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

Hong Chen1, Ke Yuan1, Bingtao Zhang2

  • 1Department of Pediatrics, The First Affiliated Hospital, College of Medicine Zhejiang University, Hangzhou, China.

Frontiers in Genetics
|November 8, 2019
PubMed
Summary

This study identifies novel compound heterozygous variants in the CYP17A1 gene causing 17α-hydroxylase/17,20-lyase deficiency (17-OHD), a form of congenital adrenal hyperplasia. These genetic mutations lead to a complete loss of enzyme activity, impacting cortisol synthesis and patient health.

Keywords:
17α-hydroxylase/17,20-lyase deficiencyCYP17A1 genecongenital adrenal hyperplasiarhabdomyolysisvariant

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