Malformación genital: disparador del diagnóstico de variantes severas de síndrome de Klinefelter / Genital malformation: trigger of the diagnosis of severe variants of Klinefelter syndrome

Resumen: Introducción: El síndrome de Klinefelter y sus variantes, como alteración en el número de cromosomas sexuales, se encuentra entre los trastornos del desarrollo sexual. Sus portadores manifiestan hipogonadismo hipergonadotrófico en la pubertad; las variantes severas presentan además problemas neurocognitivos y del lenguaje desde edades tempranas. Objetivo: Describir dos pacientes portadores de mal formación genital con diagnóstico genético de variantes severas de síndrome de Klinefelter; y revisar aspectos clínicos y terapéuticos. Casos Clínicos: Caso 1: Diagnóstico de genitales atípicos al nacer: Falo pequeño y corvo con meato uretral a nivel escrotal y escroto bífido. Sin otra anomalía somática, excepto sutil clinodactilia del 5 dedo. Cariotipo: 49,XXXXY. Al año de vida se reconstruyeron los genitales. Evolucionó con retraso global del desarrollo, principalmente del lenguaje, manejado con estimulación temprana kinésica y fonoaudiológica desde los 2 meses, logró integrarse en un jardín de infantes. Caso 2: Al mes de vida se constató falo pequeño y corvo severo (más de 70°), testículos en bolsa. Cariotipo: 48,XXYY. Al año de vida se corrigió malformación del pene. Evolucionó con retraso global del desarrollo, fundamentalmente en el lenguaje expresivo, y fue manejado con el equipo de estimulación temprana desde los 4 meses, logrando adaptación en un jardín de infantes. Conclusión: Las malformaciones genitales condujeron al diagnóstico de variantes severas de síndrome de Klin efelter, y fueron corregidas alrededor del año de vida. La identificación temprana de estas variantes permitió la intervención del equipo de neuroestimulación, favoreciendo el desarrollo neurocognitivo y la integración social de estos niños.

Abstract: Introduction: Among the disorders of sexual development, Klinefelter syndrome and its variants are classified as an alteration in the number of sex chromosomes. These patients show signs of hypergonadotropic hypogonadism at puberty, however cases of severe variants also present neurocognitive and language problems from an early age. Objective: To describe two patients with genital malformation with genetic diagnosis of severe variants of Klinefelter syndrome, and to review clinical and therapeutic aspects. Clinical Cases: Case 1: Diagnosis of atypical genitalia at birth: Small and curved phallus with the urethral meatus at scrotal level, and bifid scrotum. No other somatic abnormality was observed, except for subtle clinodactyly of the fifth finger. Karyotype: 49, XXXXY. At one year of life, genitalia were reconstructed. The patient presented a global developmental delay, mainly in language, which was managed with early stimulation and speech and language therapy since he was two months old. Finally, he was able to attend kindergarten. Case 2: At one month of life, a small and severe curved phallus (more than 70°) was observed, and testicles were in the scrotum. Karyotype: 48, XXYY. At one year of life, the penile malformation was corrected. The patient presented global developmental delay, mainly in expressive language which was managed with early stimulation since the age of four months, achieving kindergarten attendance. Conclusion: Genital malformations led to the diagno sis of severe variants of Klinefelter syndrome, and were corrected around the year of life. The early identification of these variants allowed the intervention of the neurostimulation team, favoring the neurocognitive development and social integration of these children.

O impacto da intervenção fisioterapêutica sobre o desempenho motor e equilíbrio de uma criança com diagnóstico de síndrome do pterígio poplíteo: estudo de caso / The impact of physical therapy intervention on motor performance and balance of a child diagnosed with popliteal pterygium syndrome: case report

