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1.
Rev. cuba. endocrinol ; 30(3): e176, sept.-dic. 2019. graf
Article in Spanish | LILACS, CUMED | ID: biblio-1126444

ABSTRACT

RESUMEN Los trastornos del desarrollo sexual son estados congénitos en los cuales el desarrollo del sexo cromosómico, gonadal o anatómico es atípico. Por tratarse de un caso sumamente raro consideramos de interés su presentación. Se presenta adolescente masculino de 15 años, con antecedentes de genitales atípicos al nacer, desarrollo de baja talla y estigmas turnerianos, pubertad espontánea y normal. Los estudios genéticos determinaron como sexo cromosómico un mosaico 45,X/46,XY/47XYY, y sexo molecular varón. Se inscribió socialmente como varón, se le realizó cirugía de reconstrucción genital y utilizó tratamiento con hormona de crecimiento biosintética que mantiene actualmente. La evolución clínica ha sido favorable con adecuada integración social. Ante la presencia de genitales atípicos al nacer se necesita de un manejo multidisciplinario. El diagnóstico etiológico de los trastornos de la diferenciación sexual requiere de una alta pericia médica. Un tratamiento integral en estos pacientes les garantiza una buena calidad de vida(AU)


ABSTRACT Sexual development´s disorders are congenital states in which the development of the chromosomal, anatomic or gonadal sex is atypical. Since this is a very rare case, we consider it as of interests for presentation. It is presented a teenager, 15-years-old male, with a history of atypical genitalia at birth, development of short height and Turner's stigmas, and spontaneous and normal puberty. The genetic studies identified as chromosomal sex a mosaic 45,X/46,XY/47XYY and male as molecular sex. He was socially registered as a male, he had a genital reconstruction surgery and he was under treatment with biosynthetic growth hormone that he currently maintains. The clinical evolution has been favourable with adequate social integration. In the presence of atypical genitalia at birth, it is needed a multidisciplinary management. The etiological diagnosis of disorders of sexual differentiation requires a high level of medical expertise. A comprehensive treatment in these patients guarantees them a good quality of life(AU)


Subject(s)
Humans , Male , Adolescent , Quality of Life , Disorders of Sex Development/etiology , Sex Reassignment Surgery/methods , Mosaicism , Sex Differentiation , Clinical Evolution
2.
Pesqui. vet. bras ; 39(7): 549-560, July 2019. tab, ilus
Article in English | LILACS, VETINDEX | ID: biblio-1040708

ABSTRACT

Guinea pigs are animal models widely used in research related to developmental biology. The objective of this work was to demonstrate the process of formation and differentiation of urinary organs in females of the species in the prenatal period. Four females were used at 25, 30, 45 and >65 DG (days of gestation). The animals were dissected, and then macroscopic and microscopic descriptions of the urinary organs were performed. At 25 DG metanephros were present in the urogenital crest into the abdominal cavity. Collecting ducts and glomerular precursor cells could be visualized. After this period, metanephros underwent microstructural modifications to form the kidneys at the end of the prenatal period. After 30 DG, the renal parenchyma already had a cortex, where the glomerulus and proximal convoluted tubules were present; and the medulla, where distal convoluted tubules, collecting ducts, and pelvis were present. The pelvis of each kidney was drained by the ureters. The ureters also underwent tissue differentiation to be differentiated (mucosa with transitional epithelium and lamina propria of connective tissue, muscular, and adventitia) at the end of the prenatal period. The urinary vesicle also underwent tissue changes to form the tunics similar to those found in the ureters, with emphasis on the greater volume of the muscular tunica and the lamina propria that constituted the submucosa in this organ. The pelvic urethra was evidenced by a mucosa lined by transitional epithelium, submucosa, muscular and adventitia. Finally, a partial clitoral urethra and a urethral meatus in the prepuce of the clitoris were also evidenced. The urethral channel began to form with the emergence of the urethral plate and the urethral groove at 30 DG and thereafter with the fusion of the urethral folds to form a partially channeled urethra in the clitoris. A urethral meatus was observed in the most distal portion of the clitoral tissue, formed by the fusion of the prepuce. It is concluded that the urinary organs of guinea pig have similar development to that described in domestic animals, except for the partial clitoral urethra and evident urethral meatus.(AU)


Os porquinhos-da-índia são modelos animais amplamente utilizados em pesquisas relacionadas a biologia do desenvolvimento. O objetivo deste trabalho foi demonstrar o processo de formação e diferenciação dos órgãos urinários em fêmeas da espécie no período pré-natal. Foram utilizadas quatro fêmeas aos 25, 30, 45 e >65 DG (dias de gestação). Os animais foram dissecados e então, realizaram-se descrições macroscópicas e microscópicas dos órgãos urinários. Aos 25 DG os metanefros estavam presentes na crista urogenital da cavidade abdominal. Podiam ser visualizados ductos coletores e células precursoras glomerulares. Após este período, os metanefros sofreram modificações microestruturais para formar os rins ao final do período pré-natal. Após os 30 DG, o parênquima renal já apresentava um córtex, onde estavam presentes os glomérulos e túbulos convolutos proximais, e a medula onde estavam presentes túbulos convolutos distais, ductos coletores e a pelve. A pelve de cada rim era drenada pelos ureteres. Os ureteres também sofreram diferenciação tecidual para estarem com suas túnicas diferenciadas (mucosa com epitélio de transição e lâmina própria de tecido conjuntivo; muscular; e, adventícia) ao final do período pré-natal. A vesícula urinária também passou por modificações teciduais para formar as túnicas semelhantes as dos ureteres, com destaque para o maior volume da túnica muscular e a lâmina própria que constituiu a submucosa neste órgão. Uma uretra pélvica foi evidenciada por uma mucosa revestida por epitélio de transição, submucosa, muscular e adventícia. Por último, uma uretra parcialmente clitoriana e um meato uretral no prepúcio do clitóris também foi evidenciado. O canal uretral começou a se formar com o aparecimento da placa uretral e do sulco uretral aos 30 DG e posteriormente com a fusão das pregas uretrais para formar uma uretra parcialmente canalizada no clitóris. Observou-se um meato uretral na porção mais distal do tecido clitoriano, formado pela fusão do prepúcio. Conclui-se que os órgãos urinários do porquinho-da-índia possuem desenvolvimento semelhante ao descrito em animais domésticos, com exceção da uretra parcialmente clitoriana e do meato uretral evidente.(AU)


Subject(s)
Animals , Female , Sex Differentiation , Urethra/growth & development , Urinary Tract/growth & development , Guinea Pigs/anatomy & histology , Guinea Pigs/growth & development
3.
Rev. Bras. Odontol. Leg. RBOL ; 6(1): [21-29], jan-abr 2019.
Article in Portuguese | LILACS | ID: biblio-997171

