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

被引：2
|
作者：
Iezzi, Maria Laura [1 ]
Varriale, Gaia [2 ]
Zagaroli, Luca [2 ]
Lasorella, Stefania [2 ]
Greco, Marco [2 ]
Iapadre, Giulia [2 ]
Verrotti, Alberto [2 ]
机构：
[1] Osped Civile San Salvatore, Dept Pediat, Laquila, Italy
[2] Univ Aquila, Dept Pediat, Laquila, Italy
来源：
JOURNAL OF PEDIATRIC GENETICS | 2021年 / 10卷 / 01期
关键词：
salt-wasting CAH; homozygous; Q318X; R356W; R369Q;
D O I：
10.1055/s-0040-1705110
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
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.
引用
收藏
页码：57 / 62
页数：6
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