To ascertain the potential role of heterozygosity for 3β- hydroxysteroid (3β-HSD) deficiency in children with premature pubic hair and adolescent girls with hyperandrogenism, we performed single-strand conformational polymorphism (SSCP) analysis of the 3β-hydroxysteroid dehydrogenase type 2 (3β-HSD2) gene in 34 hyperandrogenic patients. Three sequence variants, two missense mutations and a 3'-UTR sequence variant, were detected among seven patients and in none of 100 healthy control subjects. One of these seven patients carried Leu236 → Ser on one 3βHSD2 allele and Glu318 → STOP on one 21-hydroxylase (CYP21) allele. ACTH stimulation tests were performed in 5/7 patients with sequence variants and were compatible with decreased 3β-hydroxysteroid dehydrogenase activity in three. Thus, 7 of 34 (20.6%) mildly hyperandrogenic patients carry heterozygous sequence variants of the 3β-HSD2 gene. Since obligate heterozygotic carriers for congenital adrenal hyperplasia are typically asymptomatic, other genetic or environmental influences may contribute to the expression of hyperandrogenic symptoms in our patients.
All Science Journal Classification (ASJC) codes
- Endocrinology, Diabetes and Metabolism
- Molecular Biology