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1.
J. pediatr. (Rio J.) ; 96(5): 607-613, Set.-Dec. 2020. tab
Article in English | LILACS, ColecionaSUS, SES-SP | ID: biblio-1135058

ABSTRACT

Abstract Objective: To evaluate, in a sample of patients with disorders of sex development (DSD), data related to the age at referral and their correlation with the initial complaints, gender at referral, defined gender after diagnosis and etiological diagnosis. Methods: Retrospective review of the age at the first consultation and the reason for it, initial social gender and gender after the diagnosis, karyotype and etiological diagnosis of all cases treated at a DSD outpatient clinic between 1989 and 2016. Cases that did not involve DSD and DSD diagnoses that do not usually involve ambiguous genitalia, thus not requiring specialized monitoring, were excluded. Results: Of the 1793 treated cases, 1139 were diagnosed with some type of DSD. This study excluded 430 cases (272 with Turner's syndrome, 66 with Klinefelter syndrome, and 92 with pure gonadal dysgenesis), thus a total 709 individuals were included. Of these, 82.9% were referred due to ambiguous genitalia; only one-quarter were still in the first month of life, and 6.6% were referred due to pubertal delay, with most of them aged 10 years or older. Of these patients, 68.6% had a diagnosis of XY DSD, 22.4% of XX DSD, and 9% of sex chromosome abnormalities. Conclusions: This study presents the largest series in the literature of patients with DSD treated in a single center. The time of referral of the majority of patients with ambiguous genitalia fell short of the ideal, and milder cases of ambiguous genitalia and many with pubertal manifestations were referred even later. The results reinforce the importance of continuing education for professionals who will have the first contact with these patients, mainly pediatricians and neonatologists.


Resumo Objetivo: Avaliar em uma amostra de pacientes com distúrbios da diferenciação do sexo (DDS), dados relacionados à idade, ao encaminhamento e sua correlação com as queixas iniciais, ao sexo ao encaminhamento e ao sexo final e diagnóstico etiológico. Métodos: Revisão retrospectiva da idade por ocasião da primeira consulta e motivo dela, sexo social inicial e após definição do diagnóstico, cariótipo e diagnóstico etiológico de todos os casos atendidos em um ambulatório especializado em DDS entre 1989 e 2016. Foram excluídos casos que não compreendiam DDS e diagnósticos de DDS que não cursam comumente com ambiguidade genital, não necessitam de acompanhamento especializado. Resultados: Dos 1.793 casos atendidos, 1.139 foram diagnosticados com algum DDS. Excluíram-se 430 (272 síndrome de Turner, 66 síndrome de Klinefelter e 92 disgenesia gonadal pura), totalizando 709. Desses, 82,9% foram encaminhados por ambiguidade genital, somente um quarto ainda no primeiro mês de vida e 6,6% por atraso puberal, a maioria com 10 anos ou mais; 68,6% tiveram diagnóstico de DDS XY; 22,4% DDS XX e 9% de anomalias dos cromossomos sexuais. Conclusões: Este estudo apresenta a maior casuística na literatura de pacientes com DDS atendidos em um único serviço. O momento de encaminhamento da maioria dos pacientes com ambiguidade genital foi aquém do ideal e casos mais leves de ambiguidade e muitos com manifestações puberais foram encaminhados ainda mais tardiamente. Os resultados reforçam a importância do ensino continuado a profissionais que terão o primeiro contato com esses pacientes, principalmente pediatras e neonatologistas.


Subject(s)
Humans , Child , Disorders of Sex Development/diagnosis , Disorders of Sex Development/therapy , Retrospective Studies , Karyotype , Pediatricians
2.
Sex., salud soc. (Rio J.) ; (35): 283-307, maio-ago. 2020.
Article in Portuguese | LILACS | ID: biblio-1139641

ABSTRACT

Resumo As regulações esportivas para definir a elegibilidade na categoria feminina são políticas antigas, datadas do começo do século XX, que atravessam disputas sobre o corpo, suas inscrições e possibilidades de futuro. De modo que a definição de um diagnóstico, com suas articulações de saúde, doença e cuidado terapêutico, concentram alguns atributos significativos para essa determinação de elegibilidade. Acompanhando um pouco da história da ex-judoca brasileira Edinanci Silva, vamos compreender como tais regulações constituem estratégias normativas de controle do corpo e da população, assim como mobilizam os cenários em que os sujeitos existem, se individualizam e cuidam de si. Essa difícil tarefa de consentir num contexto de crise, de risco e de humilhação diz muito sobre os limites dessas mesmas inclusões pelo esporte. No fim, também vamos entender porque a virilização feminina continua a ser medicalizada e importa mais do que a eficiência do rendimento esportivo propriamente dito.