ABSTRACT

O objetivo desse estudo foi verificar o dimorfismo sexual por meio de medidas lineares (Comprimento do corpo e processo odontóide, Comprimento do processo odontóide, Comprimento do forame vertebral, Largura do forame vertebral, Distância dos processos transversos, Distância do processo transverso esquerdo ao processo espinhoso, Distância do processo transverso direito ao processo espinhoso) da segunda vertebra cervical denominada de áxis. Para tanto foram analisadas 181 áxis, sendo 103 masculinas e 78 femininas, na faixa de idade de 22 a 85 anos, pertencentes ao "Biobanco Tomográfico e Osteológico Prof. Eduardo Daruge da FOP/UNICAMP". Tais medidas foram feitas pelo paquímetro digital marca Stainless ­ hardned ® 150 mm Mauá ­ São Paulo, Brasil, após a calibração inter e intraoperador realizada por meio do teste de correlação intraclasse, teve como resultado o valor de 0,98 considerado excelente. Verificou-se que todas as medidas estudadas são dimórficas e foi possível estabelecer um novo modelo de regressão logística, a partir dos dados obtidos junto às ossadas. Concluiu-se que o modelo de regressão logística gerado ­ Germano Sexo = [- 22.7 + (0.16 × Comprimento do corpo) + (0.31 × Comprimento do forame vertebral) + (0.28 × Distância dos processos transversos)] ­ possui 72,4 % de acerto.


The objective of this study was to verify the sexual dimorphism through linear measurements (length of the body and dentinoid process, length of the dentinoid process, length of the vertebral foramen, width of the vertebral foramen, distance of the transverse processes, distance from the left transverse process to the spinal process , Distance from the right transverse process to the spinous process) of the second cervical vertebra known as the Áxis. For this purpose, 181 Axioms were analyzed, of which 103 were male and 78 were female, in the age range of 22 to 85 years, belonging to the "Tomographic and Osteological Biobank Prof. Eduardo Daruge of FOP / UNICAMP ". These measurements were made by the stainless - hardned ® digital pachymetro 150 mm Mauá - São Paulo, Brazil, after the inter and intra - operator calibration performed through the intraclass correlation test, resulting in a value of 0.98 considered excellent. It was verified that all the measures studied are dimorphic and it was possible to establish a new model of logistic regression, based on the data obtained from the bones. It was concluded that the logistic regression model generated Germano Gender = [- 22.7 + (0.16 × Body length) + (0.31 × Vertebral foramen length) + (0.28 × Distance of transverse processes), with 72.4% of hit.


Subject(s)
Humans , Male , Female , Sex Differentiation , Axis, Cervical Vertebra , Anthropometry , Forensic Anthropology , Models, Theoretical
4.
Annals of Dermatology ; : 446-449, 2019.
Article in English | WPRIM | ID: wpr-762351

ABSTRACT

Hidradenitis suppurativa (HS) is a chronic, inflammatory and painful skin disease with recurrent nodules and tracts involving the intertriginous regions. It is known that the patient with HS shows an increased risk of metabolic disorders such as diabetes, metabolic syndrome and autoimmune diseases. Klinefelter syndrome (KS) is a sex chromosomal disorder occurring in males due to an abnormality of sexual differentiation, characterized by 47, XXY karyotype. Also, KS is related with somatic comorbidities such as metabolic syndrome, autoimmune and rheumatologic disorders as HS is. We report a HS patient with KS who shows a big improvement while on tumor necrosis factor-alpha inhibitor treatment.


Subject(s)
Adalimumab , Autoimmune Diseases , Chromosome Disorders , Comorbidity , Hidradenitis Suppurativa , Hidradenitis , Humans , Karyotype , Klinefelter Syndrome , Male , Sex Differentiation , Skin Diseases , Tumor Necrosis Factor-alpha
5.
Diagn. tratamento ; 23(3): [105-108], jul.-set. 2018.
Article in Portuguese | LILACS | ID: biblio-969313

ABSTRACT

Diversos estudos por neuroimagens constataram diferenças morfológicas cerebrais entre homens e mulheres cisgêneros. Cisgênero (cis) é o termo empregado para nomear as pessoas que não apresentam desconforto entre o sexo designado ao nascimento e o gênero com o qual se identificam. Está bem estabelecido que o volume total cerebral e da substância branca é maior nos homens cis do que nas mulheres cis, bem como que a proporção da substância cinzenta é maior nas mulheres cis. Determinadas regiões cerebrais da substância cinzenta também apresentam diferenças de volume entre os homens e mulheres cis, especialmente: o córtex insular, as estruturas límbicas, os gânglios da base, as regiões corticais relacionadas à linguagem e o cerebelo. Contudo, são escassos estudos que tenham contemplado diferenças morfológicas sexuais cerebrais em pessoas cuja identidade de gênero é diferente daquela que está associada ao sexo que lhes foi atribuído no nascimento, genericamente denominados indivíduos transgêneros (trans). As diferenças de volume da substância cinzenta em indivíduos trans constatadas em alguns estudos chamam a atenção para estruturas cerebrais relacionadas com a percepção corporal. Recentemente, um estudo identificou variações no volume da ínsula em dois grupos de mulheres trans (com e sem uso de hormônios), apontando que essa diferença pode ser uma característica dessas pessoas. Os estudos por neuroimagens reforçam a ideia de que a identidade de gênero dos indivíduos trans está associada a uma variação fisiológica humana.


Subject(s)
Humans , Male , Female , Sex Differentiation , Magnetic Resonance Imaging , Cerebrum , Transgender Persons , Gender Dysphoria
6.
Int. j. morphol ; 36(2): 677-686, jun. 2018. tab, graf
Article in English | LILACS | ID: biblio-954171

ABSTRACT

The aim of this study was to know the embryonic and fetal development of the female rabbit genital system (Oryctolagus cuniculus), describing its main phases and the moment of sexual differentiation. Eleven pregnant New Zealand female rabbits were used in different gestational phases. The day of coitus was determined as day 0. For each stage a minimum of two animals was considered. The samples were obtained every two days from the ninth day post-coitus (dpc) until the 28th dpc. The gestational period was divided in two: animals with undifferentiated sex (group 1) and animals with differentiated sex (group 2). The ages of embryos and fetuses were estimated through the crown-rump method. Subsequently, embryos and fetuses were dissected, fixed and processed to be embedded in paraffin (Histosec). The histological analysis was performed on sections stained with hematoxylin and eosin. Immunohistochemical analysis to determine sexual differentiation was performed on samples from the 16th, 18th and 28th dpc. Desert Hedgehog (Dhh) and Indian Hedgehog (Ihh) primary antibodies, respectively, were used to identify cells of the male and female germinal epithelium. The immunohistochemical results showed that at the 16th dpc, female sexual differentiation was evident, since positive expression of the Ihh protein was observed. Sexual differentiation was obtained through histological analysis on the 18th dpc and through anatomical observation of the external genitalia on the 24th dpc. Knowing the characteristics of the embryonic and fetal development of the female rabbit genital system as well as the moment of sexual differentiation make it possible to establish bases for future research that address the physiology and pathology of these organs. Thus, any alteration in the chain of events of sexual determination and differentiation must search for an explanation from the knowledge of the possible normal mechanisms affected.


