Prevalence of genital abnormalities in neonates

To assess the prevalence of genital abnormalities among neonates in two public maternity-schools.

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.

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.

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.