Details

Autor(en) / Beteiligte

• Lin, H
• Yang, H
• Fu, J F
• Yuan, K
• Huang, W
• Wu, G P
• Dong, G J
• Tian, D H
• Wu, D X
• Tang, D W
• Wu, L Y
• Sun, Y L
• Pi, L J
• Liu, L P
• Shi, W
• Gu, L G
• Huang, Z H
• Wang, L Q
• Chen, H Y
• Li, Y
• Yu, H Y
• Wei, X R
• Cheng, X O
• Shan, Y
• Liu, X
• Xu, S
• Liu, X P
• Luo, Y F
• Xiao, Y
• Yang, G M
• Li, M
• Feng, X Q
• Ma, D X
• Pan, J Y
• Tang, R M
• Chen, Ruimin
• Maimaiti, D Y
• Liu, X H
• Cui, Z
• Su, Z Q
• Dong, L
• Zou, Y L
• Liu, J
• Wu, K X
• Li, Yuan

Titel

Analysis of clinical phenotype and genotype of Chinese children with disorders of sex development

Ist Teil von

• Zhonghua er ke za zhi, 2022-05, Vol.60 (5), p.435

Ort / Verlag

China

Erscheinungsjahr

2022

Quelle

MEDLINE

Beschreibungen/Notizen

• To explore the heterogeneity and correlation of clinical phenotypes and genotypes in children with disorders of sex development (DSD). 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. 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).