A síndrome do pterígio poplíteo (SPP) é uma doença congênita rara cujo tratamento fisioterapêutico visa independência funcional. O objetivo deste estudo foi verificar o efeito de um plano fisioterapêutico sobre a amplitude de movimento, o desempenho motor e o equilíbrio de uma criança com SPP. Menina de 4 anos realizou um programa interventivo com 20 sessões de fisioterapia de 40 minutos cada, uma vez por semana. Para avaliação dos resultados do programa, foram utilizados a Escala de Desenvolvimento Motor, a Escala de Equilíbrio Pediátrica e o Teste de Goniometria Manual. Ao término do período interventivo, e após 1 mês, a criança foi reavaliada, constando-se incrementos no desempenho motor, no equilíbrio e na amplitude de movimento, principalmente na extensão de joelhos. Demais ganhos podem não ter sido alcançados devido à adaptação prévia da criança à sua condição. Os resultados apresentados evidenciam a contribuição da fisioterapia para a melhora da independência funcional e da qualidade de vida do paciente com SPP (AU)

Popliteal pterygium syndrome (PPS) is a rare congenital disease whose physical therapy (PT) treatment aims at functional independence. The objective of this study was to investigate the effect of a PT plan on range of motion, motor performance, and balance of a child with PPS. A 4-year-old girl underwent an interventional program with 20 PT sessions of 40 minutes each, once a week. The Motor Development Scale, the Pediatric Balance Scale, and the Manual Goniometry Test were used to evaluate the results of the program. At the end of the intervention period, and after 1 month, the child was reassessed, showing increases in motor performance, balance, and range of motion, especially in knee extension. Other gains may not have been achieved due to the child's prior adjustment to her condition. The results presented here emphasize the contribution of PT to the improvement of the functional independence and quality of life of patients with PPS (AU)

Profile of patients with genitourinary anomalies treated in a clinical genetics service in the Brazilian unified health system / Perfil de pacientes com anormalidades geniturinárias atendidos em serviço de genética clínica no sistema único de saúde

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.

Hiperplasia adrenal congénita por déficit de 21 hidroxilasa: un reto diagnóstico y terapéutico / Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a therapeutic and diagnosis challenge

La hiperplasia adrenal congénita es un conjunto de anomalías con herencia autosómica recesiva por el déficit de una de las cinco enzimas necesarias para la síntesis de cortisol en la corteza adrenal. La causa más frecuente es la deficiencia de 21 hidroxilasa, que explica más del 95% de los casos. La presentación es heterogénea y depende de cuán afectada está la función enzimática y el sexo del paciente. Se clasifica en una variante no clásica y clásica, esta se subclasifica en una forma con pérdidas salinas y virilizante simple. El tratamiento se fundamenta en el uso de glucocorticoides y mineralocorticoides, con un seguimiento estricto para minimizar las reacciones adversas.Objetivo: Revisión descriptiva sobre el estado del arte de la hiperplasia adrenal congénita.Materiales y métodosRevisión no sistemática de la literatura mediante los buscadores Medline, PubMed, LILACS y la herramienta Clinical Key de publicaciones en los últimos diez años. Se usaron las palabas: hiperplasia adrenal congénita, déficit de 21 hidroxilasa y ambigüedad sexual.Discusión y conclusión: Como es una enfermedad de gran variabilidad en la presentación clínica y las características paraclínicas, es necesario que los profesionales de la salud tengan amplio conocimiento en cuanto a su forma de presentación, diagnóstico y manejo en situaciones especiales (crisis adrenal, dosis de estrés, embarazo), además de realizar seguimiento regular e intervenciones tempranas con el fin de mermar las consecuencias deletéreas, derivadas del tratamiento con corticoides en forma crónica.

Congenital adrenal hyperplasia is a group of autosomal recessive anomalies caused by a deficiency of one of the five enzymes required for the synthesis of cortisol in the adrenal cortex. The most common cause is 21-hydroxylase deficiency, which accounts for over 95% of cases. The presentation is heterogeneous and depends on how much the enzymatic function is affected, and sex of the patient. It is classified as a non-classical and classical variant, which is sub-classified into simple virilising and salt loss. The treatment is based on the use of mineralocorticoids and glucocorticoids, with close monitoring to minimise adverse reactions.Objective: To present a descriptive review of the state of art of congenital adrenal hyperplasia.Materials and methods: A non-systematic review of publications in the literature over the past ten years using the Medline, PubMed, LILACS and Clinical Key. The search words used were: congenital adrenal hyperplasia, 21-hydroxylase deficiency, and sexual ambiguity.Discussion and conclusion: Congenital adrenal hyperplasia is a disease of great variability in clinical presentation and para-clinical characteristics. Health professionals should have extensive knowledge in its presentation, diagnosis, and management in special situations (adrenal crisis, stress dose, pregnancy). It also requires regular monitoring and early interventions in order to reduce the deleterious consequences arising from continuous treatment with corticosteroids.

