Endocrine Consequences of Prader-Willi Syndrome

Abstract

Prader-Willi Syndrome has an estimated birth incidence of 1 in 10,000-30,000 people and affects male and females equally. The rare genetic disorder is caused by absent expression of the paternally-inherited genes on chromosome 15q11.2-q13 and presents implications on the endocrine system from early life as a result of associated hypothalamic dysfunction. Patients with Prader-Willi Syndrome experience endocrine disorders such as hypogonadism, hypothyroidism, adrenal insufficiency, and poor bone mineral density. The features of Prader-Willi Syndrome are also consistent with those of growth hormone deficiency; patients also present with short stature and growth deceleration. Those with Prader-Willi Syndrome are also at a higher risk of obesity, owing to their lower resting energy expenditure and lack of satiety, as well as 2 diabetes mellitus and metabolic syndrome. Accordingly, individuals with Prader-Willi Syndrome should be advised and monitored by an endocrinologist throughout their lifespan. This collection aims to present up-to-date research relating to the presentation, diagnosis, treatment, and risk-factors of endocrine disorders in patients with Prader-Willi Syndrome. Submissions may include, but are not limited to, reviews, original research , or other accepted articles relating to: - Presentation of endocrine dysfunction in patients with Prader-Willi Syndrome; - Specific risk-factors of endocrine dysfunction in patients with Prader-Willi Syndrome; - Management or treatment of endocrine disorders in patients with Prader-Willi Syndrome - Tools for the diagnosis of endocrine disorders in patients with Prader-Willi Syndrome - Endocrine dysfunction in patients with Prader-Willi Syndrome and comorbidities.