Hypogonadism in Adult Males with Prader-Willi Syndrome-Clinical Recommendations Based on a Dutch Cohort Study, Review of the Literature and an International Expert Panel Discussion

Prader-Willi syndrome (PWS) is a complex genetic syndrome characterized by hyperphagia, intellectual disability, hypotonia and hypothalamic dysfunction. Adults with PWS often have hormone deficiencies, hypogonadism being the most common. Untreated male hypogonadism can aggravate PWS-related health i...

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Detalles Bibliográficos
Autores: Pellikaan, Karlijn|||0000-0002-0738-0275, Ben Brahim, Yassine, Rosenberg, Anna G. W|||0000-0002-8333-1512, Davidse, Kirsten, Poitou, Christine|||0000-0001-7769-6331, Coupaye, Muriel|||0000-0002-8988-6260, Goldstone, Anthony|||0000-0001-8179-7071, Høybye, Charlotte|||0000-0002-3980-1927, Markovic, Tania|||0000-0003-2521-0357, Grugni, Graziano|||0000-0003-4708-2544, Crinò, Antonino|||0000-0003-3548-7114, Caixàs i Pedragós, Assumpta|||0000-0001-8472-9189, Eldar-Geva, Talia, Hirsch, Harry|||0000-0002-7499-4023, Gross-Tsur, Varda, Butler, Merlin|||0000-0002-2911-0524, Miller, Jennifer L., van den Berg, Sjoerd A. A., van der Lely, Aart J|||0000-0002-1059-0126, de Graaff, Laura|||0000-0002-0295-7063
Tipo de recurso: artículo
Fecha de publicación:2021
País:España
Institución:Universitat Autònoma de Barcelona
Repositorio:Dipòsit Digital de Documents de la UAB
Idioma:inglés
OAI Identifier:oai:ddd.uab.cat:283308
Acceso en línea:https://ddd.uab.cat/record/283308
https://dx.doi.org/urn:doi:10.3390/jcm10194361
Access Level:acceso abierto
Palabra clave:Hypogonadism
Obesity
Pituitary gland
Prader-Willi syndrome
Puberty
Testosterone
Descripción
Sumario:Prader-Willi syndrome (PWS) is a complex genetic syndrome characterized by hyperphagia, intellectual disability, hypotonia and hypothalamic dysfunction. Adults with PWS often have hormone deficiencies, hypogonadism being the most common. Untreated male hypogonadism can aggravate PWS-related health issues including muscle weakness, obesity, osteoporosis, and fatigue. Therefore, timely diagnosis and treatment of male hypogonadism is important. In this article, we share our experience with hypogonadism and its treatment in adult males with PWS and present a review of the literature. In order to report the prevalence and type of hypogonadism, treatment regimen and behavioral issues, we retrospectively collected data on medical interviews, physical examinations, biochemical measurements and testosterone replacement therapy (TRT) in 57 Dutch men with PWS. Fifty-six (98%) of the patients had either primary, central or combined hypogonadism. Untreated hypogonadism was associated with higher body mass index and lower hemoglobin concentrations. TRT was complicated by behavioral challenges in one third of the patients. Undertreatment was common and normal serum testosterone levels were achieved in only 30% of the patients. Based on the Dutch cohort data, review of the literature and an international expert panel discussion, we provide a practical algorithm for TRT in adult males with PWS in order to prevent undertreatment and related adverse health outcomes.

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