El objetivo de esta investigación fue conocer el desarrollo embrionario y fetal del sistema genital femenino de conejo (Oryctolagus cuniculus), describiendo sus principales fases y el momento de la diferenciación sexual. Se utilizaron 11 conejos hembras gestantes neozelandesas, en diferentes fases gestacionales. El día del coito se determinó como día 0. Para cada etapa fue considerado un mínimos de dos animales. Las muestras fueron obtenidas cada dos días, a partir del noveno día post-coito (dpc) hasta el 28 dpc. El periodo gestacional fue dividido en dos: animales con sexo indiferenciado (grupo 1) y, animales con sexo diferenciado (grupo 2). Las edades de los embriones y los fetos fueron estimadas a través del método de crown-rump. Posteriormente, embriones y fetos fueron disecados, fijados y procesados para su inclusión en parafina (Histosec). El análisis histológico se realizó en secciones teñidas con Hematoxilina y Eosina. El análisis inmunohistoquímico para determinar la diferenciación sexual fue realizado en muestras de 16, 18 y 28 dpc. Para identificar células del epitelio germinativo masculino y feminino se utilizaron los anticuerpos primarios Desert Hedgehog (Dhh) e Indian Hedgehog (Ihh), respectivamente. Los resultados inmunohistoquímicos mostraron que a los 16 dpc se evidenció diferenciación sexual femenina, ya que se observó expresión positiva de la proteína Ihh. La diferenciación sexual, a través del análisis histológico fue obtenida a los 18 dpc y a través de la observación anatómica de los genitales externos a los 24 dpc. Conocer las características del desarrollo embrionario y fetal del sistema genital femenino de conejo, así como, el momento de la diferenciación sexual, permiten sentar bases para futuras investigaciones que aborden la fisiología y patología de estos órganos. Así, cualquier alteración en la cadena de eventos de la determinación y diferenciación sexual deberá buscar una explicación a partir del conocimiento de los posibles mecanismos normales afectados.


Subject(s)
Animals , Male , Female , Pregnancy , Rabbits/embryology , Sex Differentiation/physiology , Embryo, Mammalian/anatomy & histology , Embryonic and Fetal Development/physiology , Immunohistochemistry
7.
Article in English | WPRIM | ID: wpr-719219

ABSTRACT

Androgen insensitivity syndrome (AIS) is a rare genetic disease caused by various abnormalities in the androgen receptor (AR). The AR is an essential steroid hormone receptor that plays a critical role in male sexual differentiation and development and preservation of the male phenotype. Mutations in the AR gene on the X chromosome cause malfunction of the AR so that a 46,XY karyotype male has some physical characteristics of a woman or a full female phenotype. Depending on the phenotype, AIS can be classified as complete, partial or mild. Here, we report 2 cases of complete AIS in young children who showed complete sex reversal from male to female as a result of AR mutations. They had palpable inguinal masses and normal female external genitalia, a blind-end vagina and absent Müllerian duct derivatives. They were both 46,XY karyotype and AR gene analysis demonstrated pathologic mutations in both. Because AIS is inherited in an X-linked recessive manner, we performed genetic analysis of the female family members of each patient and found the same mutation in the mothers of both patients and in the female sibling of case 2. Gonadectomy was performed in both patients to avoid the risk of malignancy in the undescended testicles, and estrogen replacement therapy is planned for their adolescence. Individuals with complete AIS are usually raised as females and need appropriate care.


Subject(s)
Adolescent , Androgen-Insensitivity Syndrome , Child , Disorders of Sex Development , Estrogen Replacement Therapy , Female , Genitalia , Humans , Karyotype , Male , Mothers , Phenotype , Receptors, Androgen , Sex Differentiation , Siblings , Testis , Vagina , X Chromosome
8.
Arq. Inst. Biol ; 85: e0432017, 2018. ilus
Article in English | LILACS, VETINDEX | ID: biblio-999203

ABSTRACT

The weevil Ozopherus muricatus Pascoe, 1872 (Coleoptera: Curculionidae) is already considered a pest in Brazil for açaí palm (Euterpe oleracea Mart.) plantations. Its presence has become more frequent and caused significant reduction in the production of açaí fruit. Studies on the biology of this insect pest are still scarce, hindering its management. For studies on pheromones, for instance, it is essential to correctly identify the sex of the insect. The objective of this study was to evaluate the existence of sexual dimorphism in pupae and adults of O. muricatus in order to allow the identification of males and females. Larvae, pupae and adults were collected from açaí plantations and kept in biochemical oxygen demand (BOD) type incubation chambers. Adults and pupae were examined under a stereomicroscope, and dimorphism was determined through observation of external morphological characteristics. In addition, adults were dissected in order to observe genitalia and confirm the sex of specimens. In the pupae, sexual dimorphism was characterized by the presence of two protuberances in the terminal ventral region of the abdomen of females, which were absent in males. In adults, sexual dimorphism was also observed, based on the final abdominal segments. In males, it was possible to see all eight abdominal tergites, while in females tergite VIII is covered by tergite VII. Thus, the sexual dimorphism present in the morphological characteristics of O. muricatus allows the distinction between males and females of this species.(AU)


O gorgulho Ozopherus muricatus Pascoe, 1872 (Coleoptera: Curculionidae) já é considerado uma praga em plantações de açaí (Euterpe oleracea Mart.) no Brasil. Sua presença tem se tornado mais frequente e causado redução significativa na produção de frutos. Estudos sobre a biologia dessa praga ainda são escassos, dificultando o seu manejo. Para estudos com feromônios, por exemplo, é essencial a correta identificação do sexo do inseto. O objetivo deste estudo foi avaliar a existência de dimorfismo sexual em pupas e em adultos de O. muricatus, a fim de permitir a identificação de machos e fêmeas. Larvas, pupas e adultos foram coletados de plantações de açaí e mantidos em câmaras incubadoras para demanda bioquímica de oxigênio (DBO). Adultos e pupas foram examinados sob microscópio estereoscópico, e o dimorfismo foi determinado por meio da observação de características morfológicas externas. Adicionalmente, adultos foram dissecados para a observação da genitália e confirmação do sexo dos espécimes. Nas pupas, o dimorfismo sexual foi caracterizado pela presença de duas protuberâncias na região terminal ventral do abdome das fêmeas, as quais foram ausentes nos machos. Nos adultos, também se observou dimorfismo sexual, com base nos segmentos finais do abdome. Nos machos, é possível visualizar todos os oito tergitos abdominais, enquanto nas fêmeas o tergito VIII é encoberto pelo tergito VII. Assim, o dimorfismo sexual presente nas características morfológicas de O. muricatus permite distinção entre machos e fêmeas dessa espécie.(AU)