Abstract The sports regulations to define the eligibility in the female category are old policies, dating from the beginning of the 20th century, which go through disputes over the body, its inscriptions and possibilities for the future. In this sense, the definition of a diagnosis, with its articulations of health, disease and therapeutic care, concentrate some significant attributes for this eligibility. Following a bit of the history of former Brazilian judoka Edinanci Silva, we'll understand how such regulations constitute normative strategies for controlling the body, the population, as well as mobilizing the scenarios in which the subjects exist, individualize and take care of themselves. This difficult task of consenting in a context of crisis, risk and humiliation says a lot about the limits of these same inclusions by sport. In the end, we'll also understand why female virilization continues to be medicalized and matters more than the efficiency of sports performance itself.


Resumen La normativa deportiva para definir la elegibilidad en la categoría femenina son políticas antiguas, fecha del comienzo del siglo 20, que pasan por disputas sobre el cuerpo, sus inscripciones y posibilidades de futuro. De modo que la definición de un diagnóstico, con sus articulaciones de salud, enfermedad y atención terapéutica, concentre algunos atributos significativos para esta determinación de elegibilidad. Siguiendo un poco de la historia de la ex-judoca brasileña Edinanci Silva, entenderemos cómo estas regulaciones constituyen estrategias normativas para controlar el cuerpo y la población, así como movilizar los escenarios en que los sujetos existen, se individualizan y se cuidan. Esta difícil tarea de consentir en un contexto de crisis, riesgo y humillación dice mucho sobre los límites de estas mismas inclusiones para el deporte. Al final, también entenderemos por qué la virilización femenina sigue medicalizada y es más importante que la eficacia del rendimiento deportivo en sí.


Subject(s)
Humans , Female , Sex Determination Analysis , Disorders of Sex Development/diagnosis , Sports , Women , Athletes , Policy , Body Constitution , Sex Characteristics , Hyperandrogenism , Informed Consent
3.
Int. braz. j. urol ; 42(6): 1237-1243, Nov.-Dec. 2016. tab, graf
Article in English | LILACS | ID: biblio-828926

ABSTRACT

ABSTRACT Main findings: A typical male looking adolescent with a legal female gender assignment presented with haematuria. Investigations led to the diagnosis of Persistent Mullerian Duct Syndrome. The condition is indeed a rare entity that needs a multidisciplinary team management. Case hypothesis: A case of Persistent Mullerian Duct Syndrome undiagnosed at birth because karyotyping was defaulted, thus resulting in a significant impact on the legal gender assignment and psychosocial aspects. Promising future implications: The reporting of this case is important to create awareness due to its rarity coupled with the rare presentation with hematuria as a possible masquerade to menstruation. There were not only medical implications, but also psychosocial and legal connotations requiring a holistic multidisciplinary management.


Subject(s)
Humans , Male , Female , Adolescent , Disorders of Sex Development/diagnosis , Hydrocolpos/diagnosis , Disorder of Sex Development, 46,XY/diagnosis , Pelvis/diagnostic imaging , Disorders of Sex Development/diagnostic imaging , Hydrocolpos/diagnostic imaging , Disorder of Sex Development, 46,XY/diagnostic imaging , Abdomen/diagnostic imaging
4.
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
5.
Rev. cuba. pediatr ; 86(3): 381-389, jul.-set. 2014. ilus
Article in Spanish | LILACS, CUMED | ID: lil-725124

