一例具有三重纯合突变的失盐型先天性肾上腺皮质增生症：文献综述
A Case of Salt-Wasting Congenital Adrenal Hyperplasia with Triple Homozygous Mutation: Review of Literature.
作者信息
Iezzi Maria Laura, Varriale Gaia, Zagaroli Luca, Lasorella Stefania, Greco Marco, Iapadre Giulia, Verrotti Alberto
机构信息
Department of Pediatrics, Ospedale Civile San Salvatore, L'Aquila, Italy.
Department of Pediatrics, University of L'Aquila, L'Aquila, Italy.
出版信息
J Pediatr Genet. 2021 Mar;10(1):57-62. doi: 10.1055/s-0040-1705110. Epub 2020 Mar 9.
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.
摘要
由于类固醇21-羟化酶缺乏所致的先天性肾上腺皮质增生（CAH）是一组常染色体隐性疾病，其特征是上游类固醇转化改变导致皮质醇生成受损，分为经典型和非经典型。在最常见的病例中，基因型与表型之间存在相关性，但并非所有病例都是如此。尽管文献中已知许多突变，但仍有可能在CAH患者中发现新的遗传模式。
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