Incidence of disorders of sexual development in neonates in Ghana

prospective study

Ameyaw, Emmanuel
Asafo-Agyei, Serwah Bonsu
Hughes, Ieuan A
Zacharin, Margaret
Chanoine, Jean-Pierre

¹ Child Health, KATH, Kumasi, Ghana
² Department of Paediatrics, University of Cambridge, Cambridge, UK
³ Pediatrics, Royal Children’s Hospital Melbourne, Parkville, Victoria, Australia
⁴ Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada

Dr Emmanuel Ameyaw, Department of Child Health, Komfo Anokye Teaching Hospital, Kumasi, Ghana ; [email protected]

Received February 05, 2019

Received in revised form March 29, 2019

Accepted March 31, 2019

Archives of Disease in Childhood 104(7):p 636-638, July 2019. | DOI: 10.1136/archdischild-2019-316986

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.