Absence of steroid biosynthetic defects in heterozygote individuals for classic 11β-hydroxylase deficiency due to a R448H mutation in the CYP11B1 gene

Ariel Rösler, Hofit Cohen

Research output: Contribution to journalArticlepeer-review

Abstract

Steroid 11β-hydroxylase deficiency (failure to convert 11-deoxy-cortisol to cortisol) is responsible for less than 5% of cases of classic congenital adrenal hyperplasia, but it is relatively frequent in Israel, among Jews of Moroccan origin. Affected individuals have a single base substitution in exon 8 of CYP11B1 gene, codon 448, from CGC (arginine) to CAC (histidine) (R448H), a mutation that abolishes enzyme activity completely. We studied the hormonal response to ACTH stimulation in individuals genotyped to have the R448H mutation in one allele only (heterozygotes), and who were therefore assumed to have 50% of 11β-hydroxylase activity. No demonstrable hormonal abnormalities were found in the 6 adults (3 mothers and 3 fathers) and 2 sons studied, suggesting that a quantitatively reduced 11β-hydroxylase is still enough for normal adrenal biosynthesis.

Original languageEnglish
Pages (from-to)3771-3773
Number of pages3
JournalJournal of Clinical Endocrinology and Metabolism
Volume80
Issue number12
DOIs
StatePublished - Dec 1995
Externally publishedYes

Fingerprint

Dive into the research topics of 'Absence of steroid biosynthetic defects in heterozygote individuals for classic 11β-hydroxylase deficiency due to a R448H mutation in the CYP11B1 gene'. Together they form a unique fingerprint.

Cite this