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J Pediatr Genet 2021; 10(01): 057-062
DOI: 10.1055/s-0040-1705110
Case Report

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

Maria Laura Iezzi
1   Department of Pediatrics, Ospedale Civile San Salvatore, L'Aquila, Italy
,
Gaia Varriale
2   Department of Pediatrics, University of L'Aquila, L'Aquila, Italy
,
Luca Zagaroli
2   Department of Pediatrics, University of L'Aquila, L'Aquila, Italy
,
Stefania Lasorella
2   Department of Pediatrics, University of L'Aquila, L'Aquila, Italy
,
Marco Greco
2   Department of Pediatrics, University of L'Aquila, L'Aquila, Italy
,
Giulia Iapadre
2   Department of Pediatrics, University of L'Aquila, L'Aquila, Italy
,
Alberto Verrotti
2   Department of Pediatrics, University of L'Aquila, L'Aquila, Italy
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Abstract

Congenital 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.

Keywords

salt-wasting CAH - homozygous - CYP21A2 mutation - Q318X - R356W - R369Q


Publication History

Received: 08 October 2019

Accepted: 23 January 2020

Article published online:
09 March 2020

© 2020. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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