Anthropometry and physical appearance can be associated with quality of life in Brazilian women with Turner syndrome

ABSTRACT Objective: This study aimed to analyze if anthropometric factors and physical appearance are associated to QoL in Turner syndrome (TS). Materials and methods: Observational, analytical, and cross-sectional study. The SF-36 was applied along with an additional questionnaire regarding specific characteristics of TS. Results: There were no differences in quality of life (QoL) in TS women regarding median height and appropriate height according to parental target height, however, participants satisfied and who did not desire to change their height had better scores in the mental health and role emotional domains than those not satisfied and desired to change it. When comparing participants who were or were not bothered by physical appearance, the results showed that those not bothered by physical appearance had a better score in the vitality and social function domains. Considering patients who did or did not desire to change physical appearance, those who did not want to change their physical appearance had higher scores in the mental component and in the social function and mental health domains of the SF-36. Conclusion: This study indicated that anthropometric factors and physical appearance may possibly be associated to QoL in TS, and also emphasizes the need to develop and validate an official questionnaire regarding specific TS characteristics in order to assess in more detail how specific characteristics of TS interfere with their QoL.

A case of a 45,X,46,X+mar male phenotype mosaic Turner syndrome with a mixed gonadal germ cell tumor / Philippine Journal of Obstetrics and Gynecology

@#Turner syndrome is a congenital condition affecting 1 in every 2500 female live births. This condition is characterized by complete or partial loss of the X chromosome. They commonly present with normal female external and internal genitalia and may develop hypogonadism and streak ovaries later in life. We describe an unusual presentation of a case of Turner syndrome – a 31-year-old Filipino with male phenotype mosaic Turner syndrome, with 46,X,+mar[46]/45,X[4] chromosome, presenting with ambiguous genitalia and a pelvoabdominal mass. The patient underwent exploratory laparotomy, peritoneal fluid cytology, adhesiolysis, tumor debulking (gonadectomy) appendectomy, omentectomy, identification and inspection of bilateral ureters and bladder, gonioscopy and biopsy of the urogenital cavity (bladder vs. vagina). Histopathology revealed a mixed gonadal tumor, consisting of 70% yolk sac tumor, and 30% dysgerminoma. The patient eventually succumbed to postoperative complications. Postmortem fluorescence-in situ hybridization revealed a 46,X,+mar[46]/45,X,[4].ish der (Y) (DYZ3+), a marker of chromosome Y origin, consistent with a mosaic type Turner syndrome, associated with increased risk for gonadal malignancy.

Indications for prenatal diagnosis and pregnancy outcomes of Turner syndrome with different karyotypes in 205 cases / 中华围产医学杂志