Subject(s)
Coleoptera , Weevils , Sex Differentiation , Euterpe
9.
Med. infant ; 24(2): 127-138, Junio 2017. tab
Article in Spanish | LILACS | ID: biblio-878777

ABSTRACT

El Hospital Garrahan realiza la atención interdisciplinaria de niños con "Anomalías de la Diferenciación Sexual". Es importante conocer el estado emocional de los padres de los pacientes con diagnóstico de DSD (Disorders of Sex Development).para comprender y acompañar de la mejor manera el proceso por el que deberán atravesar estas familias. El objetivo del trabajo es: Identificar indicadores de vulnerabilidad y/o afectación psicoemocional de los padres, empleando para ello entrevistas semidirigidas e instrumentos científicamente validados .Se aplicaron Escalas de ansiedad, de depresión, Cuestionario de Salud SF-36, el Pediatric Inventory for Parents (PIP), y el Cuestionario de afrontamiento para adultos CAE. Se realizó un estudio Descriptivo de corte transversal. Resultados. Se entrevistaron 53 padres. El promedio de edad 28 años. El 24,5% pertenece al Cono Urbano, 11,3% a CABA, y 22,6% a otras provincias . Nivel educativo: primaria completa 49%, secundaria 24,5%, estudios terciarios y universitarios 5,6%y 3,7%, no terminaron la primaria 9,4%, secundario 7,8%. En cuanto a la información recibida, diagnóstico, estudios, indicaciones, y recomendaciones para la asignación de sexo de sus hijos, y las medidas al respecto; 49% alcanzó una comprensión regular, 13,2% tenía una mala calidad de información, 37% logró una buena información . El CAE describe las estrategias para hacer frente a situaciones estresantes, el refugio en creencias y la religión presentó la mayor cantidad el 64%, los estilos de afrontamiento evaluación emocional abierta y la autofocalización negativa (54% y 52% respectivamente), focalización en la solución del problema (45%), la reevaluación positiva de las situaciones (35%) y la evitación (23%). El recurso menos utilizado es la búsqueda de apoyo social (19%). Otra de las variables estudiadas fue la depresión como indicador de malestar,se utilizó el test de Hamilton, presentando No depresión (38,3%), depresión ligera/menor (25%), depresión mayor (13,3%), depresión moderada y depresión severa (5% cada una), y un porcentaje no contestó (13,3%). En el PIP, perciben que la comunicación de información médica es estresante en un 37,3% y también sienten que debe esforzarse para comprenderla en un 52,9%. Los cuidados médicos que deben asumir representan un factor estresante para el 58,8%, y creen necesitar esforzarse para asumirlos el 70,6%. Por otro lado consideran que tener que manejar las relaciones familiares paralelas a la situación de enfermedad de sus hijos es estresante en un 60,8%, debiendo esforzarse para afrontarlas en un 41,2% de los casos (AU)


At Garrahan Hospital children with "sex differentiation anomalies" are managed in a multidisciplinary team. It is important to know the emotional state of the parents of patients with a diagnosis of disorders of sex development (DSDs) in order to understand and best accompany the family in the process they have to go through. The aim of this study was to identify markers of vulnerability and/or psycho-emotional affectation of the parents, using semistructured interviews and scientifically validated instruments. The Scales of Anxiety, of Depression, the Short Form (SF-36) Health Survey, the Pediatric Inventory for Parents (PIP), and the coping questionnaire for adults (CAE) were used. A descriptive cross-sectional study was performed. Results: 53 parents were interviewed. Mean age was 28 years. Overall, 24.5% was from Greater Buenos Aires, 11.3% from the city of Buenos Aires, and 22.6% from other provinces. Educational level: 49% completed primary school, 24.5% completed secondary school, and 5.6% and 3.7% completed tertiary or university education; 9.4% had not completed primary and 7.8% secondary school. Regarding information received,: 49% had a regular understanding, 13.2% had a poor understanding, and 37% had a good understanding of the information. The CAE describes strategies to cope with stressful situations; beliefs and religion were the most common in 64%, strategies of open emotion-focused coping and self-blame (54% and 52%, respectively), problem-focused coping (45%), a positive reappraisal of the situations (35%), and denial (23%). The least used coping resource was looking for social support (19%). Other variables studied were depression as a marker of discomfort: The Hamilton Rating Scale for Depression was used, showing No depression (38.3%), mild/minor depression (25%), major depression (13.3%), moderate and severe depression (5% each), and a percentage did not respond (13.3%). Using the PIP it was found that medical communication was found to be stressful in 37.3% and 52.9% felt they had to make an effort to understand the information. The medical care the parents have to assume was a stressing factor for 58.8%, and 70.6% believed they had to make an effort to assume the care. On the other hand, 60.8% believed that having to manage family relationships parallel to the disease situation of their children was stressful, and it was felt by 41.2% they had to make an effort to cope with that situation (AU)


Subject(s)
Humans , Infant, Newborn , Infant , Child, Preschool , Adult , Adaptation, Psychological , Disorders of Sex Development/psychology , Family/psychology , Parents/psychology , Sex Differentiation , Patient Care Team , Surveys and Questionnaires
10.
Cuestiones infanc ; 19: 113-119, 2017.
Article in Spanish | LILACS | ID: biblio-905004

ABSTRACT

Se realiza el comentario sobre el caso de Augusto, un niño de nueve años, quien presenta problemas en el aprendizaje escolar, poniendo de relieve las dificultades de separación y discriminación en distintos vínculos del medio ambiente del niño. El contexto familiar (y quizás también escolar) en los que este niño está inmerso sugiere formular que a esta consulta por problemas de aprendizaje subyace un problema de construcción subjetiva donde las fallas en los hitos simbólicos de separación e individuación acercan al diagnóstico de un trastorno narcisista no psicótico. (AU)


A commentary about the case of Augusto, a nine-year old boy, who presents school learning problems, is made. This commentary highlights the difficulties of separation and discrimination in different relationships from the child's environment. The family context (and may be also the school context) in which this child is involved suggest formulating that to this consultation due to learning problems it under lies a subjective construction problem in which the faults in the symbolic milestones of separation and individuation approach to the diagnosis of a non-psychotic narcissism disorder. (AU)


Le présent commentaire est centré sur le cas d'Augusto, un enfant de neuf ans ayant des problèmes d'apprentissage scolaire, ce qui met en relief les difficultés de séparation et de discrimination dans les différents rapports établis dansson environnement. Le contexte familial (et peut-être aussi le scolaire) dans lequel est plongé cet enfant laisse supposer que derrière cette consultation concernant des problèmes d'apprentissage se cache un problème de construction subjective, où les défauts dans les événements symboliques de séparation et d'individuation suggèrent le diagnostic d'un trouble narcissique non psychotique. (AU)


Subject(s)
Child , Anxiety, Castration , Case Reports , Psychology, Child , Psychology, Educational , Sex Characteristics , Sex Differentiation , Sexism
11.
Femina ; 44(3): 201-206, 20160930. ilus
Article in Portuguese | LILACS | ID: biblio-1050866

