Prevalência de anormalidades genitais em recém-nascidos / Prevalence of genital abnormalities in neonates

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.

Ambiguous genitalia: two decades of experience

Ambiguous genitalia is a complex, medical and social emergency. The aim of this study is to present our experience over two decades, focusing on the pattern and clinical presentation. A retrospective study conducted in the pediatric endocrine clinic at a university hospital in Saudi Arabia during the period 1989-2008. Medical records of children with ambiguous genitalia were reviewed and the genitalia described. Of the 81 children with ambiguous genitalia, 53 [65.4%] patients were genetically females [46XY], with congenital adrenal hyperplasia being the common cause in 51 [96.5%] patients. Hyperpigmentation, variable degrees of salt wasting and a family history of a similar problem helped in diagnosis. Male genetic sex [46XY] was present in only 28 [34.6%] patients with a diversity of causes; multiple congenital anomalies in 9 [32.1%], local anorectal anomalies in 2 [7.1%], congenital adrenal hyperplasia [3-[beta-hydroxysteroid dehydrogenase deficiency] in 2 [7.14%], 5-alpha-reductase deficiency in 4 [14.28%], partial androgen insensitivity in 3 [10.7%], complete androgen insensitivity in 4 [14.28%], and hypogonadotrophin deficiency in 4 [14.3%]. Twenty-five [47.2%] of females were wrongly assigned as males, where only two [7.1%] males were wrongly assigned as females. Ambiguous genitalia, currently termed disorders of sex development [DSD], is not uncommon in our community. Increased awareness, a detailed history, and a careful physical examination, coupled with appropriate laboratory and radiological investigations aid in early diagnosis and avoid serious sequelae

Eight years evaluation of children with ambiguous genitalia attending the endocrinology clinic of Alexandria university children's hospital: a retrospective study

Ambiguous genitalia is a real problem in Egypt representing 5.5% of total number of endocrine patients in our study. There is a wide variation of the age at presentation. More than one third of our patients presented with adrenal crisis which is the most serious complication of ambiguous genitalia. Management of cases of DSD requires an experienced multidisciplinary team that is usually found in tertiary centers. Gender assignment in cases of DSD is a difficult challenge. Lack of some laboratory investigations or their higher cost as well as unavailability of some genetic analysis in developing countries are important causes of delayed diagnosis in these cases. The aim of the work was to review the clinical characteristics of children with ambiguous genitalia who attended the endocrinology clinic of Alexandria University Children's Hospital between 2002-2009 to categorize them depending on their clinical, laboratory and radiological findings and to study the response to therapy. All the records of children with ambiguous genitalia who attended the endocrinology clinic in Alexandria University Children's Hospital in the period from 2002 to 2009 were reviewed to obtain data from files regarding history, clinical examination, genital examination and grading, laboratory investigations, karyotyping, radiological findings, laparoscopic findings, final diagnosis, management plan, and gender assignment. This study included 77 children with ambiguous genitalia: Clinically, the sex of presentation was 49 females [63.6%], 21 male patients [27.3%], and 7 cases presented with undetermined sex [9.1%] while according to DSD classification, our patients were classified into 46 XX DSD [79.2%],46 XY DSD [19.5%], and Ovotesticular DSD [only one case]. The age of presentation ranged from 0.23-120 months with a mean of 11.07 +/- 20.03 months. Consanguinity among patient's parents was observed in 36.4%. 39% of our patients presented with adrenal crisis, and 5.2% were associated with other congenital anomalies. 3.8% had pubic hair at presentation and only one case had hypertension. In cases of 46 XXDSD, salt-losing type of congenital adrenal hyperplasia [21-Hydroxylase deficiency] was the commonest type representing 78.7%. In cases of 46 XYDSD, the most frequent diagnosis was androgen insensitivity syndrome that was present in 53.3%. Regarding to gender assignment, 48 cases were reared as females [62.3%] and ten cases were reared as males [13%], the same as their initial sex assignment by their families. 14 cases [18.2%] changed their gender from males to females and five cases [6.5%] had changed from female to male. From our study, we concluded that ambiguous genitalia is a real problem in our country representing 5.5% of total number of endocrine patients in our study. Management of cases of DSD requires an experienced multidisciplinary team that is usually found in tertiary centers. Gender assignment in cases of DSD is a difficult challenge. Lack of some laboratory investigations or their higher cost as well as unavailability of some genetic analysis in developing countries may delay and affects the final diagnosis of some cases of ambiguous genitalia

A rare case of congenital heart disease with ambiguous genitalia.

Birth defects have become the important cause of mortality and morbidity in the perinatal period. Congenital heart disease (CHD) is the most common birth defect which includes the varying forms of cardiac abnormalities and occurs with an incidence of 1 per 100 live births. In most of the cases, CHD is an isolated malformation, but about 33% have associated anomalies. Ambiguous genitalia are one such rare anomaly that is associated with CHD among other genital abnormalities. The possible causes for this association could be pseudohermaphroditism, which in turn, may be due to congenital adrenal hyperplasia. The government of any country should consider providing for its people a free prenatal diagnosis for susceptible disorders.

Pediatric disorders of sex development.

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.

Sexo ambiguo: prevalencia al nacimiento en la maternidad del Hospital Clínico de la Universidad de Chile / Ambiguous sex: prevalence at birth in a university obstetric service in Santiago, Chile

Background: Ambiguous sex has a great phenotypic variability and is a serious medical and social problem. Aim: To study the prevalence of ambiguous sex among newborns. Material and methods: As part of the ECLAMC (Cooperative Latin American Study of Congenital Malformations) all newborns with malformations are registered and the next normal newborn is considered as a control. Results: 50.253 births occurred (between 1982 and 1999) in the University of Chile Maternity Hospital. The rate of congenital malformations was 6.78 percent and the prevalence of ambiguous sex was 4.7 per 10.000 births. Affected children had a lower birth weight, lower gestational age and a lower maternal age than controls. The most frequent associated malformations were of the urinary (64 percent) and cardiovascular systems (60.7 percent). Thirty two percent of affected children had specific syndromes. Conclusions: The prevalence of ambiguous sex in this study was 4.7 per 10.000 births, which is higher than that reported in the ECLAMC (1.9 per 10000)

Genitales ambiguos: experiencia en el Hospital Nacional "Guillermo Almenara I." / Ambiguous genitalia: experience in the Guillermo Almenara Irigoyen National Hospital

Durante los años 1988 a 1993 se evaluó a 20 niños portadores de ambiguedad sexual. Se encontró que el 70 por ciento de niños presentaban un cariotipo 46XX, y en estos pacientes el 57 por ciento correspondió a Hiperplasia Adrenal Congénita; en pacientes con cariotipo 46XY, la mayor frecuencia correspondio a Sindrome de Malformacione Multiples. Entre todos los pacientes con genitales ambiguos, la mayor frecuencia correspondió a Hiperplasia Adrenal Congénita, seguido del Sindrome de Malformaciones Multiples y la clitoromegalia