Hiperplasia adrenal congênita / Congenital adrenal hyperplasia

A hiperplasia adrenal congênita (HAC) é um grupo de doenças de transmissão autossômica recessiva, em que os defeitos enzimáticos levam à síntese deficiente do cortisol e excesso de androgênios adrenais. A deficiência da 21?-hidroxilase é a forma mais frequente. Na HAC clássica o excesso de androgênios resulta em virilização e desenvolvimento de genitália ambígua no recém-nascido do sexo feminino e, quando não diagnosticada, alta mortalidade no sexo masculino. É necessário um diagnóstico preciso e urgência no início do tratamento para prevenir a mortalidade e as morbidades que acompanham esta doença. Os autores apresentam de forma prática e concisa como diagnosticar, tratar e prevenir complicações.

Genitales ambiguos: hipospadia severa: presentación de un caso / Ambiguous genitals: severe hypospadias: a case presentation

La hipospadia es un trastorno congénito, más común en individuos del sexo masculino, con una incidencia de 5 a 8 por mil nacidos vivos; en algunos casos la anatomía genital impide definir el sexo por lo que es necesario recurrir a diversos estudios para poder asignar el mismo. Se presenta el caso de un recién nacido que nace con bolsas escrotales a ambos lados del pene y este último es pequeño, incurvado y la uretra desemboca a nivel del escroto semejando una vagina. Se le realizan ultrasonido gonadal, cariotipo, cromatina sexual y otros exámenes; se diagnostica como una hipospadia penescrotal sin otras malformaciones asociadas.

Hypospadias is one congenital disorders of males with an incidence of 5 to 8 per thousand live births; in some cases genital anatomy prevent sex define what is necessary to use various studies to assign it. A case of a newborn is carried out, who was born with scrotal bags on both sides of the penis and the latter is small, curved and the urethra flows in the scrotum resembling a vagina. Gonadal ultrasound, karyotype, sexual chromatin and other tests was carried out, it is diagnosed as penescrotal hypospadias without other associated malformations.

Clinical and genetic findings of five patients with WT1-related disorders / Achados clínicos e genéticos de cinco pacientes com anomalias relacionadas ao gene WT1

AIM: To present phenotypic variability of WT1-related disorders. METHODS: Description of clinical and genetic features of five 46,XY patients with WT1 anomalies. RESULTS: Patient 1: newborn with genital ambiguity; he developed Wilms tumor (WT) and chronic renal disease and died at the age of 10 months; the heterozygous 1186G>A mutation compatible with Denys-Drash syndrome was detected in this child. Patients 2 and 3: adolescents with chronic renal disease, primary amenorrhea and hypergonadotrophic hypogonadism; patient 2 had a gonadoblastoma. The heterozygous IVS9+4, C>T mutation, compatible with Frasier syndrome was detected. Patient 4: 9-year-old boy with aniridia, genital ambiguity, dysmorphisms and mental deficiency; a heterozygous 11p deletion, compatible with WAGR syndrome was detected. Patient 5: 2 months old, same diagnosis of patient 4; he developed WT at the age of 8 months. CONCLUSIONS: Constitutional abnormalities of WT1 cause gonadal and renal anomalies and predisposition to neoplasia and must be investigated in patients with ambiguous genitalia, chronic renal disease and(or) Wilms tumors; primary amenorrhea with chronic renal disease; and aniridia, genital ambiguity and dysmorphisms.