ABSTRACT

As anormalidades da diferenciação sexual são infrequentes na prática clínica. A caracterização de uma ampla variedade de síndromes tem sido muitas vezes confusa, necessitando, com relativa frequência, a consulta de múltiplos livros e uso constante de referências para uma correta compreensão. O presente artigo tem a proposta de revisar as entidades mais frequentes, seus métodos diagnósticos e sua conveniente orientação.(AU)


Abnormal sexual differentiation is not frequently seen in an individual clinician's practice. The categories of many syndromes in this area require special and constant references to review many papers and books to understand these abnormalities. In this paper, the most frequent syndromes are described, and their diagnostic methods and proposals for correct orientation are provided.(AU)


Subject(s)
Humans , Male , Female , Pregnancy , Sex Differentiation/genetics , Urogenital Abnormalities/diagnosis , Urogenital Abnormalities/etiology , Urogenital Abnormalities/genetics , Disorders of Sex Development/embryology , Uterus/abnormalities , Vagina/abnormalities , Primary Ovarian Insufficiency , Sexual Development/genetics , Ovotesticular Disorders of Sex Development , Disorder of Sex Development, 46,XY , Gonadal Dysgenesis/embryology , Mullerian Ducts/abnormalities
12.
Estud. Interdiscip. Psicol ; 7(1): 3-19, jun. 2016.
Article in Portuguese | LILACS | ID: biblio-999369

ABSTRACT

Este estudo teve por objetivo examinar a trajetória histórica do posicionamento oficial do Conselho Federal de Medicina (CFM) acerca dos procedimentos médicos associados às demandas do Processo Transexualizador (PrTr). Como objetivo específico, discutir as implicações das normatizações existentes, que regulam as intervenções médicas no campo da transgenitalização, para que se possa repensar a formação médica e de outros profissionais de saúde. O método utilizado consiste na análise documental, realizada a partir do banco de dados de pareceres, resoluções, notas técnicas, despachos e recomendações do CFM, com foco nos documentos oficiais de domínio público, que abordam o posicionamento dessa entidade representativa da classe médica em relação à realização de cirurgias de transgenitalização e prescrição da hormonioterapia para pessoas trans. Por meio dessa análise foi possível traçar, retrospectivamente, a evolução desse posicionamento e identificar quais foram os prováveis fatores que desencadearam progressivas mudanças da posição oficial assumida pelo CFM em relação à legalidade e aos aspectos éticos envolvidos nessas intervenções.


This study aimed to examine the historical trajectory of the official position of the Federal Medical Council (FMC) regarding medical procedures associated with the demands of the Transsexualizing Process (PrTr). As a specific objective, to discuss the implications of existing norms, which regulate medical interventions in the field of transgenitalization, in order to rethink the medical and other health professionals' training. The method used consists of the documentary analysis, based on the database of opinions, resolutions, technical notes, orders and recommendations of the FMC, focusing on official documents in the public domain, which deal with the positioning of this representative body of the medical profession in relation transgender surgery and prescription of hormone therapy for transgender people. Through this analysis, it was possible to trace, retrospectively, the evolution of this position and to identify which were the probable factors that triggered progressive changes of the official position assumed by the FMC in relation to the legality and the ethical aspects involved in these interventions.


Este estudio tuvo por objeto examinar la trayectoria histórica del posicionamiento oficial del Consejo Federal de Medicina (CFM) acerca de los procedimientos médicos asociados a las demandas del Proceso Transexualizador (PrTr). Como objetivo específico, discutir las implicaciones de las normativas existentes, que regulan las intervenciones médicas en el campo de la transgenitalización, para que se pueda repensar la formación médica y de otros profesionales de salud. El método utilizado consiste en el análisis documental, realizado a partir del banco de datos de opiniones, resoluciones, notas técnicas, despachos y recomendaciones del CFM, con foco en los documentos oficiales de dominio público, que abordan el posicionamiento de esa entidad representativa de la clase médica con relación a la realización de cirugías de transgenitalización y prescripción de la terapia hormonal para personas transgénero. Por medio de este análisis fue posible trazar retrospectivamente la evolución de ese posicionamiento e identificar cuáles fueron los probables factores que desencadenaron progresivos cambios de la posición oficial asumida por el CFM en relación a la legalidad ya los aspectos éticos involucrados en esas intervenciones.


Subject(s)
Humans , Sex Differentiation , Sex Reassignment Surgery , Transgender Persons , Gender Identity
13.
Int. j. morphol ; 34(2): 575-579, June 2016. ilus
Article in English | LILACS | ID: lil-787039

ABSTRACT

In birds, male embryo the gonads develop bilateral testes, in which both left and right sides produce functional spermatozoa, whereas female embryo, only the left gonad develops into a functional ovary. Estrogen plays a key role in avian sex determination in both sexes by binding to the estrogen receptor (ER). Surprisingly, chicken estrogen receptor (cER) mRNA is expressed in both sexes; moreover; its expression is only expressed in the left male gonad. The present study aimed to localize ER protein in the left gonad of male quail embryo using immunohistochemistry. The 8-day-old male quail embryos whose embryonic sex distinguished by gonadal morphology were studied. Histology of the left male gonad displayed thin cortex containing 1 to 2 layers of the germinal epithelium, while testicular cords were observed in the medulla. ER-immunoreactive cells were only found in the germinal epithelium but not in the medulla. Localization of ER was detected in the nucleus and cytoplasm of the germinal epithelial cells. The number of ER-immunoreactive cells counted in upper, lateral, and lower regions of the germinal epithelium was 18.20±1.892, 17.60±1.887, and 16.20±1.290, respectively. This study shows the first evidence for expression of ER protein in the left male gonad of the avian embryo, indicating that ER plays a role in avian gonadal sex differentiation.


En las aves, la gónada embrionaria en los machos se desarrolla bilateralmente, ambos testículos producen espermatozoides funcionales, mientras que en el embrión hembra, sólo la gónada izquierda se convierte en un ovario funcional. El estrógeno juega un papel clave en la determinación del sexo aviar, en ambos sexos, mediante la unión al receptor de estrógeno (RE). Fuertemente los receptores de estrógenos de pollo (cRE) el ARNm se expresan en ambos sexos; además, su expresión sólo se produce en la gónada izquierda del macho. El objetivo fue localizar proteínas del RE en la gónada izquierda de embriones de codorniz macho mediante inmunohistoquímica. Se estudiaron embriones de codorniz machos a los 8 días de edad, cuyo sexo embrionario se distinguió por la morfología de las gónadas. La histología de la gónada izquierda estuvo representada por la corteza delgada que contiene de 1 a 2 capas del epitelio germinal, mientras que se observaron cordones testiculares en la médula. El RE se encontró en células inmunorreactivas del epitelio germinal, pero no en la médula. Se detectó la localización de RE en el núcleo y el citoplasma de las células epiteliales germinales. El número de células RE-inmunorreactivas en las regiones superior, lateral e inferior del epitelio germinal fue de 18,20±1,892, 17,60±1,887 y 16,20±1,290, respectivamente. Este estudio muestra la primera evidencia de expresión de la proteína de RE en la gónada izquierda del embrión aviar macho, lo que indica que el RE desempeña un papel en la diferenciación sexual de la gónada aviar.


