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A Novel Compound Heterozygous CYP17A1 Variant Causes 17α-Hydroxylase/17, 20-Lyase Deficiency

Background: Congenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive diseases characterized by enzyme deficiencies, within steroid hormone anabolism, which lead to disorders in cortisol synthesis. The 17α-hydroxylase/17,20-lyase deficiency (17-OHD) is an uncommon form of CAH c...

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Hoofdauteurs: Hong Chen, Ke Yuan, Bingtao Zhang, Zexiao Jia, Chun Chen, Yilin Zhu, Yaping Sun, Hui Zhou, Wendong Huang, Li Liang, Qingfeng Yan, Chunlin Wang
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Frontiers Media S.A. 2019-10-01
Reeks:Frontiers in Genetics
Onderwerpen:
CYP17A1 gene
17α-hydroxylase/17,20-lyase deficiency
congenital adrenal hyperplasia
rhabdomyolysis
variant
Online toegang:https://www.frontiersin.org/article/10.3389/fgene.2019.00996/full
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