitro fertilization techniques with their own oocytes and who had undergone embryo biopsy for preimplantation genetic diagnosis. The search was limited to articles in Spanish and English. Results: one study met the inclusion criteria. Both in this report and in our case, patients with mosaic Turner syndrome underwent several cycles of intracytoplasmic sperm injection (ICSI) with their own eggs, then performed embryonic biopsy for preimplantation genetic analysis using different techniques. In both cases, euploid embryos were transferred to the uterus with the subsequent birth of healthy girls with normal karyotype. Conclusion: Patients with mosaic Turner syndrome could benefit from preimplantation biopsy and genetic analysis to prevent transmission of the genetic defect to their progeny.

Treze anos de análises citogenéticas no Laboratório de Genética Médicado Hospital Universitário Professor Edgard Santos / Thirteen years of cytogenetic analysis at Laboratory of Medical Genetics of University Hospital Professor Edgard Santos

Introdução: as anormalidades cromossômicas constituem uma das maiores categorias de doenças genéticas e são causa significativa de deficiência intelectual, déficit pôndero-estatural, malformações congênitas e dismorfismos faciais. Este trabalho é um estudo retrospectivo longitudinal de análises cromossômicas realizadas no Laboratório de Genética Médica do Complexo Hospitalar Universitário Professor Edgard Santos (UFBA). Objetivos: identificar os motivos de encaminhamento, os resultados citogenéticos do público atendido entre 2005 e 2017, e a taxa de diagnóstico etiológico obtido pelo cariótipo e pela FISH. Metodologia: foram encaminhados 3.863 pacientes, com suspeita clínica de cromossomopatias. As análises genéticas foram realizadas a partir de cultura de linfócitos e posterior bandamento G e/ou Hibridação in situ por fluorescência (FISH). Os dados dos pacientes foram obtidos através das fichas de encaminhamento e das análises cromossômicas. Resultados: o principal motivo de encaminhamento foi dismorfologias e/ou deficiência intelectual seguida de suspeita da Síndrome de Down e Síndrome de Turner, confirmadas em 14% e 4% da amostra, respectivamente. Foi possível concluir o diagnóstico etiológico em 904 casos (24,5%). Discussão: a confirmação etiológica das anomalias congênitas é extremamente importante para o prognóstico do paciente, sendo necessário investimentos em testes citomoleculares, como a FISH e o microarray, visando ampliar a taxa de diagnóstico. Conclusão: o cariótipo Banda G concluiu o diagnóstico clínico em 23.3% dos pacientes, compatível com a frequência das síndromes mais comumente diagnosticadas por esse teste, enquanto que a FISH conseguiu adicionar diagnóstico etiológico em mais 1,2% dos casos, esses envolvidos com as síndromes de microdeleções.

Introduction: chromosomal abnormalities constitute one of the major categories of genetic diseases and are a significant cause of intellectual deficiency, weight deficit, congenital malformations and facial dysmorphisms. This work is a retrospective longitudinal study of chromosomal analysis performed at the Laboratory of Medical Genetics of the University Hospital Complex Professor Edgard Santos (UFBA). Objectives: to identify the referral motives, the cytogenetic results of the public served between 2005 and 2017, and the etiological diagnosis rate obtained by the karyotype and FISH. Methodology: 3,863 patients were referred, with clinical suspicion of chromosomal disorders. Genetic analyzes were performed from lymphocyte culture and subsequent G banding and / or fluorescence in situ hybridization (FISH). Patient data were obtained through referral forms and chromosome analysis. Results: the main reason for referral was dysmorphologies and / or intellectual disability followed by Down Syndrome and Turner Syndrome, confirmed in 14% and 4% of the sample, respectively. It was possible to conclude the etiological diagnosis in 904 cases (24.5%). Discussion: the etiologic confirmation of congenital anomalies is extremely important for the prognosis of the patient, and investments in cyto-molecular tests, such as FISH and microarray, are necessary to increase the diagnostic rate. Conclusion: the G-band karyotype concluded the clinical diagnosis in 23.3% of the patients, compatible with the frequency of syndromes most commonly diagnosed by this test, while FISH was able to add an etiological diagnosis in another 1.2% of cases, those involved with microdeletion syndromes

