Disorders of sex development with birth of an infant with ambiguous genitalia require medical attention to elucidate the differential diagnosis. This group of disorders is not uncommon in Egypt (1:3000 live births). In this study we provide an extensive review of a patient collective with ambiguous genitalia from 6 years experience at the Department of Clinical Genetics at the National Research Center in Egypt. Moreover, a first pilot study was conducted in Great Cairo and Kalioubia Governerates in 2007 showing the relatively high incidence of disorder of sexual development (DSD) and genital abnormalities. Two hundred and eight patients with ambiguous genitalia were recruited from the genetic clinic from 2000-2005. They were subjected to history taking, pedigree analysis. Full clinical examination, cytogenetic study, hormonal, radiological investigations, and molecular studies were performed when possible. 46,XY DSD was more common than 46,XX DSD constituting 65.9% of total cases. Consanguinity was high with 61% in the affected families, however, only 21 cases had a positive family history. There was preference of male sex of rearing (regardless of karyotype), despite severe degree of ambiguity. In Egypt, Disorders of sex development have a broad range of underlying causes with some preference of rare monogenic disorders. For improving diagnostic standards, the provision of centers of tertiary pediatric care is recommended for patients with DSD even in developing countries.

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