Subject(s)
Animals , Male , Coturnix/embryology , Gonads/metabolism , Receptors, Estrogen/metabolism , Sex Differentiation , Cell Differentiation , Gonads/embryology , Immunohistochemistry , Quail/embryology
14.
Rev. paul. pediatr ; 34(1): 91-98, Mar. 2016. tab
Article in Portuguese | LILACS | ID: lil-776545

ABSTRACT

To describe the profile of patients with genitourinary abnormalities treated at a tertiary hospital genetics service. Methods: Cross-sectional study of 1068 medical records of patients treated between April/2008 and August/2014. A total of 115 cases suggestive of genitourinary anomalies were selected, regardless of age. A standardized clinical protocol was used, as well as karyotype, hormone levels and genitourinary ultrasound for basic evaluation. Laparoscopy, gonadal biopsy and molecular studies were performed in specific cases. Patients with genitourinary malformations were classified as genitourinary anomalies (GUA), whereas the others, as Disorders of Sex Differentiation (DSD). Chi-square, Fisher and Kruskal–Wallis tests were used for statistical analysis and comparison between groups. Results: 80 subjects met the inclusion criteria, 91% with DSD and 9% with isolated/syndromic GUA. The age was younger in the GUA group (p<0.02), but these groups did not differ regarding external and internal genitalia, as well as karyotype. Karyotype 46,XY was verified in 55% and chromosomal aberrations in 17.5% of cases. Ambiguous genitalia occurred in 45%, predominantly in 46,XX patients (p<0.006). Disorders of Gonadal Differentiation accounted for 25% and congenital adrenal hyperplasia, for 17.5% of the sample. Consanguinity occurred in 16%, recurrence in 12%, lack of birth certificate in 20% and interrupted follow-up in 31% of cases. Conclusions: Patients with DSD predominated. Ambiguous genitalia and abnormal sexual differentiation were more frequent among infants and prepubertal individuals. Congenital adrenal hyperplasia was the most prevalent nosology. Younger patients were more common in the GUA group. Abandonment and lower frequency of birth certificate occurred in patients with ambiguous or malformed genitalia. These characteristics corroborate the literature and show the biopsychosocial impact of genitourinary anomalies.


Descrever o perfil de pacientes com anormalidades geniturinárias atendidos em serviço de genética de hospital terciário. Métodos: Estudo transversal de 1.068 prontuários de pacientes atendidos entre abril/2008 e agosto/2014. Foram selecionados 115 casos sugestivos de anomalias geniturinárias, independentemente da idade. Usaram-se protocolo clínico padronizado, cariótipo, hormônios e ultrassonografia geniturinária para avaliação básica. Laparoscopia, biopsia gonadal e estudos moleculares foram feitos em casos específicos. Pacientes com malformações geniturinárias foram classificados como defeitos geniturinários (DGU), os demais, como distúrbios da diferenciação do sexo (DDS). Usaram-se qui-quadrado, Fisher e Kruskal-Wallis para análise estatística e comparação entre os grupos. Resultados: Preencheram os critérios de inclusão 80 sujeitos, 91% com DDS e 9% com DGU isolados/sindrômicos. A idade foi menor no grupo DGU (p<0,02), mas esses grupos não diferiram quanto a genitália externa, interna e cariótipo. Verificou-se cariótipo 46,XY em 55% e aberrações cromossômicas em 17,5% dos casos. Ambiguidade genital ocorreu em 45%, predominou em pacientes 46,XX (p<0,006). Distúrbios da diferenciação gonadal representaram 25% e hiperplasia adrenal congênita; 17,5% da amostra. Consanguinidade ocorreu em 16%, recorrência em 12%, ausência de registro civil em 20% e interrupção do seguimento em 31% dos casos. Conclusões: Predominaram pacientes com DDS. Ambiguidade genital e diferenciação sexual anômala foram mais frequentes entre recém-nascidos e pré-púberes. Hiperplasia adrenal congênita foi a nosologia mais prevalente. Pacientes mais jovens pertenciam ao grupo DGU. Menor frequência de registro civil e abandono ocorreram em pacientes com genitália ambígua ou malformada. Essas características corroboram a literatura e evidenciam o impacto biopsicossocial das anormalidades geniturinárias.


Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Adult , Urogenital Abnormalities/etiology , Sex Differentiation/genetics , Genitalia/abnormalities
15.
East Afr. Med. J ; 93(1): 10-14, 2016.
Article in English | AIM | ID: biblio-1261399

ABSTRACT

Background: Disorders of sexual differentiation (DSD) are a group of congenital anomalies characterised by discordance between genetic; gonadal and phenotypic sex. There has been remarkable evolution in management over the last decade; including nomenclature; diagnosis and management. There has also been increased awareness and interest from patients and the public; including legal opinion. There has however been no local study to document and evaluate management in Kenya.Objective: To describe management of patients presenting with DSD at Kenyatta National Hospital (KNH) over a 10 year period. Design: Retrospective descriptive study.Setting: Kenyatta National Hospital.Subjects: Patients diagnosed with DSD.Results: A total of 30 patients whose charts were available were reviewed. Age ranged from birth to 19 years (median 5 months) at diagnosis. Presumed gender was assigned at birth in 28 patients. Karyotyping was available in 23(76%) patients. Other common tests included blood tests (23; 76%); ultrasound scan (14; 47%); contrast studies (3; 10%) and exploratory laparoscopy or laparotomy. 46XX and 46XY DSD were the most common conditions encountered (13; 43% and 7; 23% respectively). The commonest operations were correction of hypospadias and orchidopexy (55%); followed by feminising genitoplasty (16%). Only two patients had gender reassignment. Fifteen patients were asked how they feel about their current gender; and 11 expressed satisfaction. Conclusion: DSD is a relatively rare condition. There are also no strict protocols being followed. Management at KNH is acceptable although there is a lack of facilities to carry out many requisite investigations


Subject(s)
Disease Management , Disorders of Sex Development/diagnosis , Hospitals , Sex Differentiation
16.
Rev. cuba. pediatr ; 87(4): 515-521, oct.-dic. 2015. ilus
Article in Spanish | LILACS, CUMED | ID: lil-765787

ABSTRACT

La diferenciación sexual es un proceso genéticamente determinado y controlado, que puede ser alterado por diferentes tipos de mutaciones genéticas, o por el efecto de hormonas u otros disruptores ambientales que actúan sobre el embrión, resultando en la formación de genitales externos que no se corresponden con el sexo genético y con los genitales internos. La disgenesia gonadal mixta clasifica en los desórdenes de la diferenciación sexual de causa cromosómica. Se describe un paciente de un año de edad que es atendido en el Hospital Pediátrico “Juan Manuel Márquez”, por presentar genitales externos atípicos. El diagnóstico del paciente fue de disgenesia gonadal mixta, y se realizó con los complementarios siguientes: ecografía ginecológica, estudios hormonales y cariotipo. El tratamiento instaurado inicialmente, fue quirúrgico en dos tiempos operatorios, y el seguimiento hormonal hasta la pubertad (14 años), cuando se inició terapia de reemplazo hormonal según lo establecido por la edad de la paciente.


