Emmanuel Ameyaw 1 , Serwah Bonsu Asafo-Agyei 1 , Ieuan A Hughes 2 , Margaret Zacharin 3 , Jean-Pierre Chanoine 4 Show Affiliations »
Abstract
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. © Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.
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. © Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.
Entities: Chemical
Disease
Species
Keywords:
congenital abnorm; endocrinology; epidemiology; neonatology
Year: 2019
PMID： 31097528 DOI： 10.1136/archdischild-2019-316986
Source DB: PubMed Journal: Arch Dis Child ISSN： 0003-9888 Impact factor: 3.791