Gonadoblastoma bilateral em paciente com mosaicismo de síndrome de Turner: relato de caso e revisão de literatura / Bilateral gonadoblastoma in patient with Turner syndrome mosaicism: case report and literature review

A síndrome de Turner decorre de uma anomalia dos cromossomos sexuais, afetando cerca de 1:2.500 nascidos vivos. A síndrome caracteriza-se principalmente por atraso do e denvolvimento dos caracteres sexuais e/ou amenorreia e baixa estatura. Entretanto, uma diversidade de estigmas também pode estar presente. O diagnóstico pode ser realizado com base nos estigmas da síndrome associados a um quadro de hipogonadismo hipergonadotrófico e confirmado por meio do cariótipo ­ sendo esse classicamente 45,X (monossomia do cromossomo X). Entretanto, os mosaicos (45,X/46,XY ou 45,X/46,XX) podem representar 34% a 75% dos casos, dependendo do método de análise utilizado. Trata-se de uma condição rara correspondendo a 5% das disgenesia gonadais e apresenta um amplo espectro fenotípico. A importância da identificação de mosaicos, especialmente a presença do cromossomo Y, reside no manejo adequado da gônada disgenética para a prevenção da ocorrência de tumor gonadal, principalmente o gonadoblastoma, com considerável potencial maligno.(AU)

Turner's syndrome results from a sex chromosomes anomaly, affecting about 1:2,500 live births. The syndrome is characterized mainly by delayed development of sexual characteristics and/or amenorrhea and short stature. However, a variety of stigmas may also be presented. The diagnosis can be made based on the stigmas of the syndrome associated with a hypergonadotrophic hypogonadism and confirmed by the karyotype ­ this being classically 45, X (monosomy of the X chromosome). However, mosaics (45,X/46,XY or 45,X/46, XX) may represent 34% to 75% of cases depending on the method of analysis used. It is a rare condition, corresponding to 5% of gonadal dysgenesis and presents a broad phenotypic spectrum. The importance of mosaic identification, especially the presence of the Y chromosome, lies in the proper management of the dysgenetic gonad for the prevention of the occurrence of gonadal tumor, especially gonadoblastoma, with considerable malignant potential.(AU)

Gestación en paciente con insuficiencia ovárica primaria secundaria a mosaicismo de Síndrome de Turner / Pregnancy in a patient with primary ovarian insufficiency owing to a mosaicism of Turner Syndrome

RESUMEN La Insuficiencia Ovárica Primaria se define por una amenorrea secundaria de al menos cuatro meses de duración, deficiencia de esteroides sexuales (estradiol) y altas concentraciones séricas de hormona folículoestimulante (FSH) con al menos un mes de diferencia entre estas determinaciones, en mujeres menores de 40 años. Es una causa insidiosa de infertilidad pero en algunas ocasiones es transitoria y permite una gestación espontánea. El Síndrome de Turner es un trastorno genético caracterizado por la pérdida o anomalías estructurales de un cromosoma X y que afecta a 1 de cada 2.500 mujeres nacidas vivas. Las manifestaciones clínicas varían entre pacientes, pero generalmente se relaciona con talla baja, coartación aórtica, disgenesia gonadal e insuficiencia ovárica primaria. Las técnicas de reproducción asistida como la criopreservación de ovocitos y de tejido ovárico, la maduración in vitro o la donación de ovocitos ofrecen opciones reproductivas en aquellos casos en los que no se produzca un embarazo espontáneo.

ABSTRACT Primary Ovarian Insufficiency is considered a secondary amenorrhea of at least four months duration, sex steroid deficiency (estradiol) and high serum concentrations of follicle stimulating hormone (FSH) with at least one month difference between these determinations, in women under 40 years. It is an insidious cause of infertility but sometimes it is transient and allows a spontaneous pregnancy. Turner syndrome is a genetic disorder characterized by the loss or structural abnormalities of an X chromosome that affects 1 in 2,500 women born alive. Clinical manifestations vary among patients, but it is usually associated with short stature, aortic coarctation, gonadal dysgenesis, and primary ovarian failure. Assisted reproduction techniques such as cryopreservation of oocytes and ovarian tissue, in vitro maturation or oocyte donation offer reproductive options in those cases in which there is no spontaneous pregnancy.