ABSTRACT

El déficit de 21-hidroxilasa es la forma más frecuente de hiperplasia adrenal congénita, que forma parte de los desórdenes de la diferenciación sexual. Se presentan 3 casos. El primero, un recién nacido de 19 días que es llevado a consulta por presentar desórdenes de los genitales externos. Al examen físico presentaba un clítoris aumentado de tamaño, con orificio uretral en su base y engrosamiento de los rodetes labioescrotales. El diagnóstico se realizó por ultrasonido ginecológico, cromatina sexual, estudios hormonales y cariotipo. El segundo caso, un recién nacido de 15 días que también es llevado a consulta por desórdenes de los genitales externos, con examen físico similar al primer caso, y se le realizaron los mismos complementarios para su diagnóstico. El tercer caso, un lactante de 2 meses de edad, que es llevado a consulta por igual motivo, y que al examen físico se encontró hiperplasia del clítoris, con orificio en su base, y engrosamiento de los labios mayores que estaban fusionados en la línea media. Se le indicaron iguales complementarios. Se diagnosticó en los 3 casos una hiperplasia adrenal virilizante, y se realizó tratamiento sustitutivo hormonal y cirugía reconstructiva de los genitales externos.


Steroid 21-hydroxylase is the most frequent form of congenital adrenal hyperplasia that is part of the sexual differentiation disorders. This article reported 3 cases. The first one was a 19 days-old infant who was taken to the doctor´s because of external genitalia disorders. The physical exam revealed augmented clitoris with urethral orifice in its basis and thickening of the labioscrotal swellings. The patient was diagnosed by means of gynecological ultrasound, sexual chromatin, hormonal studies and karyotype. The second case was a 15 days-old newborn, who was also taken to the doctor´s for external genitalia disorders. The physical exam was similar to that of the first case and the same complementary tests were performed for diagnosis. The third case was a 2 months-old infant who was taken to the medical service for the same reasons, and his physical exam showed clitoris hyperplasia, orifice in its base and thickening of labia majora that fused in the midline. The same complementary tests were indicated. The final diagnosis in these three cases was virilizing adrenal hyperplasia. They were all treated with hormone replacement therapy and reconstructive surgery of their external genitalia.


Subject(s)
Humans , Disorders of Sex Development/diagnosis , Adrenal Hyperplasia, Congenital , Adrenal Hyperplasia, Congenital/diagnosis , Case Reports
6.
JCPSP-Journal of the College of Physicians and Surgeons Pakistan. 2014; 24 (10): 714-718
in English | IMEMR | ID: emr-149776

ABSTRACT

To do clinical, hormonal and chromosomal analysis in undervirilized male / XY disorder of sex development and to make presumptive etiological diagnosis according to the new Disorder of Sex Development [DSD] classification system. Case series. Endocrine Unit at National Institute of Child Health, Karachi, Pakistan, from January 2007 to December 2012. Patients of suspected XY DSD / undervirilized male visiting endocrine clinic were enrolled in the study. Criteria suggested XY DSD include overt genital ambiguity, apparent female/male genitalia with inguinal/labial mass, apparent male genitalia with unilateral or bilateral non-palpable testes, micropenis and isolated hypospadias or with undescended testis. The older children who had delayed puberty were also evaluated with respect to DSD. As a part of evaluation of XY DSD, abdominopelvic ultrasound, karyotype, hormone measurement [testosterone, FSH, LH], FISH analysis with SRY probing, genitogram, laparoscopy, gonadal biopsy and HCG stimulation test were performed. Frequencies and percentages applied on categorical data whereas mean, median, standard deviation were calculated for continuous data. A total of 187 patients met the criteria of XY DSD. Age ranged from 1 month to 15 years, 55 [29.4%] presented in infancy, 104 [55.6%] between 1 and 10 years and 28 [15%] older than 10 years. Twenty five [13.4%] were raised as female and 162 as [86.6%] male. The main complaints were ambiguous genitalia, unilateral cryptorchidism, bilateral cryptorchidism, micropenis, delayed puberty, hypospadias, female like genitalia with gonads, inguinal mass. The karyotype was 46 XY in 183 [97.9%], 46 XX in 2 [1.1%], 47 XXY in 1 [0.5%], 45 X/46 XY in 1 [0.5%] patient. HCG stimulation test showed low testosterone response in 43 [23%], high testosterone response in 62 [33.2%], partial testosterone response in 32 [17.1%] and normal testosterone response in 50 [26.7%]. Genitogram was carried out in 86 [45.98%] patients. Presumptive etiological diagnosis of androgen sensitivity syndrome/ 5-alpha reductase deficiency, testicular biosynthetic defect/ leydig cell hypoplasia, partial gonadal dysgenesis, ovotesticular DSD, XX testicular DSD, mixed gonadal dysgenesis, testicular vanishing syndrome, klinefelter syndrome, hypogonadotropic hypogonadism, isolated hypospadias and isolated micropenis was made. Clinical, chromosomal and hormonal assessment may help in making the presumptive etiological diagnosis. Further molecular genetics analysis are needed in differentiating these abnormalities and to make a final diagnosis