OBJETIVO: Descrever a variabilidade fenotípica das anomalias relacionadas ao WT1. MÉTODOS: Descrição das características clínicas e genéticas de cinco pacientes 46,XY com anomalias no WT1. RESULTADOS: Paciente 1: Recém-nascido com ambigüidade genital desenvolveu tumor de Wilms (TW) e insuficiência renal crônica (IRC), com óbito aos 10 meses. Detectada a mutação 1186G>A em heterozigose, compatível com síndrome de Denys-Drash. Pacientes 2 e 3: Adolescentes com IRC, amenorréia primária e hipogonadismo hipergonadotrófico; a paciente 2 apresentava gonadoblastoma. Ambas apresentavam mutação IVS9+4, C>T em heterozigose, característica da síndrome de Frasier. Paciente 4: Idade 9 anos, aniridia, ambigüidade genital, dismorfismos e deficiência mental; deleção 11p, compatível com síndrome WAGR foi encontrada em heterozigose. Paciente 5: Dois meses, mesmo diagnóstico do paciente 4, desenvolveu TW aos 8 meses. CONCLUSÕES: Alterações constitucionais do WT1 determinam anomalias gonadais, renais e predisposição a neoplasias; devem ser pesquisadas em casos de ambigüidade genital associada a IRC e(ou) TW; de amenorréia primária com IRC; e aniridia, ambigüidade genital e dismorfismos.

Occurrence of congential anomalies and genetic diseases in a population of Ghazvin Province, Iran: a study of 33380 cases

The purpose of this study was to determine the incidence of congenital and genetic anomalies in two major referral hospitals and medical Genetic center in a population of Ghazvin Province. A cross sectional study was performed between 2000- 2004 on 33380 children from infancy to age 8 years. The precise and confirmed diagnosis of genetic and congenital anomalies was elaborated by reviewing pedigree of family population screening, genetic records of family data, routine tests such as application of molecular and karyotype and other essential information have been approached. In total, the more frequent malformation associated congenital anomalies among our patients was inborn error of metabolism [7.18%] followed by disorder of congenital hearth defects [6%]. We suggest a possible role of various factors such as different geographical may influence dissimilarities between present study and other population. Also the necessity of particular attention and emphasize on special screening program that helps to identify early stages of genetic and congenital malformation. These results together provide information to physicians and genetic counselors to realize contribution of congenital abnormalities and setting priorities of screening individual cases

O pediatra frente a uma criança com ambigüidade genital: [revisão] / The role of the pediatrician in the management of children with genital ambiguities: [review]

OBJETIVO: Apresentar os critérios diagnósticos de ambigüidade genital, a conduta médica inicial e a postura esperada do pediatra. FONTES DOS DADOS: Revisão de literatura científica por meio de artigos publicados no MEDLINE nos idiomas inglês e português, no período de 1990 a 2007 e na faixa etária pediátrica. SÍNTESE DOS DADOS: O pediatra tem papel fundamental na avaliação da ambigüidade genital, cujo objetivo é obter diagnóstico etiológico preciso no menor tempo possível para definição do sexo e estabelecimento dos procedimentos terapêuticos. Há critérios diagnósticos específicos, porém, de modo geral, uma genitália é ambígua sempre que houver dificuldade para se atribuir o sexo à criança. O pediatra deve informar à família que a definição do sexo dependerá de investigação laboratorial minuciosa, feita preferencialmente por equipe interdisciplinar em serviço terciário. O cariótipo 46,XX ou 46,XY não é suficiente para definir o sexo de criação, porém esse exame é fundamental para direcionar a investigação. Quando não houver gônadas palpáveis, a primeira hipótese deve ser hiperplasia adrenal congênita. Entre as outras causas, estão insensibilidade parcial a andrógenos, deficiência da enzima 5alfa-redutase, disgenesia gonadal parcial e hermafroditismo. A família deve receber apoio e informações durante todo o processo de avaliação, e sua participação é fundamental na decisão sobre o sexo de criação. CONCLUSÕES: Embora casos de ambigüidade genital sejam relativamente raros para o pediatra, este deve estar informado sobre o tema e a conduta adequada a tomar, pois freqüentemente será o responsável pela orientação inicial da família e pela ligação entre esta e a equipe interdisciplinar.

