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Prader-Willi syndrome: Hormone therapies
Maithé Tauber1, Gwenaelle Diene1
1Centre de Référence du Syndrome de Prader-Willi, Hôpital des Enfants, CHU Toulouse, Toulouse, France.
Handbook of Clinical Neurology
|July 9, 2021
Summary
Prader-Willi syndrome (PWS) is a rare genetic disorder affecting hypothalamic function, leading to hormonal issues and behavioral challenges. Research explores treatments targeting oxytocin and ghrelin systems to improve PWS patient outcomes.
Area of Science:
- Genetics
- Neuroendocrinology
- Developmental Biology
Background:
- Prader-Willi syndrome (PWS) is a rare genetic disorder caused by the absence of paternally inherited genes on chromosome 15q11-q13.
- Hypothalamic dysfunction is central to PWS, driving a complex phenotype including feeding, hormonal, and behavioral abnormalities.
Purpose of the Study:
- To review the hypothalamic dysfunction in Prader-Willi syndrome.
- To discuss current and emerging therapeutic strategies for PWS.
- To highlight PWS as a model for understanding hypothalamic disorders.
Main Methods:
- Literature review of PWS genetics, phenotype, and treatment.
- Analysis of endocrine and neurobehavioral aspects of PWS.
- Overview of current hormonal replacement therapies and investigational treatments.
Main Results:
- PWS involves significant endocrine dysfunction, including growth hormone deficiency, hypogonadism, central hypothyroidism, and precocious adrenarche.
- Impairments in oxytocin and ghrelin systems contribute to feeding issues, poor suckling, and behavioral deficits in PWS.
- Recombinant human GH treatment has significantly improved the PWS phenotype.
Conclusions:
- PWS serves as a crucial model for studying hypothalamic dysfunction.
- Targeted therapies for oxytocin and ghrelin systems show promise for PWS treatment.
- Comprehensive management of PWS requires addressing hormonal, behavioral, and neurodevelopmental aspects.
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