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Prader- Willi syndrome: An uptodate on endocrine and metabolic complications

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Abstract

Prader-Willi syndrome (PWS) is a genetic disorder characterized by short stature, low lean body mass, muscular hypotonia, mental retardation, behavioral abnormalities, dysmorphic features, and excessive appetite with progressive obesity. It is caused by lack of expression of genes on the paternally inherited chromosome 15q11.2-q13. This genetic disorder has an estimated prevalence that ranges between 1/10,000–1/30,000. Hypothalamic dysfunction is a common finding in PWS and it has been implicated in several manifestations of this syndrome such as hyperphagia, temperature instability, high pain threshold, sleep disordered breathing, and multiple endocrine abnormalities. These include growth hormone deficiency, central adrenal insufficiency, hypogonadism, hypothyroidism, and obesity often complicated by type 2 diabetes. The aim of this manuscript is to overview the current literature on metabolic and endocrine complications of PWS, focusing on human studies and providing insights on the physio pathological mechanisms. A careful management of metabolic and endocrine complications can contribute to improve quality of life, prevent complications, and prolong life expectancy of PW patients.

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Authors and Affiliations

  1. Endocrinology Unit, Department of Clinical Medicine and Surgery, University Federico II, Via Sergio Pasini 5, 80121, Naples, Italy

    Giovanna Muscogiuri, Gabriella Pugliese, Elisabetta Scarano & Annamaria Colao

  2. Department of Medicine and Aging Sciences; Aging and Translational Medicine Research Center (CeSI-Met), G. d’Annunzio University, Chieti, Italy

    Gloria Formoso

  3. Department of Clinical and Experimental Medicine, Unit of Endocrinology, University of Messina, Messina, Italy

    Rosaria Maddalena Ruggeri

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Muscogiuri, G., Formoso, G., Pugliese, G. et al. Prader- Willi syndrome: An uptodate on endocrine and metabolic complications. Rev Endocr Metab Disord 20, 239–250 (2019). https://doi.org/10.1007/s11154-019-09502-2

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