TY - JOUR
T1 - Variants of the type II 3β-hydroxysteroid dehydrogenase gene in children with premature pubic hair and hyperandrogenic adolescents
AU - Nayak, Sunil
AU - Lee, Peter
AU - Witchel, Selma F.
N1 - Funding Information:
1Supported in part by grants from the National Institutes of Health as follows: (1) NIH Training Grant (NIH/NIDDK 1-T32-DK07729-01 to SN); (2) Physician Scientist Award (HD-00956 to SFW); and (3) General Clinical Research Center (5M01-RR-00084 to the GCRC at the Children’s Hospital of Pittsburgh). Also supported in part by a grant from the Pennsylvania Chapter of the American Heart Association (S.F.W.). These data were presented in part at the Society for Pediatric Research Annual Meeting, Washington, DC, May 1997.
PY - 1998/7
Y1 - 1998/7
N2 - 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.
AB - 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.
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U2 - 10.1006/mgme.1998.2715
DO - 10.1006/mgme.1998.2715
M3 - Article
C2 - 9719627
AN - SCOPUS:0031657817
SN - 1096-7192
VL - 64
SP - 184
EP - 192
JO - Molecular Genetics and Metabolism
JF - Molecular Genetics and Metabolism
IS - 3
ER -