Subject(s)
Humans , Male , Female , Disorders of Sex Development/diagnosis , Disorder of Sex Development, 46,XY/etiology , Disorders of Sex Development/etiology , Chorionic Gonadotropin , Testosterone
7.
Indian J Med Ethics ; 2013 Jan-Mar ; 10 (1): 49-51
Article in English | IMSEAR | ID: sea-153551

ABSTRACT

Lay people often wonder at all the fuss about identifying the biological sex of an individual. They may recall a granny or midwife, immediately after a delivery, even in the dim light, declaring with ease that it’s a girl, or a boy, to the rejoicing crowd waiting eagerly outside the delivery room. When it is so simple, why are doctors, sports administrators and investigators making such a hue and cry about this? How do you identify the biological sex of an individual? What is this fuss about sex verification tests? Are they the same as gender verification tests? What are the ethical, legal and social aspects of these sex verification tests? I will try to answer some of these questions.


Subject(s)
Disorders of Sex Development/diagnosis , Humans , India , Mandatory Testing/legislation & jurisprudence , Patient Rights/legislation & jurisprudence , Sex Determination Analysis/methods , Sports , Women's Rights
8.
J. pediatr. (Rio J.) ; 88(6): 489-495, nov.-dez. 2012. tab
Article in Portuguese | LILACS | ID: lil-662542

ABSTRACT

OBJETIVOS: Avaliar a prevalência e descrever alterações da morfologia genital em recém-nascidos em duas maternidades-escola de gestão pública. MÉTODOS: Estudo caso/controle, descritivo, transversal. Utilizou-se protocolo clínico para avaliação da morfologia genital de 2.916 recém-nascidos entre 19/04/2010 e 18/04/2011. O grupo controle foi formado pelos nascimentos sem anormalidades morfológicas ocorridos no dia e na maternidade em que o caso foi detectado. Teste exato de Fisher foi utilizado para análises de variáveis categóricas, e de Kruskal-Wallis, para igualdade de médias. RESULTADOS: Foram detectados 29 recém-nascidos com anormalidade genital (1:100). A maioria (93,2%) foi examinada nos três primeiros dias de vida e apresentava apenas uma anormalidade. Os defeitos morfológicos compreenderam: ambiguidade genital evidente (1/29), fusão posterior de grandes lábios (1/29), micropênis (2/29), clitoromegalia (6/29), criptorquidia bilateral (6/29), hipospádia (9/29) e defeitos combinados (4/29) casos. Em apenas um caso os campos da Declaração de Nascido Vivo foram preenchidos corretamente. Prematuridade foi observada em 13/29, sendo esta a única variável estatisticamente associada à presença de anormalidade genital. Oito casos aderiram à proposta de investigação complementar, entre os quais três tiveram diagnóstico clínico de distúrbio da diferenciação do sexo. CONCLUSÕES: Evidenciou-se alta prevalência, subdiagnóstico e sub-registro de defeitos genitais nas maternidades estudadas. Os resultados reforçam a importância do exame cuidadoso de recém-nascidos com o objetivo de identificar anormalidades genitais sutis que podem compor o quadro clínico de distúrbio da diferenciação do sexo.


