Clinical, endocrine, and molecular genetic findings in patients with 17 beta-hydroxysteroid dehydrogenase deficiency

Mutations in the 17 beta-hydroxysteroid dehydrogenase (17 beta-HSD) type 3 gene are associated with the clinical findings of 17 beta-HSD deficiency. W e investigated 5 patients of German descent with 46,XY karyotype and predom inantly female phenotype. Androstenedione (A) and testosterone (T) levels i n serum were determined before and after stimulation with human chorionic g onadotropin. DNA analysis of the whole coding region of the 17 beta-HSD typ e 3 gene was performed by PCR, single-strand conformation analysis, and dir ect sequencing. In all patients we found highly variable A and T levels bef ore and after stimulation. However, the A-to-T ratio was abnormal in all ca ses suggestive of 17 beta-HSD deficiency. Molecular genetic analysis reveal ed mutations in all patients. We conclude that A and T levels may be highly variable in patients with 17 beta-HSD deficiency. Molecular genetic analys is of the 17 beta-HSD gene may support the diagnosis of this disorder. Copy right (C) 2000 S. Karger AG, Basel.