Clinical and genetic analysis of 46, XY partial gonadal dysgenesis caused by DHX37 mutation: One case report and literature review

VernacularTitle:DHX37基因突变导致46，XY部分型性腺发育不良一例的临床及遗传学分析并文献复习
Author: Haibo LU ¹ ; Huifang PENG ; Jinshuang GAO ; Yujin MA ; Liping LI ; Ying WANG ; Hongwei JIANG
Author Information

1. 河南科技大学临床医学院，河南科技大学第一附属医院内分泌代谢科，国家代谢病临床医学研究中心分中心，河南省遗传罕见病医学重点实验室，洛阳　471003
Keywords: Disorders/differences of sex development; Gonadal dysgenesis; DHX 37; Ribosomopathy
From: Chinese Journal of Endocrinology and Metabolism 2022;38(3):249-252
CountryChina
Language:Chinese
Abstract: One case of 46, XY partial gonadal dysgenesis due to a congenital defect of DEAH-box RNA helicase 37(DHX37) was reported. The clinical and genetic data of a boy who was admitted to the Department of Endocrinology and Metabolism, the First Affiliated Hospital of Henan University of Science and Technology due to ambiguous external genitalia in September 2020 were collected and analyzed. This 3-month-old male patient showed a micropenis, bilateral cryptorchidism, 46, XY karyotype, a decrease in testosterone, anti-Müllerian hormone, inhibin B, an increase in follicle stimulating hormone. Testis biopsy indicated gonadal dysgenesis. The proband harbored a de novo heterozygous mutation in the DHX37 gene c. 923G>A(p.Arg308Gln). DHX37 variants need to be considered for 46, XY gonadal dysgenesis.