Retrospective analysis of children with 46,XX testicular/ovotesticular DSD: a 10-year single-center experience
Compared to adults, children with 46,XX testicular/ovotesticular DSD were very different. <i>SRY</i>-negative children were predominant and tended to have more severe external genital abnormalities during childhood. Peripheral blood or tissue <i>SRY</i> mosaicism was not a prevalent cause and the intricate genetic pathways behind these cases were unknown. There were no statistical differences in hormone levels (LH, FSH, and T) between the different age groups. The assigned gender is mainly male, and the incidence of gonadal tumor risk markers was modest. During adolescence, their testosterone levels could normalize despite elevated FSH and LH levels.
Authors
- Yan Gong (ORCID: https://orcid.org/0000-0002-3562-971X)
- Xiaoqin Yin (ORCID: https://orcid.org/0000-0002-8985-8403)
- Wenyan Huang (ORCID: https://orcid.org/0000-0002-2197-0781)
- Qingxu Liu
- Shasha Zhou (ORCID: https://orcid.org/0000-0003-0396-9450)
- Sheng Guo
- Yan Li (ORCID: https://orcid.org/0000-0002-8290-8631)
- Fei Wang (ORCID: https://orcid.org/0000-0001-5297-0859)
- Ли Пин (ORCID: https://orcid.org/0000-0002-0095-7799)
- Jing Xu (ORCID: https://orcid.org/0000-0003-0847-4510)
- Yiqing Lyu
Institutions
- Shanghai Jiao Tong University (CN)
- Shanghai Children's Hospital (CN)
Publication Details
- Journal
- Frontiers in Endocrinology
- Published
- 2025-05-23
- DOI
- https://doi.org/10.3389/fendo.2025.1571467
- Citations
- 2
- Primary Topic
- Sexual Differentiation and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.61
Funders
- Science and Technology Commission of Shanghai Municipality