The role of the pediatrician in the management of children with genital ambiguities

Guerra‐Júnior, Gil; Maciel‐Guerra, Andréa Trevas

doi:10.2223/jped.1706

Cited by 23 publications

(28 citation statements)

References 37 publications

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“…The birth of a child with ambiguous genitalia is a major cause of parental anxiety and can lead to psychosocial problems if not managed properly. The general consensus on the management of a child with ambiguous genitalia is for prompt diagnosis to be made before discharge so that an early sex of rearing can be assigned to the child as well as to plan treatment [2]. Only one of the cases in this report was detected at birth this may be because the child was born in a tertiary health care centre with specialist in attendance.…”

Section: Discussionmentioning

confidence: 90%

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Ambiguous External Genitalia in Childhood in Port Harcourt, Nigeria

Jaja¹,

Anochie²,

Paediatrician³

2011

Pediatr Therapeut

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Ambiguous external genitalia are a major cause of parental anxiety and a challenge to paediatricians in developing countries. Aims and objectives:This study aims to highlight the pattern of presentation and challenges in the management of ambiguous external genitalia in a developing country. Patients and methods:A prospective study of all patients with ambiguous external genitalia managed in the paediatric endocrine unit of the University of Port Harcourt Teaching Hospital between January 2008 and Dec 2010 was done. Biodata, clinical presentation, management and outcome were documented.Results: Six patients were seen with ambiguous external genitalia during the study period. Age ranged from birth to 16 years at presentation. The commonest presentation was clitoral hypertrophy in all patients. The commonest initial diagnosis was CAH.Definitive confirmation of cause of ambiguous external genitalia with a reconstructive surgery was done in only one patient due to non-availability and high cost of investigation. Three (50%) patients were lost to follow up of which 2(66.7%) have resorted to spiritual treatment. One patient who presented at 16 years of age died from an associated obstructive uropathy with chronic renal failure. Conclusion:The challenges in managing children with ambiguous external genitalia in developing countries include late presentation, high cost andnon-availability of investigations for making definitive diagnosis.

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Section: Discussionmentioning

confidence: 90%

“…The external genitalia are considered ambiguous whenever there is difficulty in assigning gender to a child based on the appearance of the external genitalia [1,2]. It is a common presentation of children with disorders of sex development (DSD) and a cause of parental anxiety.…”

Section: Introductionmentioning

confidence: 99%

Ambiguous External Genitalia in Childhood in Port Harcourt, Nigeria

Jaja¹,

Anochie²,

Paediatrician³

2011

Pediatr Therapeut

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“…A partir do resultado do cariótipo, exames hormo nais, histopatológicos, moleculares e de imagem são utilizados para prosseguir na investigação e chegar ao diagnóstico etiológico (20). Assim, quando é solicitado o estudo cromossômico são poucos os elementos para estabelecer uma hipótese diagnóstica (somente história clínica e exame físico, na maioria das vezes) e não é possível prever se haverá necessidade de pesquisar mo saicismo por FISH.…”

Section: Discussionunclassified

Uso da FISH em mucosa oral para investigação de mosaicismo com linhagem 45,X: estudo com homens saudáveis e pacientes com distúrbios da diferenciação do sexo

Paulo

Andrade

Santos

et al. 2014

Arq Bras Endocrinol Metab

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Objetivo: Verificar se a hibridização in situ por fluorescência (FISH) em células de mucosa oral poderia ser empregada para detectar criptomosaicismo com linhagem 45,X em pacientes 46,XY. Sujeitos e métodos: Amostra de 19 jovens saudáveis 46,XY e cinco pacientes com distúrbios da diferenciação do sexo (DDS), quatro 45,X/46,XY e um 46,XY. FISH com sondas específicas para X e Y em núcleos interfásicos de linfócitos e mucosa oral para investigar a proporção de núcleos contendo apenas o sinal do cromossomo X. Resultados: A frequência de núcleos contendo apenas o sinal do X nos dois tecidos dos homens saudáveis não diferiu (p = 0,69). Em todos os pacientes com DDS essa frequência foi significativamente maior, e também não houve diferença entre os dois tecidos (p = 0,38). Conclusões: A investigação de mosaicismo com linhagem 45,X em pacientes com DDS 46,XY ou esterilidade pode ser feita por FISH diretamente em células de mucosa oral.

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“…Essa atitude pode refletir a pouca importância dada à anormalidade ou mesmo o seu não reconhecimento por parte do pediatra/neonatologista, o que reforça o já mencionado problema de subdiagnóstico e sub-registro e o importante papel desempenhado pelo "primeiro médico" 22 .…”

Section: Métodosunclassified

Prevalence of genital abnormalities in neonates

Monlleó¹,

Zanotti²,

Araújo³

et al. 2012

J Pediatr (Rio J)

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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.J Pediatr (Rio J). 2012;88(6):489-95: Genital abnormality, neonatal screening, disorders of sex development. ResumoObjetivos: 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:Ev...

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The role of the pediatrician in the management of children with genital ambiguities

Cited by 23 publications

References 37 publications

Ambiguous External Genitalia in Childhood in Port Harcourt, Nigeria

Ambiguous External Genitalia in Childhood in Port Harcourt, Nigeria

Uso da FISH em mucosa oral para investigação de mosaicismo com linhagem 45,X: estudo com homens saudáveis e pacientes com distúrbios da diferenciação do sexo

Prevalence of genital abnormalities in neonates

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