Congenital adrenal hyperplasia (21-hydroxylase deficiency) without demonstrable genetic mutations.

Citation
S. Nimkarn et al., Congenital adrenal hyperplasia (21-hydroxylase deficiency) without demonstrable genetic mutations., J CLIN END, 84(1), 1999, pp. 378-381
Citations number
22
Categorie Soggetti
Endocrynology, Metabolism & Nutrition","Endocrinology, Nutrition & Metabolism
Journal title
JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
ISSN journal
0021972X → ACNP
Volume
84
Issue
1
Year of publication
1999
Pages
378 - 381
Database
ISI
SICI code
0021-972X(199901)84:1<378:CAH(DW>2.0.ZU;2-R
Abstract
Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency (21 -OHD) is the most common inherited defect of adrenal steroid biosynthesis. At least 36 mutations in the CYP21 gene, which is mapped to chromosome 6p21 .3, have been described. We performed genetic analysis of the CYP21 gene in a patient with classic 21-OHD CAH and her family. The entire exonic coding regions and intronic regions, as well as the -1 kb 5' upstream promoter re gion, were thoroughly sequenced and analyzed. Despite extensive sequencing, no mutation was found in this 3.7 kb area. The 11 beta-hydroxylase defect, closely mimicking the clinical and biochemical phenotype of classic 21-OHD , was excluded by directly sequencing 2.6 kb covering the entire coding of the CYP11B1 gene. Herein we describe a phenotypically and hormonally affect ed patient with classic simple virilizing 21-OHD CAH who lacks a mutation i n the entire CYP21 gene and coding region of the CYP11B1 gene.