- VernacularTitle:中国性发育异常患儿临床表型与基因型分析
- Author:
Hu LIN
1
;
Hao YANG
2
;
Jun Fen FU
1
;
Jin Na YUAN
1
;
Ke HUANG
1
;
Wei WU
1
;
Guan Ping DONG
1
;
Hong Juan TIAN
2
;
De Hua WU
2
;
Da Xing TANG
2
;
Ding Wen WU
3
;
Li Ying SUN
4
;
Ya Lei PI
5
;
Li Jun LIU
6
;
Li Ping SHI
7
;
Wei GU
8
;
Lu Gang HUANG
9
;
Yi Hua WANG
10
;
Lin Qi CHEN
11
;
Hong Ying LI
12
;
Yang YU
13
;
Hai Yan WEI
14
;
Xin Ran CHENG
15
;
Xiao Ou SHAN
16
;
Yu LIU
17
;
Xu XU
18
;
Shu LIU
19
;
Xiao Ping LUO
20
;
Yan Feng XIAO
21
;
Yu YANG
22
;
Gui Mei LI
23
;
Mei FENG
24
;
Xiu Qi MA
25
;
Dao Xiang PAN
26
;
Jia Yan TANG
27
;
Rui Min CHEN
28
;
Mireguli MAIMAITI
29
;
De Yun LIU
30
;
Xin Hai CUI
31
;
Zhe SU
32
;
Zhi Qiao DONG
33
;
Li ZOU
34
;
Yan Ling LIU
35
;
Jin WU
36
;
Kun Xia LI
37
;
Yuan LI
38
Author Information
- Publication Type:Journal Article
- MeSH: 3-Oxo-5-alpha-Steroid 4-Dehydrogenase/genetics*; Child; China/epidemiology*; Cryptorchidism/genetics*; Disorders of Sex Development/genetics*; Female; Genital Diseases, Male; Genotype; Humans; Hypospadias/genetics*; Male; Membrane Proteins/genetics*; Penis/abnormalities*; Phenotype; Retrospective Studies; Steroid 21-Hydroxylase/genetics*
- From: Chinese Journal of Pediatrics 2022;60(5):435-441
- CountryChina
- Language:Chinese
- Abstract: Objective: To explore the heterogeneity and correlation of clinical phenotypes and genotypes in children with disorders of sex development (DSD). Methods: A retrospective study of 1 235 patients with clinically proposed DSD in 36 pediatric medical institutions across the country from January 2017 to May 2021. After capturing 277 DSD-related candidate genes, second-generation sequencing was performed to analyzed the heterogeneity and correlation combined with clinical phenotypes. Results: Among 1 235 children with clinically proposed DSD, 980 were males and 255 were females of social gender at the time of initial diagnosis with the age ranged from 1 day of age to 17.92 years. A total of 443 children with pathogenic variants were detected through molecular genetic studies, with a positive detection rate of 35.9%. The most common clinical phenotypes were micropenis (455 cases), hypospadias (321 cases), and cryptorchidism (172 cases) and common mutations detected were in SRD5A2 gene (80 cases), AR gene (53 cases) and CYP21A2 gene (44 cases). Among them, the SRD5A2 mutation is the most common in children with simple micropenis and simple hypospadias, while the AMH mutation is the most common in children with simple cryptorchidism. Conclusions: The SRD5A2 mutation is the most common genetic variant in Chinese children with DSD, and micropenis, cryptorchidism, and hypospadias are the most common clinical phenotypes. Molecular diagnosis can provide clues about the biological basis of DSD, and can also guide clinicians to perform specific clinical examinations. Target sequence capture probes and next-generation sequencing technology can provide effective and economical genetic diagnosis for children with DSD.