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Published on: March 5, 2020
Incidence of disorders of sexual development in neonates in Ghana: prospective study
Emmanuel Ameyaw1, Serwah Bonsu Asafo-Agyei1, Ieuan A Hughes2
1Child Health, KATH, Kumasi, Ghana.
Insights
The incidence of disorders of sexual development (DSD) in Ghana was found to be 28 per 10,000 live births. Congenital adrenal hyperplasia (CAH) occurred in 4.3 per 10,000 births and was linked to consanguinity.
Area of Science:
- Pediatric Endocrinology
- Genetics
- Public Health
Background:
- Disorders of sexual development (DSD) are a group of congenital conditions affecting reproductive development.
- The incidence and characteristics of DSD in sub-Saharan Africa remain largely unknown.
- Understanding DSD prevalence is crucial for early diagnosis and management in diverse populations.
Purpose of the Study:
- To determine the incidence and describe the characteristics of DSD in a cohort of infants born in Ghana.
- To establish baseline data for DSD in a sub-Saharan African population.
- To identify specific DSD conditions and their potential associations.
Main Methods:
- A prospective cohort study was conducted at Komfo Anokye Teaching Hospital in Kumasi, Ghana.
- Systematic genital examinations were performed on 9255 consecutive newborns within 72 hours of birth.
- Infants with suspected DSD were further evaluated by a pediatric endocrinologist, including ultrasound and hormonal assessments.
Main Results:
- A total of 26 neonates were diagnosed with DSD, yielding an incidence of atypical genitalia of 28 per 10,000 live births.
- DSD without genital ambiguity included isolated micropenis, hypospadias, cryptorchidism, and clitoromegaly.
- DSD with genital ambiguity included four cases of XX DSD due to congenital adrenal hyperplasia (CAH) and three cases of XY DSD.
Conclusions:
- The incidence of DSD in Ghana is estimated at 28/10,000 live births.
- The incidence of CAH was 4.3/10,000 live births and showed a strong association with consanguinity.
- This study provides essential epidemiological data on DSD in sub-Saharan Africa.
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.
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