OBJECTIVE: To present the diagnostic criteria of genital ambiguity, the initial medical management and the attitude expected of pediatricians. SOURCES: Review of the scientific literature in the form of articles indexed on MEDLINE, in English and Portuguese, published between 1990 and 2007 and dealing with the pediatric age group. SUMMARY OF THE FINDINGS: Pediatricians have a fundamental role to play in the assessment of genital ambiguity, the purpose of which is to arrive at an etiologic diagnosis in the shortest possible time in order to define the patient's sex and plan treatment. There are specific diagnostic criteria, but, in general, genitalia are ambiguous whenever there is difficulty in attributing gender to a child. The pediatrician should inform the patient's family that assignment of their child's sex will depend upon detailed laboratory investigations, preferably carried out by a multidisciplinary team at a tertiary service. The 46,XX or 46,XY karyotypes are not alone sufficient to define the gender of rearing, although the test is fundamental to guide the investigation. When there are no palpable gonads, the first hypothesis should be congenital adrenal hyperplasia. Other causes included partial androgen insensitivity, 5alpha-reductase deficiency, partial gonadal dysgenesis and hermaphroditism. The family should be provided with support and information throughout the assessment process, and their participation is fundamental in the decision of which gender to rear the child in. CONCLUSIONS: Although cases of genital ambiguity are relatively rare for pediatricians, they should be well-informed on the subject and the correct management of these conditions, since they will often be responsible for the initial guidance that families receive and for maintaining contact between them and the multidisciplinary team.

El recién nacido con genitales externos ambiguos / The newborns with ambiguous external genitalia

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 genitales externos ambiguos en el recién nacido. Se revisa la diferenciación sexual normal y se presenta la nueva clasificación propuesta para los desórdenes del desarrollo sexual. Se mencionaron los aspectos clínicos, el uso de imágenes y los estudios genéticos y hormonales para el diagnóstico. Se discute sobre los diferentes elementos que deben ser considerados para la asignación de sexo.

Compuestos disruptores endocrinos y su participación en la programación del eje reproductivo / Endocrine disruptor compounds and their role on the developmental programming of the reproductive axis

Different perturbations during fetal and post natal development unleash endocrine adaptations that permanently alter metabolism, increasing the susceptibility to develop later disease, process known as "developmental programming"'. Endocrine disruptor compounds (EDC) are widely spread on the environment and display estrogenic, anti-estrogenic or anti-androgenic activity; they are lypophilyc and stored for long periods on the adipose tissue. Maternal exposure to EDC during pregnancy and lactation produces the exposure of the fetus and neonate through placenta and breast milk. Epidemiological and experimental studies have demonstrated reproductive alterations as a consequence of intrauterine and/or neonatal exposure to EDC. Diethystilbestrol (DES) is the best documented compound, this synthetic estrogen was administered to pregnant women at the BO and 60 to prevent miscarriage. It was implicated in urogenital abnormalities in children exposed in utero and withdrawn from the market. The "DES daughters" are women with high incidence of vaginal hypoplasia, spontaneous abortion, premature delivery, uterine malformation, menstrual abnormalities and low fertility. The "DES sons" show testicular dysgenesis syndrome, which is characterized by hypospadias, cryptorchidism and low semen quality. This entity is also associated to the fetal exposure to anti-androgens as flutamide. The effects on the reproductive axis depend on the stage of development and the window of exposure, as well as the dose and the compound. The wide distribution of EDC into the environment affects both human health and ecosystems in general, the study of their mechanisms of action is extremely important currently.