OBJECTIVES: To assess the prevalence of genital abnormalities among neonates in two public maternity-schools. METHODS: Case-control, cross-sectional descriptive study. Genital morphology of 2,916 neonates was assessed using a clinical protocol between 04/19/2010 and 04/18/2011. Control group included neonates without birth defects, born at the same maternity unit and in the same day in which a case was identified. Fisher and Kruskal-Wallis tests were used for statistics. RESULTS: The study identified 29 (1:100) neonates with genital abnormalities. Most of them were examined within 3 days of life and presented only one genital defect. Morphological abnormalities comprised: genital ambiguity (1/29), fusion of labia majora (1/29), micropenis (2/29), enlarged clitoris (6/29), hypospadia (9/29), and combined defects (4/29). Only one case reported the genital abnormality in the statement of live birth correctly. Prematurity occurred in 13/29 cases and was the only variable statistically associated with genital defects. Eight cases agreed on the complementary investigation of the genital defect, among which three were diagnosed with disorder of sex development. CONCLUSIONS: There is a high prevalence of genital abnormalities in the maternity units included in the present study and most cases are under-diagnosed and under-reported. Our results reinforce the importance of a careful examination of genital morphology in neonatal period towards the recognition of minor defects that can be clinical features of a disorder of sex development.


Subject(s)
Female , Humans , Infant, Newborn , Male , Disorders of Sex Development/epidemiology , Neonatal Screening , Brazil/epidemiology , Case-Control Studies , Disorders of Sex Development/diagnosis , Hypospadias/epidemiology , Prevalence
9.
Rev. cuba. endocrinol ; 21(3): 307-322, sep.-dic. 2010.
Article in Spanish | LILACS, CUMED | ID: lil-584456

ABSTRACT

El enfoque y tratamiento clínicos de la intersexualidad es un campo complejo y profundo, es además un terreno caracterizado por debates y polémicas en el que aún hay aspectos por dilucidar relativos al paradigma actual de atención de salud. La prescripción de terapias quirúrgicas y hormonales desde etapas tempranas de la vida está pautada, por lo que adquieren especial relevancia las experiencias y vivencias con los servicios de salud. Objetivos: describir la experiencia de personas diagnosticadas con trastornos del desarrollo sexual en los servicios de salud, y desde su perspectiva, caracterizar la relación médico-paciente y el modelo de atención de salud. Metodos: estudio exploratorio que utiliza como metodología cualitativa la entrevista en profundidad. Participaron 20 personas con el diagnóstico ya mencionado. Se realizó el análisis correspondiente de la técnica utilizada, y culminó con la triangulación de la información de bibliografía actualizada y análisis multidisciplinario. Los aspectos éticos fueron bien establecidos y aplicados. Alrededor de la mitad de los sujetos abandonaron los servicios de salud por decepción y desesperanza. Fueron identificadas iatrogenias en la gestión médica y paramédica. El proceso de medicalización se expresó en el discurso y en los procedimientos e intervenciones médicas implementadas. La relación médico-paciente fue muy importante en la vida de una mayoría, sin embargo la naturaleza de la relación fue vertical y unidireccional, caracterizada por el secreto médico y parental. Las vivencias de alienación se relacionaron con el rol desempeñado en el espacio institucional y con el desequilibrio de poder en la relación con el proveedor de salud. CONCLUSIONES: existen deficiencias en el modelo de atención. Se hallaron brechas entre los servicios ofrecidos y las necesidades y expectativas personales de atención de salud. El algoritmo que pauta la conducta a seguir no ha logrado la atención integral por el equipo interdisciplinario, ni el acompañamiento psicológico a la familia desde los primeros momentos del diagnóstico. Un nuevo paradigma de atención de salud debe ser privilegiado(AU)


