Wolfram syndrome in a young woman with associated hypergonadotropic hypogonadism – A case report
Author:
Affiliation:
1. Pediatric Endocrinology, Gynecology and Diabetology Department , Necker Hospital , Paris , France
2. Obstetrics and Gynecology Department , University of Montreal , Montreal , Canada
Abstract
Publisher
Walter de Gruyter GmbH
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health
Link
https://www.degruyter.com/document/doi/10.1515/jpem-2022-0268/pdf
Reference10 articles.
1. Rigoli, L, Bramanti, P, Di Bella, C, De Luca, F. Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease. Pediatr Res 2018;83:921–9. https://doi.org/10.1038/pr.2018.17.
2. Rigoli, L, Aloi, C, Salina, A, Di Bella, C, Salzano, G, Caruso, R, et al.. Wolfram syndrome 1 in the Italian population: genotype–phenotype correlations. Pediatr Res 2020;87:456–62. https://doi.org/10.1038/s41390-019-0487-4.
3. Urano, F. Wolfram syndrome: diagnosis, management, and treatment. Curr Diabetes Rep 2016;16:1–8. https://doi.org/10.1007/s11892-015-0702-6.
4. Das, L, Rai, A, Mavuduru, R, Vaiphei, K, Sharma, A, Gupta, V, et al.. Wolfram syndrome: clinical and genetic profiling of a cohort from a tertiary care centre with characterization of the primary gonadal failure. Endocrine 2020;69:420–9. https://doi.org/10.1007/s12020-020-02320-6.
5. Homan, MR, MacKay, BR. Primary hypogonadism in two siblings with Wolfram syndrome. Diabetes Care 1987;10:664–5. https://doi.org/10.2337/diacare.10.5.664.
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Paediatric Wolfram syndrome Type 1: should gonadal dysfunction be part of the diagnostic criteria?;Frontiers in Endocrinology;2023-06-13
2. Wolfram Syndrome 1: A Pediatrician’s and Pediatric Endocrinologist’s Perspective;International Journal of Molecular Sciences;2023-02-12
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