Sex differentiation is a genetically determined and controlled process that may be altered by various types of genetic mutations or by the effect of hormones or other environmental disruptors acting upon the embryo. The result is the formation of external genitalia that does not match with the genetic sex and the internal genitalia. Mixed gonadal dysgenesis is classified into the sexual differentiation disorders of chromosomal cause. Here is a one-year old child, who was seen at “Juan Manuel Marquez” pediatric hospital since he presented with atypical external genitalia. The diagnosis was mixed gonadal dysgenesis, based on supplementary tests like gynecological echography, hormone studies and karyotype. The initial treatment was surgical in two surgical times, and the hormonal follow-up lasted till puberty (14 years) when the hormone replacement therapy started according to the indications for the patient's age.


Subject(s)
Humans , Female , Sex Differentiation/genetics , Gonadal Dysgenesis, Mixed/surgery , Gonadal Dysgenesis, Mixed/diagnosis , Sex Chromosomes
17.
Rev. obstet. ginecol. Venezuela ; 75(4): 250-259, dic. 2015. ilus, tab
Article in Spanish | LILACS | ID: lil-783107

ABSTRACT

OBJETIVO: Determinar los valores de hormona antimülleriana en pacientes con síndrome de ovario poliquístico de la consulta de Endocrinología Ginecológica del Hospital Universitario de Caracas en el lapso de marzo-septiembre de 2013. MÉTODOS: Se realizó un estudio de tipo prospectivo, descriptivo y longitudinal, con muestreo secuencial simple de 30 pacientes entre los 18-39 años que cumplían con los criterios de Rotterdam. Se realizaron determinaciones de hormona antimülleriana tomando como valor control 3,5 para síndrome de ovario poliquístico. Se determinaron los niveles de hormona antimülleriana en los diferentes grupos etarios y se correlacionaron los valores de la hormona según la presencia de ciclos ovulatorios o anovulatorios y su relación con el índice de masa corporal y con niveles de andrógenos. RESULTADOS: El total de la muestra fue de 30 pacientes: 20 % (6/30) entre los 18 y 24 años, 56,5 7 % (17/30) 25-30 años, 16, 7 % (5/30) 31-36 años y 6, 7 %(2/30) 37-40 años. El índice de masa corporal osciló entre 19 y 48 kg/m² con mediana en 26,10 kg/m². Los valores de hormona antimülleriana oscilaron entre 1,90 y 22,20, x=10,22. El 3,33 %(1/30) presentó valores inferiores a 3 y el 96,6 7 % (29/30) superaron este valor. Se establecieron los valores de hormona antimülleriana para los distintos grupos etarios que componen la muestra. El coeficiente de correlación de Pearson entre índice de masa corporal y hormona antimülleriana reporta un valor r=0,03 lo que sugiere una relación directa muy baja entre ambas variables. Al considerar la condición de ciclos anovulatorios dependiente de hormona antimülleriana, el coeficiente alcanza el valor 0,95, con una relación muy alta, donde 24 pacientes anovulatorias tienen valores de hormona antimülleriana que oscilan entre 4,80 y 22,20, x=10,86. El coeficiente de correlación de Pearson r=-0,03 indica una relación inversa muy baja entre hormona antimülleriana y 17OHPG y el coeficiente de correlación de Pearson r=0,04 indica una relación directa muy baja entre hormona antimülleriana y testosterona. CONCLUSIONES: La hormona antimülleriana se encuentra elevada en pacientes con síndrome de ovario poliquístico (valores superiores a 3). No se encontró relación significativa entre niveles de hormona antimülleriana e índice de masa corporal y una relación directa muy baja con la presencia de hiperandrogenismo bioquímico. Sin embargo, si se encontró correlación entre los ciclos anovulatorios y más elevados de hormona antimülleriana.


OBJECTIVE: To determine the values of antimülleriana hormone in patients with polycystic ovary syndrome who were treated at the Gynecology office of the University Hospital of Caracas between March to September 2013. METHODS: A prospective, descriptive and longitudinal study with simple sequential sampling of 30 patients between the ages of 18-39 who met the Rotterdam criteria was performed. Antimülleriana hormone determinations were performed using a 3.5 value as a control for polycystic ovary syndrome. Antimülleriana hormone levels were determined in the different age groups and hormone values were then correlated according to the presence of ovulatory or anovulatory cycles and its relationship with BMI and androgen levels. RESULTS: 30 patients were recruited for the study: 20 % (6/30) between 18 and 24 years old, 56.5 7 % (17/30) between 25-30 years old, 16. 7 % (5/30) between 31-36 years old and 6. 7 % (2/30) between 37-40 years old. The BMI ranged between 19 and 48 kg/m² with a median of 26.10 kg/m². The antimülleriana hormone values ranged between 1.90 and 22.20, x = 10.22. 3.33 % (1/30) had values less than 3 and 96.6 7 % (29/30) exceeded this value. Antimülleriana hormone values were established for the different age groups. The Pearson correlation coefficient between BMI and antimülleriana hormone yielded a value of r = 0.03 suggesting a very low direct relationship between the two variables. When considering the anovulatory cycles condition dependent of antimülleriana hormone, the eta coefficient value reached 0.95 with a very high relationship, where 24 anovulatory patients with antimülleriana hormone values ranging between 4.80 and 22.20, x = 10, 86. The Pearson correlation coefficient r = -0.03 indicates a very low inverse relationship between the antimülleriana hormone and the 17OHPG. Also the Pearson correlation coefficient r = 0.04 indicates a very low direct relationship between antimülleriana hormone and testosterone. CONCLUSIONS: The antimülleriana hormone is elevated in patients with polycystic ovary syndrome (values greater than 3). No significant relationship was found between antimülleriana hormone and BMI levels and a very low direct relationship with the presence of biochemical hyperandrogenism. However, a dependency among the anovulatory cycles dependent of the higher values of antimülleriana hormone was found.