The approach and clinical treatments of intersexuality is a complex and deep subject, it is also a field characterized by debates and controversies where still there are features to be elucidate in relation to current paradigm of health care. The prescription of surgical and hormonal therapies from early stages of life is regulated acquiring special relevance the experiences and situations related to the health services. Objetives: to describe the experiences of persons diagnosed with sexual development disorders in health services and from their perspective, to characterize the relation physician-patient and the health care form. Methods: present study uses as qualitative methodology the interview intimately and included 20 persons with the abovementioned diagnosis. The corresponding analysis of the technique used was carried out finishing with the triangulation of updated bibliography information and a multidisciplinary analysis. Ethical features were well established and applied. Results: Around the half of subjects gave up the health services due to disappointment and hopelessness. In medical and paramedical actions a iatrogenesis was identified. The medicine process was expressed in the speech and in the applied medical procedures and interventions. The relation physician-patient was very significant in the life of many persons, however, the relation nature was vertical and unidirectional, characterized by the medical and family secret. The alienation experiences were related to the role played in the institutional environment and to the power lack of balance in the relation with the health provider. Conclusions: there are deficiencies in care form and breaches among the services offered and the personal needs and expectations of health care. The algorithm giving guidelines for the behavior to follow neither has achieve the integral attention for the interdisciplinary team nor the psychological support to family from the firsts moments of diagnosis. A new health care paradigm must to be exceptional(AU)


Subject(s)
Humans , Professional-Patient Relations/ethics , Disorders of Sex Development/diagnosis , Health Services/standards , Sexual Development , Professional-Family Relations , Exploratory Behavior/ethics
13.
Indian J Pediatr ; 2009 Sept; 76(9): 956-958
Article in English | IMSEAR | ID: sea-142381

ABSTRACT

The management of disorders of sexual differentiation (DSD) involves a multidisciplinary approach. The main aim of analysis was to study the phenotype-karyotype correlation in North Indian children with DSD. The records of pediatric DSD were retrieved and characteristics noted. Of total of 58 children, 43 (74.1%) and 10 (17.2%) were raised as males and females respectively. The mean age at presentation was 31.3±9 months. The karyotype was 46XY in 45 (77.6%) and 46XX in 12 (20.7%). CAH was commonest cause of DSD (36.2%), followed by gonadal dysgenesis. Of the 15 patients of 46 XY CAH, there were 5 with 17-α hydroxylase deficiency, 2 with 3-β HSD deficiency and one case of lipoid adrenal hyperplasia. There was an excess of genetic males, possibly due to prevalent socio-cultural factors and gender bias favoring males. There is a need to improve the diagnostic facilities and incorporate a team approach in management of DSD.


Subject(s)
Chi-Square Distribution , Child, Preschool , Disorders of Sex Development/diagnosis , Disorders of Sex Development/epidemiology , Female , Humans , India/epidemiology , Infant , Karyotyping , Male , Phenotype
14.
J Indian Med Assoc ; 2007 Sep; 105(9): 528, 530
Article in English | IMSEAR | ID: sea-103960

ABSTRACT

Absence of antimuellerian hormone or defective functioning of antimullerian hormone type II receptors give rise to a type of male pseudohermaphroditism known as 'persistent muellerian duct syndrome'. Such patients are phenotypically male with 46 XY karyotype and well developed muellerian duct derivatives which may be intra-abdominal or may herniate in inguinal region giving rise to a condition called as 'hernia uterine inguinale'. Cryptorchidism, transverse testicular ectopia and hypospadias are few anomalies associated with this syndrome. Though orchidopexy while leaving the uterus and fallopian tube in situ is an accepted surgical management, compromisation of blood surply to the testes or the vas may occur as vasa efferentia are embedded in the wall of uterus.


Subject(s)
Adult , Hernia, Inguinal/diagnosis , Humans , Male , Disorders of Sex Development/diagnosis
15.
West Indian med. j ; 55(6): 430-433, Dec. 2006.
Article in English | LILACS | ID: lil-472066

ABSTRACT

True hermaphroditism is a rare intersex disorder in which individuals possess both testicular and ovarian gonadal tissue. A case of true unilateral hermaphroditism presenting with ambiguous external genitalia, right scrotal testis and left pelvic ovotestis is herein outlined Phallic, gonadal and genetic factors were considered before male gender was assigned. Gender assignment procedures have been questioned by intersex activists opposed to early genital surgery. Western societies have a binary perspective on gender and this leads to a stigma being placed on intersex cases. A multidisciplinary approach to this problem involving paediatric specialists in the field, of endocrinology, surgery and psychiatry is necessary, along with educational programmes that promote tolerance in society to variations in gender.