Velocidad de crecimiento en pacientes con síndrome de Turner que recibieron hormona recombinante de crecimiento / Growth rate in patients with Turner syndrome who received recombinant growth hormone

El síndrome de Turner (ST) afecta a uno de cada 2000-2500 recién nacidos vivos y tiene una prevalencia de 50 por cada 100 000 mujeres. Las manifestaciones clínicas son variables, dependiendo del tipo de alteración cromosómica y de la edad de presentación. Una de las características más prevalentes y sobresalientes del síndrome es su estatura extremadamente baja. La hormona de crecimiento humana recombinante (rh-GH) se ha usado para aumentar el crecimiento y la estatura final en las niñas que tienen el síndrome de Turner. Para valorar los efectos de la hormona de crecimiento recombinante en las niñas y adolescentes con ST, hemos tomado en cuenta el efecto de la hGH, considerando la velocidad en la talla de crecimiento como un punto importante del estudio observacional retrospectivo. Resultados principales: El uso de rh-GH tiene una relación estadísticamente significativa (p0.049 <0.05), que se asocia con un factor de influencia positiva en relación con la velocidad de crecimiento, como variable principal. Al comparar a las pacientes que recibieron la hormona de crecimiento con las que no la recibieron, en las primeras existe la tendencia a acercarse a la curva del percentil 10 en comparación con la de aquellas que no recibieron la rh-GH, que estuvieron más lejos de la curva.

Turner syndrome (TS) affects about one in 1500 to 2500 live-born females. One of the most prevalent and salient features of the syndrome is extremely short stature. Recombinant human growth hormone (rh-GH) has been used to increase growth and final height in girls who have Turner syndrome. To assess the effects of recombinant growth hormone in children and adolescents with TS we have evaluated the effect of HGH considering growth rate as an important point through a retrospective observational study. Main results: The use of rh-GH has a statistically significant relationship (p0.049 <0.05) that is associated with an influencing factor in favor of the use of rh-GH in relation to the variable growth rate. When comparing the patients who received growth hormone with those who did not receive, there is the tendency to arrive closer to the 10th percentile curve compared to the curve of the patients who did not receive rh-GH, which is further away.

Síndrome de Turner: nuestra experiencia en la creación del Registro Institucional y de la Unidad Interdisciplinaria en el Hospital Italiano de Buenos Aires: un primer paso para el mejor seguimiento / Turner syndrome: our experience in the creation of the Registry Institutional and Interdisciplinary Unit at the Italian Hospital of Buenos Aires: a first step to the best follow-up

El síndrome de Turner (ST) resulta de la ausencia completa o parcial del segundo cromosoma sexual en fenotipos femeninos. Tiene una incidencia de 1:2000- 2500 nacidas vivas. Recién en la última década se ha puesto atención a la salud de las adultas con ST. La mortalidad es 3 veces superior respecto de la población general debido al riesgo de disección aórtica por anomalías cardiovasculares estructurales y aterosclerosis vinculada a hipertensión arterial, diabetes, dislipidemia y obesidad. También presentan elevada prevalencia de enfermedades autoinmunitarias. Objetivo: evaluar la calidad del seguimiento clínico de pacientes adultas con ST, comparando los controles de salud preconformación y posconformación del Registro y de la Unidad Interdisciplinaria. En el año 2017 fuimos convocados para integrar el Programa de Enfermedades Raras del Hospital Italiano de Buenos Aires. A partir de la creación del Registro Institucional y del equipo multidisciplinario obtuvimos mejoría significativa en los controles por las especialidades de cardiología, endocrinología y otorrinolaringología, en los controles bioquímicos del metabolismo lipídico, hidrocarbonado, hepatograma, TSH y anticuerpos para celiaquía e imágenes cardiovasculares y densitometría ósea. En conclusión, el seguimiento sistematizado e institucional, mediante el Registro y la creación de la Unidad Interdisciplinaria de Síndrome de Turner, permitió encontrar las falencias del sistema de atención y optimizar el seguimiento de esta población. (AU)