Subject(s)
Humans , Male , Female , Anti-Mullerian Hormone , Body Mass Index , Chronic Disease , Genetic Heterogeneity , Gonadotropin-Releasing Hormone , Hyperandrogenism , Polycystic Ovary Syndrome , Testosterone , Sex Differentiation
18.
Rev. bioét. (Impr.) ; 23(1): 70-79, Jan-Apr/2015.
Article in Portuguese | LILACS | ID: lil-752499

ABSTRACT

A intersexualidade é considerada um problema médico. A má-formação do genital pode impedir a definição do sexo ao nascer, o que exige cuidado por parte dos responsáveis pela criança. Como acontece no humano a definição do sexo? É importante a definição do sexo ao nascer ou pode-se deixá-la para mais tarde? Dependendo do referencial teórico, as intervenções, a condução e o tratamento podem acontecer de maneira diversa e contraditória. O presente trabalho faz um breve relato dos diversos modos de leitura realizados por diferentes campos do conhecimento sobre a intersexualidade e aborda o tema mediante a teoria psicanalítica.


The intersexuality is considered a medical problem. Genital malformation can impede the definition of gender at birth and requires special care on the part of those responsible for the child. How does sexual definition occur among humans? Is it important to define gender at birth, or can this be postponed? Depending on the theoretical framework, intervention, conduct and treatment can occur in diverse and contradictory ways. We briefly summarize the diferent interpretations of intersexuaity in different fields of knowledge, and addresses the theme through psychoanalytic theory.


La intersexualidad es considerada un problema médico. La malformación de los genitales puede impedir la definición del sexo al nacer, lo que requiere el cuidado de aquellos que son responsables por el niño. ¿Como ocurre la definición del sexo en el humano? ¿Es importante la definición del sexo en el nacimiento o se puede dejar para más tarde? En función del marco teórico, las intervenciones, la conducta y el tratamiento puede acontecer de manera diversa y contradictoria. El presente artículo ofrece una breve reseña de los distintos modos de lectura realizados por los diferentes campos de conocimiento acerca de la intersexualidad y aborda el tema mediante la teoría psicoanalítica.


Subject(s)
Humans , Male , Female , Psychoanalysis , Sex Characteristics , Sex Differentiation , Sexual and Gender Disorders , Sexuality/physiology , Adaptation, Psychological , Adrenal Hyperplasia, Congenital , Patient Care Team
19.
São Paulo; s.n; 2015. [109] p. tab, graf.
Thesis in Portuguese | LILACS | ID: biblio-870939

ABSTRACT

Introdução: As doenças crônicas que envolvem tratamento clínico e cirúrgico podem comprometer a qualidade de vida. Poucos estudos analisam a qualidade de vida de pacientes com distúrbios do desenvolvimento sexual (DDS). O objetivo foi avaliar a qualidade de vida de pacientes com DDS com o diagnostico etiológico estabelecido, seguidos até a idade adulta em um único centro terciário. Pacientes e Métodos: 144 pacientes adultos com DDS (56 pacientes com DDS 46,XX - 49 com sexo social feminino e 7 com o sexo social masculino, bem como, 88 pacientes com DDS 46,XY - 54 com sexo social feminino e 34 com sexo social masculino). Instrumento: A avaliação da qualidade de vida foi realizada através do questionário WHOQOL-Bref. Resultados: Os pacientes com DDS 46,XX e 46,XY apresentaram escores de qualidade de vida semelhante e comparáveis aos escores da população brasileira geral. Os pacientes com DDS do sexo social masculino tiveram melhores escores no domínio psicológico do que os pacientes do sexo social feminino, da mesma forma que a população geral brasileira. Dentro do grupo DDS 46,XY, também os pacientes com o sexo social masculino tiveram melhores escores de qualidade de vida em comparação aos do sexo social feminino. Para avaliar o impacto na qualidade de vida dos pacientes com DDS 46,XY criados no sexo social feminino, foi comparado os escores de qualidade de vida nos pacientes registrados no sexo social masculino com aqueles dos pacientes registrados no sexo social feminino e que mudaram para o sexo social masculino. Ambos os grupos apresentaram escores semelhantes de qualidade de vida. Comparou-se ainda, a qualidade de vida de pacientes com DDS 46,XY com deficiência de 5alfa-RD2 e pacientes com DDS, devido à defeitos na secreção ou ação da testosterona. Ambos os grupos apresentaram qualidade de vida semelhante entre si para as questões gerais e nos quatro domínios. A maioria das variáveis que influenciaram a qualidade de vida foram saúde geral,...


Objective: Chronic diseases involving medical and surgical treatment may compromise the quality of life. Few studies have focused on the quality of life of patients with disorders of sex development (DSD). The aim was to evaluate quality of life in DSD patients with defined diagnoses followed until adulthood in a single tertiary centre. Patients and Methods: 144 Adult DSD patients (56 patients with 46,XX DSD - 49 with female social sex and 7 with male social sex as well as 88 patients with 46,XY DSD - 54 with female social sex and 34 with male social sex). Measurements: Quality of life using WHOQOL-Bref questionnaire Results: Both 46,XX and 46,XY DSD patients had similar quality of life scores on the WHOQOL-Bref, comparable to the scores of the Brazilian general population. Male social sex DSD patients had better scores on the psychological domain than female social sex DSD patients, as found in the Brazilian general population. In addition, among the 46,XY DSD group, the male social sex patients had better quality of life compared to the female social sex patients. To estimate the impact on quality of life of patients with DDS 46, XY raised in females social sex, we analyzed the quality of life scores of patients raised with male social sex with those patients registered with female social sex who changed to male social sex. Both groups had similar quality of life. We also evaluate the impact of testosterone in the quality of life of patients with 46,XY DSD with 5alfa-RD2 deficiency and patients with DSD due to testosterone secretion or action defects. Both groups showed similar quality of life. The most influencing variables on quality of life of all group of patients were general health, positive feelings and spirituality, religion and personal beliefs, each of them contributing with 18% of the variability of the general quality of life score. There was a positive and significant correlation between sexual performance and general quality of life, although...


Subject(s)
Humans , Male , Female , Adult , Disorders of Sex Development , Gender Identity , Psychology , Psychology, Clinical , Quality of Life , Retrospective Studies , Sex Differentiation , Sexual Development , Sexual Behavior/psychology , Surveys and Questionnaires
20.
Article in English | WPRIM | ID: wpr-96136

ABSTRACT

Turner syndrome is the most common chromosomal disorder in girls. Various phenotypic features show depending upon karyotype from normal female through ambiguous genitalia to male. Usually, Turner girls containing 45,X/46,XY mosaicism, or sex-determining region Y (SRY) gene may have mixed gonadal dysgenesis with various external sexual differentiation. We experienced a short statured 45,X Turner girl with normal external genitalia. Because SRY gene was positive, laparoscopic gonadectomy was performed. The dysgenetic gonads revealed bilateral ovotesticular tissues. The authors report a mixed gonadal dysgenesis case found in clinical 45,X Turner patient with positive SRY gene. Screening for SRY gene should be done even the karyotype is 45,X monosomy and external genitalia is normal.


Subject(s)
Chromosome Disorders , Disorders of Sex Development , Female , Genes, sry , Genitalia , Gonadal Dysgenesis, Mixed , Gonads , Humans , Karyotype , Male , Mass Screening , Monosomy , Mosaicism , Sex Differentiation , Turner Syndrome
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