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Diagnosis and management of patients with sex differentiation disorders: experience at the Unit of Medical Genetics of the University of Zulia, Maracaibo, Venezuela

Abstract:

Abnormalities of sexual differentiation (ASD) represent a group of entities, heterogeneous in their etiopathogenesis and clinical manifestations. In order to characterize and analyze the epidemiologic, clinical, endocrine and genetic aspects of patients with ASD consulting UGM-LUZ between 1971-1996, the families that had at least one of its members affected were evaluated. Strict diagnostic criteria to each entity were applied. Cytogenetic, hormonal, radiological, echographic and anatomopathological evaluations were done in each patient. From 391 families, 429 patient consulted with ASD. They represent 5.4% of the patient who consulted to UGM-LUZ in the same period. 214 (50%) patients with definitive diagnosis of ASD were identified to fill the established inclusion criteria. The distribution was the following: 139 with anomalies of the sexual chromosomes; 36 with congenital adrenal hyperplasia; 21 with complete androgen insensitivity syndrome; 14 with mixed gonadal dysgenesis; and 4 with true hermaphroditism. 183 (42.7%) patients with male pseudohermaphroditism and 17 (3.9%) with female pseudohermaphroditism were diagnosed as they did not fulfill the established diagnostic criteria. 15 (3.4%) patients presented ASD associated to a polymalformative syndrome. The ASD are very complex entities, they need the participation of an interdisciplinary team for their diagnosis and management process.