Clinical and genetic analysis of a patient with 17-hydroxylase/17,20-lyase deficiency.

Author: Yu ZENG ¹ ; Libin MEI ; Lei LIANG ; Xuemei HE ; Haijie GAO ; Shaobin LIN ; Lingling HUANG ; Ping LI
Author Information

1. Xiamen Maternal and Child Health Care Hospital, Women and Children's Hospital Affiliated to Xiamen University, Xiamen Key Laboratory of Reproductive Genetics, Xiamen, Fujian 361003, China. pingli 7900@sina.com.
Publication Type:Journal Article
From: Chinese Journal of Medical Genetics 2020;37(9):997-1000
CountryChina
Language:Chinese
Abstract: OBJECTIVE:To explore the clinical and genetic characteristics of a patient with 17-hydroxylase/17,20-lyase deficiency.
METHODS:The patient was infertile without contraception. Laboratory examination showed her chromosomal karyotype to be 46, XX. DNA sequencing was performed to detect variants of CYP17A1 gene in the patient and her family members.
RESULTS:Sanger sequencing revealed that the patient has carried homozygous variant c.1486C>T in the exon 8 of the CYP17A1 gene, which resulted in substitution of arginine by cysteine (p.Arg496Cys). Her family members were all heterozygotes for the same variant.
CONCLUSION:Homozygous variant of the CYP17A1 gene c.1486C>T probably underlay the 17-hydroxylase deficiency in this patient. Above finding has enabled accurate genetic counseling and prenatal diagnosis for her family.