PMID: 9545098Apr 17, 1998Paper

Identification of heterozygotic carriers of 21-hydroxylase deficiency: sensitivity of ACTH stimulation tests

American Journal of Medical Genetics
Selma Feldman Witchel, P A Lee

Abstract

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is a common autosomal-recessive disorder. To ascertain carrier status, adrenocorticotropin (ACTH) stimulation tests are often used. To determine the sensitivity of ACTH stimulation to detect heterozygotes and to correlate stimulated 17-hydroxyprogesterone responses with molecular genotype, we compared molecular genetic analysis of the 21-hydroxylase (CYP21) gene with 17-hydroxyprogesterone responses at 30 min in 51 individuals. Molecular genotype analysis and ACTH stimulation tests were performed in healthy volunteers (n = 20) and relatives of patients with congenital adrenal hyperplasia (n = 31). Polymerase chain reaction (PCR) amplification, single-strand conformational polymorphism (SSCP) analysis, allele-specific oligonucleotide hybridization (ASOH) analysis, and restriction fragment length polymorphism (RFLP) analysis were utilized to screen for 14 CYP21 mutations which account for >90% of the mutations associated with 21-hydroxylase deficiency. Molecular genotype analysis classified 28 individuals as heterozygotic carriers and 23 individuals as normal for all mutations tested. As a group, the heterozygotes had significantly greater stimulated 17-hydroxyproges...Continue Reading

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Citations

May 23, 2006·Clinical Endocrinology·Osnat AdmoniYardena Tenenbaum-Rakover
Feb 27, 2016·Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists·Henrik Falhammar, David J Torpy
Jun 17, 2004·Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology·Ann M RasmussonDennis S Charney
Oct 11, 2008·Dermatologic Therapy·Cem Demirci, Selma Feldman Witchel
Aug 15, 2002·American Journal of Pharmacogenomics : Genomics-related Research in Drug Development and Clinical Practice·P W Speiser
May 1, 2013·Expert Review of Endocrinology & Metabolism·Sara AhmadiRandall J Urban
Apr 5, 2002·The Journal of Clinical Endocrinology and Metabolism·Berenice B MendoncaAna Claudia Latronico
Jun 17, 2000·Endocrine Reviews·P C White, P W Speiser
Aug 25, 2020·Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association·J MeinelA Richter-Unruh

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