DHX37 gene heterozygous variant—a frequent cause of embryonic testicular regression syndrome
10.3760/cma.j.cn311282-20210831-00566
- VernacularTitle:DHX37基因杂合变异——胚胎睾丸退化综合征的常见病因
- Author:
Lili PAN
1
;
Zhe SU
;
Yanhua JIAO
;
Junjie SUN
;
Jianchun YIN
;
Hao WANG
;
Xianping JIANG
;
Shumin FAN
;
Hongtao QI
;
Rongfei ZHENG
;
Yue SHANG
Author Information
1. 深圳市儿童医院DSD多学科协作组 518038
- Keywords:
Embryonic testicular regression syndrome;
DHX37 gene;
46, XY gonadal dysgenesis
- From:
Chinese Journal of Endocrinology and Metabolism
2022;38(4):306-312
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To report embryonic testicular regression syndrome(ETRS) caused by DHX37 heterozygous variant for the first time in China and summarize the clinical manifestations of ETRS as to improve the understanding of doctors for this disease.Methods:The clinical data and whole exome sequencing results of five cases of ETRS from Shenzhen Children′s Hospital were collected. The reported cases of DHX37 heterozygous variant were reviewed.Results:Five patients with ETRS visited the doctors at the age of 2 months to 5 years and 5 months. Three patients raised as males came to hospital due to virilition and 2 female patients visited a doctor due to clitoral hypertrophy. No uterus was detected by ultrasound in all patients. The gonadal pathologies from 4 cases displayed no testicular tissue or gonadal dysgenesis, complicated with gonadoblastoma in one case. The genetic testing revealed that the heterozygous variant(c.923G>A, p. R308Q) in DHX37 was found in 2 cases, without variant in other 3 cases. According to the review, ETRS and 46, XY gonadal dysgenesis due to DHX37 herozygous variant was firstly reported in 2019. A total of 40 cases, including 21 cases of ETRS, presented with the virilition or female phenotype, with the disappearance of testicular tissue as the main pathologies. There is no report in China.Conclusion:The article summarized the clinical manifestations and whole exome sequencing results of 5 patients with ETRS, among which two cases were caused by DHX37 variants and one was complicated with gonadoblastoma.
