ESPE Abstracts

Study Objective: To describe the clinical presentation and characteristics of DSD in Kenyan children and adolescents.

Methodology: This retrospective observational study was carried out at Kenyatta National hospital and Gertrude’s Children’s Hospitals involving 71 patients age 0–19 years with DSD enrolled in the clinics between January 2008 to December 2015.

Results: The mean age at the time of diagnosis was 2.7 years with a median of 0.4 years. Physical measurements showed that 25 participants (39.7%) had weights below −2 SDs, and 20 participants (44.4%) had height below −2 SDs. 16% of these children were born prematurely. 53% were from Nairobi. One child was managed for severe malnutrition. There was no evidence of abandonment or neglect. Of the 16 children, 12 (75%) had normal blood pressure and 4 (25%) were hypertensive. Among the hypertensive patients, one had anorectal malformation and congenital talipes equinovarus while other patients had sex chromosome DSD and disorder of testosterone biosynthesis. Among the 7 patients with CAH, 4 were normotensive. Among 58 patients, 6 (10.3%) reported genital ambiguity in family. Five (15.2%) patients had family history of infertility. History of parental consanguinity was present in 3 (12.5%). Among 60 patients, 2 (3.3%) had been exposed to drugs during antenatal period. Out of 59 patients, 50(84.7%) were delivered in hospital. There was family history of infant deaths in 9 (30%). 95.7% of the patients presented with symptoms of DSD at birth. 77.5% presented with ambiguous genitalia alone while 15.5% presented with ambiguous genitalia and other symptoms. 60% of these patients had a Prader Score of 3. while 39.7% had prader score ranging from 4 to 6. Ambiguous genitalia was initially observed by the mother in 32 (51.6%) and by healthcare provider in 28 (45.1%) patients. Thirty-six (50.7%) patients were initially assigned a male gender while 31 (43.7%) reared as females. 23.9% of patients had gender reassignment at final diagnosis.

Conclusion: Patients with DSD may present at a wide age range varying from the first day of life to late adolescence. Ambiguous genitalia was initially observed by the patient’s mother in majority of cases despite a high rate of delivery in hospital. This may be due to the fact that midwives and primary healthcare doctors are not trained on this and there is no national guideline for diagnosis and management of DSD. There is a need of intensifying training on DSD at primary and secondary level of healthcare centers.