Objective:To investigate the indications for prenatal diagnosis and pregnancy outcomes of fetal Turner syndrome (TS) with different karyotypes.Methods:Clinical data of TS cases diagnosed by fetal karyotyping in the Prenatal Diagnostic Center of Guangzhou Women and Children′s Medical Center from January 1, 2010, to June 30, 2021, were analyzed retrospectively. According to the karyotyping results, these cases were divided into two groups: monosomy X (45,X) and non-monosomy X groups (including karyotypes of mosaic monosomy X, isochromosome X, X deletion, X rearrangement, pseudodicentric X, and mosaicism with Y or Y deletion). Chi-square test was used to compare the detection rate, indications for prenatal diagnosis, and pregnancy outcomes of the two groups, and the Bonferroni test was conducted for further pairwise comparisons between the subgroups. The Chi-square test (or Fisher's exact test) was used to compare the abnormal ultrasound signs. Mann-Whitney U test was used to compare the nuchal translucency (NT) thickness of the two groups. Results:(1) Invasive prenatal diagnosis was performed on 27 981 pregnancies, and 205 (0.73%) of them were diagnosed with TS, including 135 cases of monosomy X and 70 cases of non-monosomy X (44 with numerical sex chromosome abnormalities, and 26 with structural sex chromosome abnormalities). (2) Out of the 205 pregnancies, 164 (80.0%) had one indication for prenatal diagnosis, and 41 (20.0%) had multiple indications. The detection rate of fetal ultrasonographic abnormalities [85.2% (115/135)] in monosomy X cases was significantly higher than that of three other indications [positive serological screening for Down's syndrome: 67.3% (35/52); positive non-invasive prenatal testing (NIPT) for sex chromosome abnormality: 60.0% (15/25); and other indications (advanced maternal age, adverse pregnancy history and thalassemia genes carried by both parents): 5.2% (7/135); all P<0.05], and also higher than the figure in non-monosomy X cases [25.7% (18/70), χ 2=71.55, P<0.001]. In non-monosomy X cases, the detection rates of TS among cases with high-risk results from serological screening for Down's syndrome and NIPT for sex chromosome abnormality [54.7% (29/53) and 68.3% (28/41)] were higher than those of the other two indications [fetal ultrasonographic abnormalities: 25.7% (18/70), other indications: 14.3% (10/70); all P<0.05]. (3) Of the 133 pregnancies with fetal ultrasonographic abnormalities as the indication, 65 (48.9%) had one abnormal ultrasound sign, and 68 (51.1%) had multiple signs. Among the 95 cases with ultrasound abnormalities in the first trimester and 38 cases in the second or third trimester, the incidence of cystic hygroma and hydrops was significantly higher in monosomy X cases than in non-monosomy X cases [in the first trimester: 71.8% (61/85) vs 1/10, 34.1% (29/85) vs 0/10; in the second or third trimester: 73.3% (22/30) vs 0/8, 50.0% (15/30) vs 0/8; Fisher's exact test, all P<0.05]. NT thickness in monosomy X cases was greater than that of non-monosomy X cases [7.5 mm (1.0-17.4 mm) vs 1.7 mm (0.8-9.5 mm), Z=－5.25, P<0.001]. (4) Among the 72 pregnancies with indications other than ultrasound abnormalities, 68 underwent Down's syndrome screening and 61 underwent NIPT. The detection rates among the cases with positive results in Down's syndrome screening, NIPT for a sex chromosome abnormality, and other indications (advanced maternal age, adverse pregnancy history, and thalassemia genes carried by both parents) were 54.4% (37/68), 59.0% (36/61) and 22.2% (16/72), respectively ( χ 2=22.40, P<0.001). The detection rates of the cases with high-risk results from Down's syndrome screening and NIPT for sex chromosome abnormality were higher than that of the cases with other indications ( χ 2=18.77 and 15.40, both P<0.001). Of the 72 pregnancies, 19 (26.4%) were monosomy X and 53 (73.6%) were non-monosomy X, including 42 (58.3%) with chromosomal mosaicism. (5) Among the 205 cases of TS, 185 were successfully followed up (123 were monosomy X and 62 were non-monosomy X). There was one live birth in monosomy X cases (0.8%, 1/123) and 17 in non-monosomy X cases (27.4%, 17/62), and the difference was statistically significant ( χ2=33.22, P<0.001). Sixty-three TS cases with normal ultrasound findings were followed up (18 were monosomy X and 45 were non-monosomy X). In these cases, all 18 pregnancies with monosomy X and 32 (71.1%, 32/45) with non-monosomy X were terminated and the other 13 (28.9%, 13/45) cases of non-monosomy X were delivered. Of the 18 live births, one (non-monosomy X) was delivered at 36 weeks of gestation and the rest were born at term. Eleven cases of them were followed up. The height of one child with monosomy X was lower than the average height of children of the same age and sex by more than 2 standard deviations (－2 SD). The height of 10 children with non-monosomy X were between－1 SD and +3 SD among the children of the same age and gender. The mental and motor development were good in the 11 cases, and no other structural abnormalities were observed. The remaining seven cases refused to be followed up. Conclusions:Ultrasonographic abnormalities are the main indications of fetal TS with monosomy X, while positive Down's syndrome screening and positive NIPT for sex chromosome abnormality are indicators of non-monosomy X. The termination rate for pregnancies with monosomy X is higher than that for non-monosomy X.

Cognitive phenotype and biological mechanisms of Turner syndrome / 中华行为医学与脑科学杂志

Turner syndrome is a disease resulted from the complete or partial loss of an X chromosome, and the typical karyotype is 45, X. Patients with Turner syndrome are susceptible to many medical problems, including short stature, congenital agenesis of ovaries and cognitive function impairment. More specifically, recent studies reported that these patients’ brain structure and brain function are different with normal people, especially in the occipital area, the amygdala, the prefrontal cortex and temporal lobe.And they also show a particular pattern of cognitive impairment(including visuospatial ability, abstract reasoning and excutive function) and social impairment and an increased risk of specific neurodevelopmental disorders. Additionally, haploinsufficiency of escape genes, gonadal steroid deficiency and failure to express parentally imprinted genes may contribute to the differences in brain structure and brain function between these patients and normal people, causing cognitive and social impairment in patients with Turner syndrome. This study reviewed the alterations and biological mechanisms in brain structure, brain function and cognitive profile in patients with Turner syndrome.

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.

