Etiologic diagnosis of children with ambiguous genitalia in Jos University Teaching Hospital

Abstract

Background: Ambiguous genitalia (AG) is a stigmatized condition with varied etiologies. The aim of this review is to describe the etiologic profile of children with AG in a developing country.

Methods: This is a retrospective review from January 2014 to December 2018 of children presenting with AG. Sociodemographic, clinical, ultrasonographic (USS), laboratory data including karyotype and diagnosis were retrieved and presented using descriptive statistics.

Results: Fifteen cases of AG were reviewed. The age range was 1 week to 14 years at presentation. Five children were 1-28 days, 3 each were between 1-11 months and 1- 5 years and 4 were aged = 6 years. Four children had sibling with AG, 1 family each had a history of previous neonatal death and consanguineous family. Three children each had features of salt lost and clitoromegaly after clitoral reduction, and 2 were hypertensive. Two cases had palpable gonads. USS showed Mullerian structures only in 11 cases, wolffian structures in 2 and mixed picture in 2 children. Serum 17 hydroxyl progesterone (17 OHP) was elevated in 9 and normal in 4 and not available in 2 patients. Karyotype obtained were: 46XX in 6 cases, and one cases each of 45X (11), 46 XY (19) and 45, X [11]/46, XY. A diagnosis of 46 XX CAH (congenital adrenal hyperplasia) 21 hydroxylase deficiency subtype was made in 9 children, CAH 11 beta hydroxylase deficiency subtype was diagnosed in 2 children and 2 cases each of mixed gonadal dysgenesis and 46XY DSD were diagnosed.

Conclusion: 46XX DSD CAH is the commonest cause of AG in our locality. The etiology of AG will be better defined with a larger sample size and a comprehensive laboratory evaluation.

Keywords: Ambiguous, Genitalia, Congenital, Adrenal, Hyperplasia