Clinical characteristics, genetic spectrum and therapeutic effects of 51 male patients with idiopathic hypogonadotropic hypogonadism from southern China
Our study adds 51 southern Chinese male patients, and expands the mutational spectrum for IHH. Our cohort suggests that a combination of clinical, biochemical and genetic criteria will facilitate early diagnosis. Our work also highlights the differentially diagnostic values of family history, impaired olfactory function, CHARGE features, and basal AMH, FSH and LH in distinguishing different molecular bases of IHH.
Authors
- Xiaojian Mao (ORCID: https://orcid.org/0000-0002-4915-4903)
- Liyu Zhang (ORCID: https://orcid.org/0000-0002-6141-3154)
- Yunting Lin (ORCID: https://orcid.org/0000-0001-8974-357X)
- Huiying Sheng (ORCID: https://orcid.org/0000-0001-6901-8098)
- Jinhua Hu (ORCID: https://orcid.org/0000-0002-6991-4594)
- Cuili Liang (ORCID: https://orcid.org/0000-0001-5350-4892)
- Yanna Cai (ORCID: https://orcid.org/0000-0001-8734-5949)
- Li Liu (ORCID: https://orcid.org/0000-0002-4330-5694)
- Wen Zhang (ORCID: https://orcid.org/0000-0002-4003-1771)
- Xiuzhen Li (ORCID: https://orcid.org/0000-0002-5903-6839)
- Jing Cheng (ORCID: https://orcid.org/0000-0002-1434-7473)
- Wei Jia (ORCID: https://orcid.org/0000-0002-9423-0143)
- Li Duan (ORCID: https://orcid.org/0000-0002-3638-8102)
- Zhikun Lu (ORCID: https://orcid.org/0000-0003-4976-8259)
- Guochang Liu (ORCID: https://orcid.org/0000-0002-7445-8394)
- Huazhen Liu
- Wen Fu (ORCID: https://orcid.org/0009-0000-1459-5680)
- Xueying Su
Institutions
- Guangzhou Women and Children Medical Center (CN)
- Guangzhou Medical University (CN)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-11-12
- DOI
- https://doi.org/10.1186/s13023-025-04050-2
- Primary Topic
- Congenital Ear and Nasal Anomalies
- Type
- article
- Field-Weighted Citation Impact
- 0.00