Turner syndrome (TS) results from the complete or partial absence of the second sex chromosome in female phenotypes. It has an incidence of 1: 2000-2500 girls born alive. Only in the last decade has been paid attention to the health of adults women with TS. Mortality is 3 times higher than in the general population due to the risk of aortic dissection cause to structural cardiovascular anomalies and atherosclerosis related to hypertension, diabetes, dyslipidemia and obesity. They also have a high prevalence of autoimmune diseases. Until nowadays in Argentina do not exist a national registry of this disease that complies with the international follow-up recommendations for these patients. We proposed to develop the institutional register at 2014 and a multidisciplinary team was created to care and follow up girls and women with TS during 2015. It was indexed to Italian Hospital of Buenos Aires' Rare Diseases Program since 2017. After the creation of the institutional registry and the multidisciplinary team we obtained a significant improvement in cardiology, endocrinology and otorhinolaryngology schedule visits, in lipids and hydrocarbon metabolism, liver, thyroid and celiac diseases biochemical controls and in the performance of cardiovascular MNR and bone densitometry. In conclusion, the systematized and institutional follow-up, through the registry and the creation of the Interdisciplinary Unit of Turner Syndrome, allowed us to find the flaws of the care system and to optimize the follow up of this population. (AU)

Actualización en el manejo del síndrome de Turner en niñas y adolescentes: revisión de la literatura e Incorporación de recomendaciones de las nuevas guías clínicas / Update on the management of Turner syndrome in girls and adolescents: review of the literature and incorporation of recommendations of the new clinical guidelines

Turner syndrome (TS) is a common disorder (1/2.000 women) that affects multiple organs at different stages of life and needs a multidisciplinary approach. It can be present in women of all ethnicities and is caused by a monosomy of the X chromosome that causes a haploinsufficiency of certain genes. Its main features consist of specific but variables physical characteristics, congenital heart defects, renal anomalies, middle and inner ear diseases, skeletal alterations, and from the endocrinological point of view, short stature and ovarian insufficiency. Given the comorbidities associated with TS, it has been estimated that they have an increased risk of mortality (up to 3 times more) and a reduction in life expectancy of approximately 13 years. Depending on the genotype, the abnormalities can become very subtle, in these cases the diagnosis is late, when the adolescent consults, for example, for primary amenorrhea or an adult woman for infertility. Once the diagnosis is confirmed by a karyotype, these patients must remain in pediatric control in a continuous way to investigate associated pathologies in a timely manner, with periodic evaluations by specialists, such as otolaryngologists, cardiologists, neurologists and endocrinologists, among others. Numerous advances in the care of these patients gave rise to new guidelines published in 2017. In this article we will comment on the main conditions associated with TS and its specific etiology, we will mention what is relevant regarding the genotype-phenotype relationship in this syndrome and we will discuss the fundamental aspects of the control of the TS patient, with emphasis on the treatment of short stature and ovarian insufficiency, as well as the cardiovascular aspects and those related to fertility.

El Síndrome de Turner (ST) es una patología frecuente (1/2.000 mujeres) que afecta múltiples órganos en distintas etapas de la vida y necesita un enfoque multidisciplinario. Se produce por una monosomía del cromosoma X que provoca una haploinsuficiencia de determinados genes. Sus características principales consisten en un fenotipo característico pero variable, con presencia de cardiopatías congénitas, anomalías renales, enfermedades del oído medio e interno, alteraciones esqueléticas, y del punto de vista endocrinológico, talla baja e insuficiencia ovárica. Dadas las comorbilidades asociadas al ST, principalmente cardiovasculares (CV), presentan mayor mortalidad con respecto a la población general (hasta 3 veces más). Dependiendo del genotipo, las anomalías pueden llegar a ser muy sutiles, realizándose en estos casos el diagnóstico en forma tardía, cuando la adolescente consulte, por ejemplo, por amenorrea primaria o una mujer adulta por infertilidad. Una vez confirmado el diagnóstico mediante un cariotipo, estas pacientes deben permanecer en control endocrinológico pediátrico en forma continua hasta la transición hacia adultos, con el fin de pesquisar patologías asociadas en forma oportuna. Por ello requieren evaluaciones periódicas por especialistas, tales como otorrinolaringólogos, cardiólogos, neuropsiquiatras, entre otros. Numerosos avances en el cuidado de estas pacientes, dieron origen a nuevas guías publicadas el 2017. En este artículo comentaremos sobre las principales condiciones asociadas al ST y su etiología específica, mencionaremos lo relevante respecto a la relación genotipo-fenotipo en este síndrome y discutiremos los aspectos fundamentales del control de la paciente con ST, haciendo énfasis en el tratamiento de la talla baja y la insuficiencia ovárica, así como los aspectos CV y los relacionados a fertilidad.

