A new mutation of 5-alpha-reductase type 2 (A62E) in a large Egyptian kindred

Objective: To describe the clinical, biological and molecular data in a large Egyptian kindred with 5α-reductase deficiency. Patients and Methods: Three patients with ambiguous genitalia were referred at the ages of 20, 9 and 2 years, respectively. In all cases, parents were first cousins. Basal and post-HCG stimulation plasma levels of testosterone and dihydrotestosterone were determined. Direct sequencing and restriction site analysis were applied for patient and family study. Results: A homozygous alanine to glutamic acid substitution at position 62 (A62E) was found in the three patients. The parents and two XX sisters were heterozygous while a third XX sibling was normal. Conclusion: We report a new mutation of the 5α-reductase type 2 gene. The presence of this mutation in all studied patients and their parents suggests its causative role in 5α-reductase deficiency. Identification of the mutation enabled genetic counselling for three XX individuals. Copyright © 2003 S. Karger AG, Basel.