CYP21A2 mutations in pediatric patients with congenital adrenal hyperplasia in Costa Rica.

ABSTRACT: Steroid 21-hydroxylase deficiency accounts for 95% of congenital adrenal hyperplasia (CAH) cases. Newborn screening has allowed for early detection of the disease, and currently, molecular analysis can identify the genotypes of these patients. Phenotype-genotype correlation has been well described in previous studies. In Costa Rica, there is no data about the genetic background of these patients, nor their phenotypic correlation.

Design

Observational, retrospective, descriptive study based on the review of patient records who had a diagnosis of CAH and were performed molecular analysis using gene sequencing or MLPA during the period from 2006 to 2018 (N = 58).

Objective

To describe the clinical and genetic characteristics of CAH patients due to 21-hydroxylase deficienc

SUBMITTER: Umana-Calderon A 

PROVIDER: S-EPMC7875833 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature