Splicing analysis of CYP11B1 mutation in a family affected with 11β-hydroxylase deficiency: case report.

ABSTRACT:

Background

Congenital adrenal hyperplasia (CAH) due to steroid 11β-hydroxylase deficiency (11β-OHD) is a rare form of CAH associated with low renin hypertension, hypokalemia, hyperandrogenemia and ambiguous genitalia in affected females. Herein we describe the clinical, hormonal and molecular characteristics of two Uzbekistan siblings with 11β-OHD and analyze the effects of a splicing mutation.

Case presentation

A 46,XX girl presented with genital ambiguity and low renin hypertension; her 46,XY brother presented with precocious puberty. Hormonal studies suggested 11β-OHD. Mutation analysis was performed by PCR followed by Sanger sequencing of the entire coding regions and their flanking introns of the CYP11B1 gene. Mutation analysis showed that both patients were compound he

SUBMITTER: Charnwichai P 

PROVIDER: S-EPMC4912772 | biostudies-literature | 2016 Jun

REPOSITORIES: biostudies-literature