Objective The incidence of disorders of sexual development (DSD) is unknown in sub-Saharan Africa. We describe the characteristics and incidence of DSD in a cohort of infants born in Ghana.
Design Trained research assistants performed systematic genital examination at birth. All infants with suspected abnormal genitalia were further examined by a paediatric endocrinologist.
Setting Komfo Anokye Teaching Hospital, Kumasi, Ghana.
Patients Consecutive infants born in a single centre over a 1-year period (May 2014 to April 2015).
Main outcome measures Incidence of DSD. Micropenis was defined as a stretched length <2.1 cm and clitoromegaly as a clitoral length >8.6 mm.
Results We examined 9255 infants (93% of all live births) within 72 hours of birth. Twenty-six neonates had a DSD. Nineteen infants had DSD without genital ambiguity: isolated micropenis (n=2), hypospadias (n=7), cryptorchidism (n=4) and clitoromegaly (n=6). Seven infants had DSD with ambiguity: clitoromegaly with a uterus on ultrasound and elevated 17-hydoxyprogesterone, suggesting XX DSD due to congenital adrenal hyperplasia (CAH)(n=4) and micropenis, hypospadias and gonads in a bifid scrotum or in the inguinal region, consistent with XY DSD (n=3).
Conclusion The incidence of atypical genitalia was 28/10,000 (95% CI 17/10 000 to 39/10 000) live births. The incidence of CAH was 4.3/10 000 (95% CI 1.2/10 000 to 11.1/10 000) and was strongly associated with consanguinity.
- congenital abnorm
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Contributors EA was the principal investigator, contributed to the concept, the study design, conducted the study, drafted the manuscript and contributed to review. SBAA assisted in conduct of the study, contributed to manuscript writing and review. IAH contributed to writing and review of paper. MRZ contributed to the concept and study design, contributed to the manuscript and review. JPC conceived the concept and contributed to study design, contributed to the manuscript writing and review.
Funding Global Pediatric Endocrinology and Diabetes (GPED, www.globalpedendo.org) funded this project.
Disclaimer The funders had no role in the collection, analysis and interpretation of data or the writing of this manuscript.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.
Data sharing statement All deidentified data were made available to all coauthors by the first author.
Patient consent for publication Not required.
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