A case of 46, XY disorders of sexual development caused by the heterozygous mutation of DHX37 gene
10.3760/cma.j.cn101070-20210806-00929
- VernacularTitle:DHX37基因杂合突变致46，XY性发育异常1例
- Author:
Yu YANG
1
;
Hui HUANG
;
Tieniu WU
;
Li YANG
;
Liling XIE
;
Xia SHUAI
;
Ka CHEN
;
Xiangyu XIONG
Author Information
1. 南昌大学附属儿童医院（江西省儿童医院）内分泌遗传代谢科，江西省儿童遗传代谢性疾病临床医学研究中心，南昌 330006
- Keywords:
DHX37 gene mutation;
46, XY disorders of sexual development;
46, XY gonadal agenesis
- From:
Chinese Journal of Applied Clinical Pediatrics
2022;37(18):1413-1415
- CountryChina
- Language:Chinese
-
Abstract:
A clinical data, laboratory examination, genetic test results, diagnose and treatment of a patient with 46, XY disorders of sexual development (46, XY DSD) from a family of the Asp-Glu-Ala-His-box helicase 37 ( DHX37) gene mutation were retrospectively analyzed.The child was admitted in the Department of Genetics, Endocrinology and Metabolism, Jiangxi Children′s Hospital in June 2021.The DHX37 gene mutation was confirmed as a new pathogenic gene leading to 46, XY DSD in 2019.It is featured as autosomal dominant inheritance with incomplete externality.Its clinical manifestations are abnormal external genitalia, testicular degeneration insufficiency syndrome and gonadal insufficiency.This patient is the first 46, XY DSD case caused by the heterozygous variation of DHX37 gene c. 2020C>T (p.R674W) in China.This study can provide new ideas for diagnosis and treatment of 46, XY DSD children and reliable genetic evidence for family reproduction.