Subject(s)
Humans , Male , Female , Gender Identity , Disorders of Sex Development/diagnosis , Identification, Psychological , Genitalia, Female/anatomy & histology , Genitalia, Male/anatomy & histology , Disorders of Sex Development/genetics , Disorders of Sex Development/pathology , Infant, Newborn
16.
Indian Pediatr ; 2006 Nov; 43(11): 974-9
Article in English | IMSEAR | ID: sea-7095

ABSTRACT

One hundred nine patients presenting with ambiguous genitalia over the past 10 years (year 1995 to 2004) to Pediatric Endocrine Service of our hospital were reviewed. On the basis of clinical and investigative evaluation like hormonal and biochemical estimations, imaging studies, karyotype and invasive techniques like genitoscopy, laproscopy, open exploration and biopsy of gonads when indicated, these cases could be categorised as Genetic females with virilisation or FPH (n = 30 cases, 27.5 % Genetic males undervirilised or MPH (n = 57 cases, 52.3 %), Disorders of gonadal differentiation (n = 11, 10.1 %) Nine patients with gonadal dysgenesis and 2 with true hermaphroditism and the syndromic form of ambiguous genitalia (n = 2, 1.8 %). Congenital adrenal hyperplasia (CAH) was the underlying cause in all cases of FPH, the salt wasting form in 23/30 and simple virilising form in 7. Major categories in MPH group were Androgen insensitivity syndrome in 28 % (16/57) and 5a reductase deficiency in 23% (13/57).


Subject(s)
Adrenal Hyperplasia, Congenital/complications , Child , Child, Preschool , Female , Humans , India , Infant, Newborn , Male , Disorders of Sex Development/diagnosis , Retrospective Studies , Disorders of Sex Development/diagnosis
17.
Rev. argent. radiol ; 70(1): 59-66, ene.-mar. 2006. ilus, graf
Article in Spanish | LILACS | ID: lil-534300

ABSTRACT

Los pacientes con genitales ambiguos presentan dificultades diagnósticas y constituyen una emergencia médica. Su estudio apropiado y precoz minimiza las complicaciones médicas, psicológicas y sociales del niño y su familia. El objetivo de este estudio es mostrar la utilidad de la genitografía, accesible y de bajo costo, luego de la evaluación clínica y ultrasonografica. Mostramos la experiencia en 93 pacientes seguidos en nuestra institución durante 17 años. Los síndromes más comunes encontrados fueron: Hierplasia suprarrenales Congénitas, Hermafroditismo Verdadero, Feminización Testicular y Disgenesia gonadal. La genitografía detecta con seguridad el nivel de implantación de la cavidad vaginal en la uretra siendo esencial para elegir la estrategia terapéutica. Utilizamos una nueva clasificación, en 3 tipos, de seno urogenital de acuerdo a la genitografía.


Subject(s)
Humans , Gonadal Dysgenesis , Disorders of Sex Development/diagnosis , Disorders of Sex Development/etiology , Disorders of Sex Development/diagnosis , Urogenital Abnormalities , Diagnosis, Differential , Diagnostic Imaging
19.
Arq. bras. endocrinol. metab ; 49(1): 79-82, jan.-fev. 2005. tab
Article in Portuguese | LILACS | ID: lil-399048

ABSTRACT

São apresentados três pacientes com a condição clínica conhecida como "homem XX", rara na faixa etária pediátrica, caracterizada por um fenótipo masculino (em geral não associado a ambigüidade genital), testículos, porém cariótipo 46,XX. O diagnóstico costuma ser feito no adulto devido à esterilidade; na faixa etária pediátrica, ele é feito nos casos com ambigüidade genital ou ginecomastia. Na maioria dos pacientes é detectado o gene SRY (Sex-determining Region of the Y chromosome), o que explica a diferenciação testicular, porém em 20 por cento dos casos ele está ausente, o que torna evidente que a determinação gonadal é um processo dependente de múltiplos genes e fatores de transcrição. O diagnóstico de apenas 3 casos em dois serviços de referência num período de quase 30 anos indica sua raridade entre os casos de anomalias da diferenciação sexual.


Subject(s)
Adolescent , Humans , Infant , Male , Chromosomes, Human, X , Disorders of Sex Development , Karyotyping , Phenotype , Disorders of Sex Development/diagnosis , Disorders of Sex Development/genetics
20.
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