Diversas perturbaciones durante el desarrollo fetal y posnatal desencadenan adaptaciones endocrinas que modifican permanentemente el metabolismo, incrementando la susceptibilidad para el desarrollo de enfermedades, proceso conocido como "programación durante el desarrollo". Los compuestos disruptores endocrinos (CDE) se encuentran en el medio ambiente y presentan actividad estrogénica, antiestrogénica o antiandrogénica; son altamente lipofílicos y se almacenan por periodos prolongados en el tejido adiposo. La exposición materna a CDE durante el embarazo y la lactancia permite su paso al producto a través de la placenta y la leche materna. Estudios epidemiológicos y experimentales han demostrado alteraciones en el eje reproductivo como consecuencia de la exposición intrauterina y/o neonatal a CDE. El compuesto mejor documentado es el dietilestilbestrol (DES), este estrógeno sintético fue administrado a mujeres embarazadas durante los 50s y 60s y retirado del mercado por su implicación en anormalidades urogenitales de los bebés expuestos in útero. Las denominadas "hijas del DES" son mujeres con alta incidencia de hipoplasia vaginal, malformaciones uterinas, irregularidades menstruales, baja fertilidad y alta prevalencia de aborto espontáneo y parto prematuro. Por su parte, "los hijos del DES" presentan una entidad clínica conocida como síndrome de disgenesia testicular caracterizado por hipospadias, criptorquidia y baja calidad del semen. Este síndrome también se asocia a la exposición fetal a compuestos antiandrogénicos como la ñutamida. Los efectos en el eje reproductivo dependen del estadio de desarrollo y del tiempo de exposición, así como de la dosis y el compuesto del que se trate. La extensa presencia de CDE en el ambiente afecta la salud humana e impacta al ecosistema en general por lo cual es de suma importancia el estudio de los mecanismos involucrados en su acción.

Duplicación del pene / Penis duplication

Recién nacido, producto eutócico del primer embarazo, con controles prenatales normales y sin antecedentes perinatales de importancia. Peso de nacimiento 2,150 g, tamaño 48 cm y perímetro cefálico 34 cm. Al nacimiento se observó un gran defecto en pared abdominal.

Genitales ambiguos: técnica de la genitografía y propuesta de clasificación del seno uUrogenital de aAcuerdo a sus hallazgos / Ambiguous genitalia: technique of genitography and a proposal for the classification of the urogenital sinus according to its findings

Los pacientes con genitales ambiguos presentan dificultades diagnósticas y constituyen una emergencia médica. Su estudio requiere de un grupo interdisciplinario para la elección del sexo posible y planear la mejor estrategia quirúrgica. El estudio apropiado y precoz minimiza las compicaciones médicas, psicológicas y sociales del niño y su familia. El objetivo de este estudio es mostrar la experiencia en la utilización de la genitrografía como método de evaluación del seño urogenital en pacientes con ambigüedad genital, luego de la evaluación clínica y ultrasionografica. Mostramos la práctica en 93 pacientes seguidos en nuestra institución durante 17 años. Los diagnósticos fueron: Hiperplasia Suprarrenal Congénita, 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 de seno urogenital en 3 tipos, de acuerdo a la genitografía.

Congenital Adrenal Hyperplasia in The Bahamas due to 21-Hydroxylase Deficiency / Hiperplasia Suprarrenal Congénita en las Bahamas por Déficit de 21-Hidroxilasa

OBJECTIVE: To determine the frequency of 21-hydroxylase deficiency in The Bahamas and the spectrum of this disorder METHODS: Patients referred for evaluation of virilization, precocious puberty, ambiguous genitalia and salt wasting had blood taken for 17-hydroxyprogesterone (17-OH progesterone) which was measured by Enzyme-Linked Immunosorbent Assay (ELISA). RESULTS: Nine patients had elevated 17-OH progesterone levels--confirming 21-hydroxylase deficiency. Range of levels was 174.9 nmol/l to 81678.7 nmol/L (normal less than 13 nmol/L). There were six females and three males and the age at diagnosis ranged from 21 days to 16 years. Five had precocious development, three had salt wasting, and there was one with virilization. One of the salt wasters had ambiguous genitalia. Incidence of 2l-hydroxylase deficiency--20/100,000; salt wasting--35/100,000; the prevalence of 21-Hydroxylase deficiency 10/100,000). CONCLUSION: The frequency of 21-Hydroxylase deficiency in The Bahamas is one of the highest worldwide.