Turner syndrome and spontaneous pregnancy / Síndrome de Turner e gravidez espontânea

ABSTRACT The objective of this study is to describe patients with Turner syndrome (TS) who had spontaneous pregnancy and, when possible, to present the frequency of this outcome in this genetic condition. This is a literature review conducted in MedLine/PubMed, using the following English descriptors: Turner syndrome and spontaneous pregnancy. The following filters have been activated: articles with a publication date from the last 10 years that present the descriptors in the title/abstract. Twenty-nine articles were identified using the electronic search. After applying the inclusion and exclusion criteria, the number of articles selected was seven. However, two more articles were included after consulting the reference lists of these seven studies, totaling nine scientific articles. The frequency of spontaneous pregnancy ranged from 1.26% to 5.6%. Sixty-two TS patients who spontaneously became pregnant and 153 pregnancies were reported. There was a predominance of karyotype 45,X/46,XX (42 patients). Three patients were diagnosed with TS in adulthood and two of them after pregnancy. The minimum age at pregnancy was 21 years and the maximum 32. In the gestational outcome, an expressive number of children born, and abortions were observed, the latter with values of 54.9% and 34.6%. The present study described patients with TS and spontaneous pregnancy with mosaic (more frequent) and pure karyotype. It is believed that this value may be underestimated, since few studies have investigated primarily spontaneous pregnancy in this genetic condition, and many TS patients may not have been diagnosed because of the wide phenotypic variability associated with this chromosomal abnormality.

RESUMO O objetivo deste estudo é descrever pacientes com síndrome de Turner (ST) que tiveram gravidez espontânea e, quando possível, apresentar a frequência desse desfecho nessa condição genética. Trata-se de uma revisão bibliográfica realizada no MedLine/ PubMed, utilizando os descritores, em inglês: Turner syndrome and spontaneous pregnancy. Os seguintes filtros foram ativados: artigos com data de publicação dos últimos 10 anos que apresentassem os descritores no título/abstract. Foram identificados na busca eletrônica, 29 artigos. Após aplicação dos critérios de inclusão e exclusão, o número de artigos selecionados foi sete. No entanto, mais dois artigos foram incluídos após a consulta das referências bibliográficas dos sete estudos, totalizando nove artigos científicos. A frequência de gravidez espontânea variou de 1,26% a 5,6%. Foram relatadas 62 pacientes com ST que engravidaram espontaneamente e 153 gravidezes. Houve predomínio do cariótipo 45,X/46,XX (42 pacientes). Três pacientes foram diagnosticadas com ST na idade adulta e duas delas após a gestação. A idade mínima na gestação foi 21 anos e a máxima, 32. No desfecho gestacional, foi observado um número expressivo de crianças nascidas e abortos, este último com valores de 54,9% e 34,6%. O presente estudo descreveu pacientes com ST e gravidez espontânea com cariótipo mosaico - mais frequente -, e puro. Acredita-se que esse valor possa estar subestimado, uma vez que há poucos estudos que investigaram primariamente a gravidez espontânea nessa condição genética, e muitas pacientes com ST podem não ter sido diagnosticadas devido à ampla variabilidade fenotípica associada a essa anomalia cromossômica.

