RESUMO
BACKGROUND: Disorders of sex development (DSD) 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 (1:3,000 livebirths). AIMS: We want to 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. METHODS: 208 patients with ambiguous genitalia were recruited from the genetic clinic from 2000 to 2005. They were subjected to history taking, pedigree analysis. Full clinical examination, cytogenetic study, hormonal, radiological investigations, and molecular studies were performed where possible. RESULTS: 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 a severe degree of ambiguity. CONCLUSION: Disorders of sex development have a broad range of underlying causes also in Egypt 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.