OBJETIVO: Determinar la frecuencia del déficit de 21-hidroxilasa en las Bahamas y el espectro de este problema. MÉTODOS: A los pacientes remitidos para evaluación de virilización, pubertad precoz, genitales ambiguos, y pérdida de sal, se les extrajo sangre para medir la 17-hidroxiprogesterona (17-OH progesterona) mediante un inmunoensayo enzimático (ELISA). RESULTADOS: Nueve pacientes tuvieron niveles elevados de 17-OH progesterona, confirmando el déficit de 21-hidroxilasa. El rango de niveles fue de 174.9nmol/l a 81678.7 nmol/L (normal menos de 13). Había seis hembras y tres varones, y la edad al momento del diagnóstico oscilaba entre los 21 días y los 16 años. Cinco mostraban desarrollo precoz, tres presentaban pérdida de sal, y uno exhibía virilización. Uno de los pacientes con pérdida de sal presentaba también genitales ambiguos. Incidencia del déficit de 21-hidroxilasa – 20/100 000. (Incidencia de la pérdida de sal – 35/100 000. Prevalencia del déficit de 21-hidroxilasa – 10/100 000). CONCLUSIÓN: La frecuencia del déficit de 21-hidroxilasa en las Bahamas es una de las más altas a nivel mundial.

Ambiguous genitalia: Diagnosis, evaluation and treatment

The pediatric urologist plays a significant role in the evaluation and the treatment of infant with ambiguous genitalia. On the first day of life, an investigation should be initiated which includes studies, in particular chemical studies that are based on knowledge of enzymatic blockage hormonal studies, karyo-typing and imaging evaluation. Once gender assignment has been made, information regarding the size of the vagina and its position in regard to urogenital sinus become essential to the pediatric urologist when planning a course for reconstruction. Here in we breakdown intersex states into four major categories: female pseudohermaphrodism; male pseudohermaphrodism without mullerian structures; male hermaphrodism with mullerian structures and true hermaphrodism. The role of the pediatric urologist in each of these states is discussed

21-Hydroxylase deficiency: clinical features, laboratory profile and pointers to diagnosis in Indian children.

We evaluated clinical features, laboratory profile and pointers to diagnosis of 21-hydroxylase deficiency in children presenting to the Pediatric Endocrine Clinic of our hospital from 1990 to 2002. Of the 94 patients included in the study 46 had salt wasting form (SW, 21 girls), 44 simple virilizing form (SV, 34 girls) and 4 non-classical form of the disease (NC, all girls). No difference was observed in the mean (95% confidence interval) age at diagnosis in boys and girls with salt wasting (2.3 mo (0.7-3.9 mo) against 1.3 mo (0.9-1.7 mo), p not significant) despite the presence of genital ambiguity in all girls at birth. Diagnosis of salt wasting was missed at admission in 18 boys (72%) and 3 girls (14.3%) highlighting the need for high index of suspicion for the disorder. Eight patients with 46 XX karyotype (14.5%) had male-like external genitalia with cryptorchidism emphasizing the need for evaluation of boys with cryptorchidism for female pseudohermaphroditism. Our study reiterates the need for early recognition and management of 21-hydroxylase deficiency in children in countries where neonatal screening programs are not feasible.

Associated anomalies with anorectal malformation (ARM).

OBJECTIVE: To find the prevalence of associated anomalies in children with anorectal malformation (ARM). METHODS: One hundred and forty patients (80 males and 60 females) with expand were studied to detect associated anomalies and to find their prevalence. High and low type of ARM was seen in 52.14% and 47.86% of patients respectively. Associated anomalies were more common with high type of ARM (78.08%) than in patients with low type of ARM (37.31%). 58.57% patients had associated anomalies which included those of urinary system (37.14%), vertebral system (34.28%), skeletal system other than vertebral (15.17%), genital system (14.29%), cardiovascular system (12.14%), gastrointestinal tract (10.7%) and spinal cord (10%). RESULTS: 37.43% patients had 3 or more than 3 components of VACTERL association. Two patients had all six components of VACTERL. Most common association was vertebral, anal and renal anomalies seen in 16 patients. CONCLUSION: Patients with ARM should undergo a detailed general physical, systemic and radiological examination (infanto-gram, echocardiography, US of urogenital system) in neonatal period to detect associated anomalies in early period.