Mosaic Variant of Turner Syndrome

Turner syndrome is the most common chromosomal abnormality leading to gonadal failure and primary amenorrhea. While half of the cases have monosomy of chromosome X, the remaining exhibit mosaicism resulting in wide variation of phenotypic characteristics and clinical manifestations. We present a case of a 24-year-old female with mosaic variant Turner syndrome. The diagnosis was confirmed by karyotype analysis and laparoscopy.

CLINICAL AND CYTOGENETICS ANALYSIS OF WOMEN THAT WERE SUSPECTED FOR TURNER SYNDROME IDENTIFIED AS 19.8% CHROMOSOMALABNORMALITY IN NORTH INDIAN POPULATION

Purpose: The objective of present study was to know the contribution of different types chromosomal anomalies in manifestation of Turner syndrome. Turner syndrome is a chromosomal disorder mainly due to growth retardation and primary amenorrhoea. Cytogenetic analysis of cases referred for Turner syndrome is necessary for an early diagnosis which helps in genetic counselling to manage it in a better way. Total 237 cases suspected for Methods: Turner syndrome, were included in this study for duration of 7 years (2007-2014). We implemented the standard protocol for peripheral whole blood lymphocyte culture, chromosome preparation followed by G-banding. Chromosomes were analysed according to the guidelines of International System for Human Cytogenetic Nomenclature (2005). After analysing 237 Results: registered cases, chromosomal anomalies were seen only in 47 cases (19.8%). Careful clinical examination of patients with abnormal karyotype (n=47) revealed four major phenotypes i.e. growth retardation (n=19, 40.4%), primary amenorrhoea (n=19, 40.4%), primary amenorrhoea with growth retardation (n=6, 12.8%), and oligoamenorrhoea (n=3, 6.4%). Seven different types of chromosomal abnormalities were observed viz. Monosomy X (n=22, 46.8%), triple X syndrome (n=2, 4.2%), turner mosaic (n=3, 6.4%), ring chromosome (n=5, 10.6%), structural abnormalities with X chromosome (n=6, 12.8%), mosaic structural X abnormality (n=1, 2.1%), XY gonadal dysgenesis (n=8, 17%). This study revealed the frequency of Conclusion: most common clinical phenotype and different chromosomal abnormalities in patients suspected for turner syndrome. We observed growth retardation and primary amenorrhoea as most common clinical feature and monosomy of X chromosome as most frequent chromosomal abnormality in this cohort of study.

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.

Turner syndrome with Madelung deformity, complex brachydactyly and ankylosing spondylitis: A case report / 中华骨科杂志

Turner syndrome (TS) complicated with Madelung deformity and complex brachydactyly are rare clinically, and it is even rarer to combine with ankylosing spondylitis (AS). This article reports a case of a 36 year-old female patient who was admitted to the hospital with "ankylosing spondylitis" due to repeated back, hip and knee pain for 11 years and aggravated for 1 month. After admission, the karyotype showed "46, X, i (Xq)" due to short stature, dysplasia of secondary sexual characteristics, limb deformity etc, thus confirming TS. Further examination revealed bilateral Madelung deformity and complex brachydactyly characterized by shortening of the fourth metacarpal, multiple missing and shortened middle phalanxes. By reviewing the relevant literature, we believe that autoimmune diseases such as AS should be excluded in TS patients. TS aggravates the inflammatory response of AS, but the combination of TS and AS is more likely to be an accidental event. Patients with Madelung deformity should be careful to exclude TS. Madelung deformity and shortening of the fourth metacarpal are mainly associated with haploinsufficiency of SHOX gene. Brachydactyly characterized by multiple loss and shortening of the middle phalanx may be a new clinical manifestation of TS, especially the karyotype of 46, X, i (Xq). It is possible that there are some genes on the short arm of X chromosome, which regulate the number, growth and development of fingers. Early estrogen replacement therapy can greatly benefit patients.

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.

Anaesthetic Management of Turner's Syndrome posted for Modified Radical Mastoidectomy

A 25 year old female, known case of Turner's syndrome was posted for elective Radical Modified Mastoidectomy. Patient had tachycardia, high BP and ECG changes along with all signs and symptoms of Turner's syndrome. During surgery, the aims of anaesthetist were: 1.) To maintain hemodynamic stability, 2.) To provide optimum analgesia intraoperatively and post operatively and 3.) To maintain Peak Airway Pressure within normal limits. Patient was managed intra-operatively by monitoring vitals and maintaining airway pressures. Also airway was secured with blockbuster LMA in order to minimize haemodynamic fluctuations. Surgery was well managed and lasted for 3.5 hours. Patient was managed well intraoperatively with newer supraglottic device and all parameters were served. Patient was smoothly extubated and shifted to recovery with Aldrete score 8 out of 10. Thus, surgery was managed well both intraoperatively and postoperatively and also throughout surgery, patient remained stable. Use of LMA blockbuster was found to be useful and effective in such case for securing airway.