Disgenesia gonadal mixta: un caso de síndrome de Turner en mosaicismo 45,X/47,XYY / Mixed gonadal dysgenesis, a case of Turner syndrome in mosaicism 45,X/47,XYY

Resumen ANTECEDENTES: Alrededor de 45% de los pacientes con síndrome de Turner tienen línea monosómica 45,X. La existencia del cromosoma Y en mosaicos corresponde a 2-5% de los casos. La severidad del fenotipo se relaciona con el porcentaje y distribución de las células normales, inclusive se estima que 90% de las presentaciones en mosaico podrían no llegar a tener diagnóstico. OBJETIVO: Reportar un caso atípico de una adulta joven con síndrome de Turner en mosaico 45,X/47,XYY. CASO CLÍNICO: Paciente de 27 años de edad, que acudió a consulta al Hospital Universitario de Santander, Colombia, debido al antecedente de amenorrea primaria, apariencia femenina normal, talla y peso promedio para la población colombiana, mamas Tanner 3 y genitales externos Tanner 5. La resonancia magnética nuclear reportó: hipoplasia uterina y ovarios atróficos. El cariotipo de alta resolución diagnóstica fue de síndrome Turner en mosaico 45,X[60%]/47,XYY [40%]. CONCLUSIÓN: En mujeres con amenorrea primaria y talla baja debe sospecharse el síndrome de Turner. En virtud de la variedad fenotípica, las condiciones en mosaico pueden retrasar el diagnóstico hasta la adultez. Incluso 90% de los mosaicos pueden no diagnosticarse.

Abstract BACKGROUND: Approximately 45% of patients with Turner syndrome have monosomic line 45, X. The existence of the Y chromosome in mosaics corresponds to 2 to 5% of the cases, the severity of the phenotype is related to the percentage and distribution of normal cells, it is even estimated that 90% of mosaic presentations may not have diagnosis. OBJECTIVE: To present an atypical case of a young adult with Turner syndrome in mosaic 45,X / 47,XYY CLINICAL CASE: A 27-year-old woman visits the University Hospital of Santander for a history of primary amenorrhea, normal female appearance, average height and weight for Colombian population, Tanner 3 breasts and external genitalia Tanner 5. Magnetic resonance imaging reports uterine hypoplasia, ovaries and discards a pituitary tumor. High-resolution karyotype diagnoses Turner mosaic syndrome 45,X [60%] / 47,XYY [40%]. CONCLUSION: Turner's syndrome should be suspected in women with primary amenorrhea and low stature, however, mosaic conditions may delay their diagnosis until adulthood due to their phenotypic variety, up to 90% of the mosaics can reach no have diagnosis.

Síndrome de Turner mixoploide: aberración estructural del cromosoma Y y su correlación con los dermatoglifos / Mixoploid turner Syndrome with a Y-chromosome structural aberration and its correlation with dermatoglyphs

Resumen ANTECEDENTES El análisis citogenético del síndrome de Turner suele ser una línea monosómica X. Son raros los casos reportados con más de una línea celular y aún menos con aberraciones estructurales del cromosoma Y. No es común que se incluyan análisis dermatoglíficos. CASO CLÍNICO Paciente de 8 años de edad, que al examen físico no evidenció ninguna característica fenotípica propia del síndrome de Turner, excepto talla baja, 1.28 cm (por debajo del percentil 3). La laparoscopia exploradora mostró al útero hipoplásico, trompas rudimentarias, cintillas ováricas hipoplásicas delgadas y anillos inguinales normales sin evidencia de hernias, no se detectó tejido testicular. El resultado de la citogenética convencional en sangre periférica fue de: 46,XY; bandeo "C" 46,XY; FISH 45,X[230]/46,XY[117]/46,X,dic.Y[64]. La dactiloscopia con aumento de verticilos coincidió con el aumento del número de crestas mayor al reportado como normal (127 ± 0.8), en quiroscopia ángulo ATD (92°), número de crestas a-b (86) y el porcentaje de t (24.3%). CONCLUSIÓN Se discute uno de los pocos casos reportados en la bibliografía de síndrome de Turner con tres líneas celulares diferentes, resultantes de un evento no disfuncional poscigótico y estructural cromosómico, así como el análisis de la dactiloscopia y quiroscopia y los aspectos genéticos, medio ambientales y bioquímicos de los dermatoglifos, coincidentes con los del síndrome clásico.

