Background: Disorders of sex development (DSD) is a group of uncommon birth defects. Androgen excess in genetic females and androgen deficiency in genetic males can result in DSD. A child with ambiguous genitalia could be a virilized female or an under-masculinized male. Presented here is the socio-demographic profile, age at diagnosis, clinic 351al profile and etiology of patients with 46,XY DSD who are on follow up at our hospital.
Objective and hypotheses: Children with DSD are usually diagnosed and treated during infancy However in resource poor countries (where all deliveries are not conducted by medical or paramedical people), many of these children remain undiagnosed/ untreated for long periods. This has given us an opportunity to learn the natural history of this disorder, particularly gender identity in the absence of medical intervention. Here we present.
Method: All patients underwent detailed medical history including parental consanguinity, clinical evaluation, hormonal profile, karyotyping and imaging for gonads and mullerian structures. Children >6 years old underwent detailed psychological evaluation.
Results: Ninety five 46,XY DSD patients were enrolled in a period of 3 years. Age at initial evaluation ranged from newborn to 31 years (11.4±7.7). 88 patients had ambiguous genitalia, four presented with primary amenorrhea and three with labial swelling. Among 88 children with ambiguous genitalia, parents of only 31 were informed about this at birth. 50 of the 95 children were given female gender assignment at birth. 21 of these were subsequently re-assigned male gender. 30 cases were diagnosed with 5αRD, 31 patients had AIS and 19 cases were diagnosed with gonadal dysgenesis.
Conclusion: There was delay due to socio-economic reasons and lack of information related to DSD and its management in children, who did not receive treatment during infancy/early childhood. AIS and 5αRD were the most common causes for 46,XY DSD.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology