3-beta-hydroxysteroid dehydrogenase deficiency congenital adrenal hyperplasia: a rare disorder in Saudi arabia

Background: 3-beta-hydroxysteroid dehydrogenase deficiency is a rare type of congenital adrenal hyperplasia that impairs steroidegenesia. The clinical spectrum of this inherited disorder is heterogenous and ranges from the severe salt-wasting with or without ambiguous genitalia to the non-salt-wasting form. Design and Setting: A retrospective-hospital based study, conducted at King Khalid University Hospital (KKUH), Riyadh, Saudi Arabia, during the period January 1990 and December 2014. Patients and Methods: During the period under review, 95 patients were diagnosed with congenital adrenal hyperplasia, of these; only 4 (4.2%) patients were diagnosed with 3-beta-hydroxysteroid dehydrogenase deficiency and constituted the subjects for the study. Their medical records were retrospectively reviewed. This included age, sex, clinical presentation and important chromosomal, radiological and biochemical investigations. Results: Four Saudi patients, three from one family, were diagnosed with 3--hydroxysteroid dehydrogenase deficiency, among 95 (4.2%) patients with congenital adrenal hyperplasia. Their clinical and biochemical characteristics were presented. Conclusion: Although rare, 3-beta-hydroxysteroid dehydrogenase deficiency congenital adrenal hyperplasia, should be considered in the 46XY individuals presenting with ambiguous genitalia, with or without salt-wasting, as well as a normal looking females with salt-wasting.