A Case of Salt-Wasting Congenital Adrenal Hyperplasia with Triple Homozygous Mutation: Review of Literature-Reference-Cited by-同舟云学术

A Case of Salt-Wasting Congenital Adrenal Hyperplasia with Triple Homozygous Mutation: Review of Literature

Published:2020-03-09 Issue:01 Volume:10 Page:057-062
ISSN:2146-4596
Container-title:Journal of Pediatric Genetics
language:en
Short-container-title:J Pediatr Genet

Author:

Iezzi Maria Laura¹,Varriale Gaia²,Zagaroli Luca²,Lasorella Stefania²,Greco Marco²,Iapadre Giulia²,Verrotti Alberto²

Affiliation:

1. Department of Pediatrics, Ospedale Civile San Salvatore, L'Aquila, Italy

2. Department of Pediatrics, University of L'Aquila, L'Aquila, Italy

Abstract

AbstractCongenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency represents a group of autosomal recessive disorders characterized by impaired cortisol production due to altered upstream steroid conversions, subclassified as classic and nonclassic forms. The genotype–phenotype correlation is possible in the most frequent case but not in all. Despite in literature many mutations are known, there is the possibility of finding a new genetic pattern in patients with CAH.

Publisher

Georg Thieme Verlag KG

Subject

Genetics(clinical),Pediatrics, Perinatology, and Child Health

Link

http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0040-1705110.pdf

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