Abstract BACKGROUND Usually, cytogenetic analysis of Turner´s syndrome is presented as a single monosomic X cell line. Are rare the reported cases in which there are multiple cell lines and even less frequent descriptions of structural chromosomal aberrations of the Y-chromosome. Additionally, the cases reported to date do not include finger/palm process analysis. We present an infrequent case of a Turner syndrome with three different cell lines including a structural aberration of the Y-chromosome and to correlate with finger process and palm process analysis. CLINICAL CASE A 8-year-old female patient who did not show any Turnerian syndrome phenotypic characteristics except low height, 1.28 cm (under 3th percentile). Exploratory laparoscopy shows hypoplastic uterus, with rudimentary tubes, thin hypoplastic ovaries and normal inguinal rings without evidence of hernias. No testicular tissue was detected. Conventional cytogenetic findings in peripheral blood are: 46, XY; "C" banding 46, XY; FISH 45, X [230] / 46, XY [117] /46,X,dic.Y [64]. Finger process with increase of whorls was observed, coinciding with the increase in the number of ridges higher than that reported as normal (127 ± 0.8) and in the palm process the atd angle (92º), number of a-b crests (86) and the percentage of t (24.3%). CONCLUSION We discuss one of the few cases reported in the scientific literature of Turner syndrome with three different cell lines results from a non-dysfunctional post-zygotic etiology and its chromosomic structure; as well as the results of genetic, environmental and biochemical aspects of the finger/palm process and their correlation with the classical syndrome.

45, X/46, XY variante de síndrome de turner reporte de un caso / 45,X/46,XY. avariation of turner syndrome. a case report

El síndrome de Turner es una anomalía cromosómica descrita por primera vez por el Dr. Henry Turner en 1938 que se manifiesta principalmente por talla baja, cuello ancho, pterigyumcolli, cubitus valgo e infantilismo sexual. Tiene una prevalencia de 1 en 1800 a 5000 recién nacidos vivos femeninos y se caracteriza por la ausencia total o parcial del segundo cromosoma X. Con las técnicas citogenéticas una gran variedad de presentaciones han sido reconocidas, siendo la más común la monosomía del cromosoma X (constitución cromosómica: 45,X) y los menos frecuentes los mosaicismos, entre los que se incluyen cromosomas marcadores que corresponderían a fragmentos o la totalidad de un cromosoma Y; la presencia de este cromosoma podría conferirle al paciente características fenotípicas masculinas. Se reporta el caso de una niña de 14 años de edad con fenotipo de síndrome de Turner que presentó una constitución cromosómica en mosaico 45,X/46,XY. Madre y padre de 32 años, no consanguíneos, la niña fue traída a la consulta por ausencia de vello axilar y pubiano, y ausencia de desarrollo mamario En el nacimiento la paciente presentó genitales ambiguos, labios abiertos, en bolsa derecha el testículo se presentó atrofiado y el izquierdo en pelvis, ambos fueron extirpados a los 3 y 6 meses de vida respectivamente. Se realiza una revisión de la literatura y se propone el asesoramiento genético adecuado a lo hallado en el cariotipo.

Turner syndrome (TS) is a chromosomal disorder discovered by Dr. Henry Turner in1938, is manifested clinically mainly by short stature, broad neck, pterigyumcolli, cubitusvalgus and sexual infantilism. It has a prevalence of 1 in 1800-5000 female live births andis characterized by the total or partial absence of the second X chromosome. A great varietyof presentations have been recognized due to cytogenetic techniques, the most commonbeing the monosomy of the X chromosome (chromosomal constitution: 45,X) and the lessfrequent mosaicism, including marker chromosomes that correspond to fragments or thewhole Y chromosome. The presence of this chromosome could confer male phenotypiccharacteristics to the patients. We report the case of a 14-year-old girl with a phenotypesimilar to Turner syndrome who presented a mosaic chromosomal constitution 45 X/46,XY.Both parents were 32-year old, nonconsanguineous; the child was brought to consultationfor absence of axillary and pubic hair and absence of breast development. At the birth thepatient presented ambiguous genitalia, open labia and atrophied right testicle while the leftremained in the pelvis, both were extirpated at 3 and 6 months of life respectively. A reviewof the literature was carried out and we proposed genetic counseling appropriate to thefindings in the karyotype.