Abstract
Prader-Willi syndrome (PWS) is a complex genetic disorder, caused by lack of expression of genes on the paternally inherited chromosome 15q11.2-q13. In infancy it is characterized by hypotonia with poor suck resulting in failure to thrive. As the child ages, other manifestations such as developmental delay, cognitive disability, and behavior problems become evident. Hypothalamic dysfunction has been implicated in many manifestations of this syndrome including hyperphagia, temperature instability, high pain threshold, sleep disordered breathing, and multiple endocrine abnormalities. These include growth hormone deficiency, central adrenal insufficiency, hypogonadism, hypothyroidism, and complications of obesity such as type 2 diabetes mellitus. This review summarizes the recent literature investigating optimal screening and treatment of endocrine abnormalities associated with PWS, and provides an update on nutrition and food-related behavioral intervention. The standard of care regarding growth hormone therapy and surveillance for potential side effects, the potential for central adrenal insufficiency, evaluation for and treatment of hypogonadism in males and females, and the prevalence and screening recommendations for hypothyroidism and diabetes are covered in detail. PWS is a genetic syndrome in which early diagnosis and careful attention to detail regarding all the potential endocrine and behavioral manifestations can lead to a significant improvement in health and developmental outcomes. Thus, the important role of the provider caring for the child with PWS cannot be overstated.
Highlights
Prader-Willi syndrome (PWS) is a genetic disorder, with a prevalence of 1/10,000-1/30,000, resulting from lack of expression of genes on the paternally inherited chromosome 15q11.2-q13
We focus on current evidence regarding the endocrine manifestations and their management with the goal of optimizing long-term outcomes for children and adolescents with PWS
Beneficial effects of human growth hormone (hGH) therapy in adults with PWS when administered for 6 months to several years include decreased fat mass, increase in Lean body mass (LBM), and improved respiratory muscle function [44,45,46]
Summary
Prader-Willi syndrome (PWS) is a genetic disorder, with a prevalence of 1/10,000-1/30,000, resulting from lack of expression of genes on the paternally inherited chromosome 15q11.2-q13. Beneficial effects of hGH therapy in adults with PWS when administered for 6 months to several years include decreased fat mass, increase in LBM, and improved respiratory muscle function [44,45,46]. In a study of 55 children with PWS treated with GH for 4 years, IGF-1 levels increased significantly in the first year of therapy and decreased slightly at year 4 (mean SDS +2.1). A recent longitudinal study of gonadal function in 68 males with PWS ages 6 months to 16 years showed that inhibin B levels were normal in the prepubertal period, but decreased significantly with a concordant rise in follicle-stimulating hormone (FSH) after puberty onset. Prior to starting therapy: 1. Otolaryngology referral if there is a history of sleep disordered breathing, snoring, or enlarged tonsils or adenoids are present, with consideration of tonsillectomy and adenoidectomy
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