Clinical and genetic analysis of 17α-hydroxylase/17,20-lyase deficiency in children
CHU Shanshan
WANG Dandan
YUAN Xuewen
GU Wei
Abstract：Objective To analyze the clinical manifestations of 17α-hydroxylase/17,20-lyase deficiency(17OHD)and CYP17A1 gene mutation characteristics.Methods We collected the clinical data,laboratory test results and CYP17A1 gene mutation status of 6 children with 17OHD who were admitted from June 2020 to December 2024,and summarized the clinical characteristics of 17OHD.Results Among the 6 children,5 had a social gender of female and 1 had a social gender of male.Four of them had onset during puberty,while 5 had peripheral blood karyotype of 46,XY,and 1 had 46,XX.Five had female genital phenotypes and pre-adolescent immature vulvas,and only 1 had insufficient male genitalia(short penis,downward curvature,hypospadias,cryptorchidism,and split scrotum).Two had low blood potassium levels,3 had pigmentation on the skin and mucous membranes,and 4 had hypertension.All the children's laboratory tests showed low estrogen and testosterone levels,high progesterone levels,normal 17-hydroxyprogesterone levels,and hypogonadotropic gonadal dysfunction.The 3 children with normal basal cortisol levels had no hyperplasia on adrenal CT,and further examination suggested adrenal cortical insufficiency.The CYP17A1 gene mutation analysis showed that 4 patients had a deletion mutation in exon 6,among which 1 case was a homozygous mutation of c.985_987delTACinsAA(p.Y329KfsTer90).One patient carried a heterozygous mutation in exon 5,and 1 carried a splicing mutation in exon 7.To our knowledge,these cases had not been reported previously,and the pathogenicity was predicted with uncertain significance based on the guidelines of the American College of Medical Genetics and Genomics.Conclusion 17OHD rarely causes adrenal crisis,so it is prone to missed diagnosis or misdiagnosis.For children with hypokalemia accompanied by hypertension,hypergonadotropic hypogonadism and delayed puberty development,17OHD should be vigilantly suspected.This study identified novel missense mutations and splicing mutations,and the clinical manifestations suggested a possible association with partial 17OHD.Analyzing the clinical characteristics of 17OHD patients can help in early detection and timely identification,thus avoiding misdiagnosis and mistreatment.
Keywords：17α-hydroxylase/1720-lyase deficiencychildhypokalemiahypertensionhypogonadismgene mutationCYP17A1 Gene
Publication Date：2026-03-13
Online Publishing Date：2026-03-20(First online date of this platform, not the publication date of the document)
Pages：7( 37-43 )