Differences in hormonal levels between heterozygous CYP21A2 pathogenic variant carriers, non-carriers, and females with non-classic congenital hyperplasia

Author:

Silva Rita SantosORCID,Carvalho BertaORCID,Pedro JorgeORCID,Castro-Correia CíntiaORCID,Carvalho DavideORCID,Carvalho FilipaORCID,Fontoura ManuelORCID

Publisher

Archives of Endocrinology and Metabolism

Subject

Endocrinology, Diabetes and Metabolism

Reference37 articles.

1. Clinical review 54: Genetics, diagnosis, and management of 21-hydroxylase deficiency;Miller;J Clin Endocrinol Metab,1994

2. Carrier frequency of congenital adrenal hyperplasia (21-hydroxylase deficiency) in a middle European population;Baumgartner-Parzer;J Clin Endocrinol Metab,2005

3. CYP21A2 Gene Pathogenic Variants: A Multicenter Study on Genotype-Phenotype Correlation from a Portuguese Pediatric Cohort;Santos-Silva;Horm Res Paediatr,2019

4. Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline;Speiser;J Clin Endocrinol Metab,2018

5. High incidence of molecular defects of the CYP21 gene in patients with premature adrenarche;Dacou-Voutetakis;J Clin Endocrinol Metab,1999

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