ArticleJournal of clinical medicine2021
Hypogonadism in Women with Prader-Willi Syndrome-Clinical Recommendations Based on a Dutch Cohort Study, Review of the Literature and an International Expert Panel Discussion.
Article in Journal of clinical medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 2 of them syntheses that pooled it.
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Who cites it
15 citing papers in PubMed, 2 syntheses or guidelines pooled it, 26 citations in OpenAlex.
- Dementia in Rare Genetic Neurodevelopmental Disorders: A Systematic Literature Review.Neurology · 2024Pooled it
- Kidney disease in adults with Prader-Willi syndrome: international cohort study and systematic literature review.Frontiers in endocrinology · 2023Pooled it
- Endocrine-informed monitoring of scoliosis in Prader-Willi syndrome: integrating neuroendocrine pathophysiology, growth hormone therapy, and pubertal transition.Frontiers in endocrinology · 2026Review
- Prader-Willi syndrome: guidance for children and transition into adulthood.Endocrine connections · 2024Article
- Endocrine features of Prader-Willi syndrome: a narrative review focusing on genotype-phenotype correlation.Frontiers in endocrinology · 2024Review
- Puberty in girls with Prader-Willi syndrome: cohort evaluation and clinical recommendations in a Latin American tertiary center.Frontiers in endocrinology · 2024Article
- Malignancies in Prader-Willi Syndrome: Results From a Large International Cohort and Literature Review.The Journal of clinical endocrinology and metabolism · 2023Review
- Central precocious puberty in Prader-Willi syndrome: a narrative review.Frontiers in endocrinology · 2023Review
- The transition from pediatric to adult care in individuals with Prader-Willi syndrome.Endocrine connections · 2023Review
- A rare occurrence of non-classic congenital adrenal hyperplasia and type 1 diabetes mellitus in a girl with Prader-Willi Syndrome: Case report and review of the literature.Frontiers in endocrinology · 2023Review
- Bone Health in Adults With Prader-Willi Syndrome: Clinical Recommendations Based on a Multicenter Cohort Study.The Journal of clinical endocrinology and metabolism · 2022Article
- Health Problems in Adults with Prader-Willi Syndrome of Different Genetic Subtypes: Cohort Study, Meta-Analysis and Review of the Literature.Journal of clinical medicine · 2022Article
- Hypothalamic syndrome.Nature reviews. Disease primers · 2022Review
- Hypothalamic syndrome.Nature reviews. Disease primers · 2022Review
- Genetic conditions of short stature: A review of three classic examples.Frontiers in endocrinology · 2022Review
Corrections and comments
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Authors and funding
22 authors at 12 institutions in 9 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Prader-Willi syndrome (PWS) is a rare neuroendocrine genetic syndrome. Characteristics of PWS include hyperphagia, hypotonia, and intellectual disability. Pituitary hormone deficiencies, caused by hypothalamic dysfunction, are common and hypogonadism is the most prevalent. Untreated hypogonadism can cause osteoporosis, which is already an important issue in PWS. Therefore, timely detection and treatment of hypogonadism is crucial. To increase understanding and prevent undertreatment, we (1) performed a cohort study in the Dutch PWS population, (2) thoroughly reviewed the literature on female hypogonadism in PWS and (3) provide clinical recommendations on behalf of an international expert panel. For the cohort study, we retrospectively collected results of a systematic health screening in 64 female adults with PWS, which included a medical questionnaire, medical file search, medical interview, physical examination and biochemical measurements. Our data show that hypogonadism is frequent in females with PWS (94%), but is often undiagnosed and untreated. This could be related to unfamiliarity with the syndrome, fear of behavioral changes, hygienic concerns, or drug interactions. To prevent underdiagnosis and undertreatment, we provide practical recommendations for the screening and treatment of hypogonadism in females with PWS.
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Registered trials
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