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.

Searching chromosome mosaicisms in 45, X Turner syndrome: how relevant is it?

ABSTRACT Objective: To investigate the presence of chromosome mosaicism, especially for the presence of Y derived material in 45,X women with Turner syndrome (TS). Materials and methods: FISH and PCR were performed for the presence of chromosome mosaicism and Y-derived-material and genetic findings were correlated to clinical data. Results: Thirty-one participants were enrolled: 18 (58%) had chromosome mosaicisms (FISH), Y-derived material was found in 2. Yet, SRY primer was found with PCR in only one of them and DYZ3 was not found. The most frequent clinical findings were short or webbed neck (81,82%), high-arched palate (78%), breast hypertelorism, e cubitus valgus and genu valgus (57.6%, both), short fourth metacarpals (46.9%), epicanthic folds (43.8%), shield chest (43.8%), lymphedema (37.5%), and low set ears (34.4%). Both patients with Y-derived-material had primary amenorrhea, dyslipidemia and reached the height of 150 cm despite not treated with recombinant growth hormone (GHr). One of them showed 26% of leukocytes with Y-derived material and few clinical findings. Conclusions: FISH techniques proved efficient in detecting chromosome mosaicisms and Y-derived material and searching in different tissues such as mouth cells is critical due to the possibility of tissue-specific mosaicism. Phenotypical variance in TS may be a signal of chromosome mosaicisms, especially with the presence of Y-derived material.

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.

Clinical and cytogenetic characteristics of patients diagnosed with Turner syndrome in a clinical genetics service: cross-sectional retrospective study

ABSTRACT BACKGROUND: Turner syndrome (TS) is a rare genetic disease. Understanding its clinical findings contributes to better management of clinical conditions. OBJECTIVE: To investigate the clinical and karyotypic characteristics of patients diagnosed with TS at two reference services for clinical genetics in southern Brazil. DESIGN AND SETTING: Retrospective cross-sectional study conducted in two clinical genetics services in Porto Alegre (RS), Brazil. METHODS: The sample consisted of 59 patients with TS diagnosed from 1993 to 2019. A review of their medical records was performed and a standard protocol was filled out. RESULTS: The average age of the patients at diagnosis was 15.9 years, and 40.7% were over 13 years old. The largest proportion of them (42.4%) had been referred from an endocrinology department and their constitution was 45,X (40.7%). The most common clinical findings were short stature (85.7%), hypoplastic/ hyperconvex nails (61.2%), low posterior hairline (52.1%) and cubitus valgus (45.8%). There was no difference regarding the presence of short stature (P = 0.5943), number of dysmorphia (P = 0.143), anatomical regions affected and malformations identified through imaging examinations (P = 1.0000), regarding the presence or absence of 45,X constitution. Only 6% of the patients had used growth hormone and 43%, estrogen. CONCLUSION: We found that, in general, patients with TS were being diagnosed late. This has important implications for their treatment. In addition, only a small proportion of the patients were undergoing further examination or evaluation, which appeared to be leading to underdiagnosis of many abnormalities.

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.

A case of Turner syndrome with horseshoe kidney and right side duplication kidney with UPJO and double kidney cyst / 中华泌尿外科杂志

This paper reports a rare clinical case of 46 X, i(X)(q10)TS in a female patient with horseshoe kidney and right duplication kidney with renal pelvic and ureteral junction stenosis and double kidney cysts, secondary to right renal calculi and hydronephrosis. After open surgical treatment, the curative effect was definite, which effectively relieved the stenosis at the junction of the renal pelvis and ureter and relieved the clinical symptoms of the patient. The patient was followed up for 3 months and recovered well. When TS is combined with horseshoe kidney with UPJO, open pyeloplasty with partial isthmus and renal fixation are still classic surgical procedures.

Advance in autoimmune diseases related to Turner syndrome / 国际儿科学杂志

Turner syndrome(TS)results from a sex-chromosomal anomaly characterized by presence of one normal X chromosome and the loss of the second X-chromosome in phenotypic females.The typical clinical manifestations of Turner syndrome are short stature, hypogonadal dysplasia, and special physical characteristics(such as neck web, shield chest, elbow valgus, etc.). And it is related to the risk of autoimmune diseases, such as autoimmune thyroiditis, celiac disease, type 1 diabetes, inflammatory bowel disease, alopecia areata or vitiligo.This review will address the autoimmune disorders associated with TS, their pathophysiologic mechanisms and clinical characteristics.