Defining Puberty and Spectrum of Hypogonadism in Alström Syndrome
Our study sheds light on the reproductive aspects of AS across pediatric and adult populations with particular emphasis on testicular and pubertal development, and hypogonadism in adult life. Although, all the pediatric patients with AS have age-appropriate onset of puberty, almost all exhibit hypogonadism with primary gonadal failure as adults. This mirrors the Alms1 S701X mouse model.
Authors
- Tarekegn Geberhiwot (ORCID: https://orcid.org/0000-0002-3629-2338)
- Richard Paisey (ORCID: https://orcid.org/0000-0002-7790-2569)
- Shanat Baig (ORCID: https://orcid.org/0000-0003-1625-6839)
- Guoying Chang (ORCID: https://orcid.org/0000-0003-0701-3544)
- Timothy Barrett (ORCID: https://orcid.org/0000-0002-6873-0750)
- Charlotte Dawson (ORCID: https://orcid.org/0000-0001-9974-1244)
- Pietro Maffei (ORCID: https://orcid.org/0000-0002-1717-263X)
- Melanie Kershaw (ORCID: https://orcid.org/0009-0009-6504-477X)
- Francesca Dassie (ORCID: https://orcid.org/0000-0003-1757-5399)
- Victoria Homer (ORCID: https://orcid.org/0000-0003-3639-7874)
- Sadaf Ali (ORCID: https://orcid.org/0000-0001-6768-5495)
- Gabriela da Silva Xavier (ORCID: https://orcid.org/0000-0002-0678-012X)
- Paul A. Gleeson (ORCID: https://orcid.org/0000-0002-5336-6503)
- Xiumin Wang (ORCID: https://orcid.org/0000-0002-2186-759X)
- Qianwen Zhang (ORCID: https://orcid.org/0000-0002-0646-3415)
- Yijun Tang (ORCID: https://orcid.org/0000-0003-4207-1694)
- Adrian Warfield
- Libo Wang
- Ijeoma Anwunah
Institutions
- University of Padua (IT)
- Queen Elizabeth Hospital Birmingham (GB)
- Shanghai Children's Medical Center (CN)
- Birmingham Women's Hospital (GB)
- Birmingham Children's Hospital (GB)
- Queen Elizabeth Hospital (GB)
- Cancer Research UK Clinical Trials Unit (GB)
- ERN GUARD-Heart (NL)
- Azienda Ospedale - Università Padova (IT)
- Torbay and South Devon NHS Foundation Trust (GB)
- NIHR Birmingham Biomedical Research Centre (GB)
- Endo-ERN (NL)
- University of Birmingham (GB)
Publication Details
- Journal
- The Journal of Clinical Endocrinology & Metabolism
- Published
- 2025-06-13
- DOI
- https://doi.org/10.1210/clinem/dgaf356
- Citations
- 3
- Primary Topic
- Genetic Syndromes and Imprinting
- Type
- article
- Field-Weighted Citation Impact
- 5.45
Funders
- University Hospitals Birmingham NHS Foundation Trust
- National Institute for Health and Care Research
- National Natural Science Foundation of China
- National Lottery Community Fund
- National Key Research and Development Program of China