NEUROENDOCRINE DISORDERS IN PRADER-WILLI SYNDROME: FROM MOLECULAR MECHANISMS TO CLINICAL PRACTICE
DOI:
https://doi.org/10.21856/j-PEP.2026.2.08Keywords:
Prader-Willi syndrome, SNORD116 RNA, pathogenesis, neuroendocrine system, reviewAbstract
Prader-Willi syndrome (PWS) is a rare genetic disease belonging to adjacent genes syndromes, caused by abnormal DNA methylation in the Prader-Willi critical region (PWCR) in 15q11.2-q13 region. Three main mechanisms are distinguished in its pathogenesis: genetic, molecular and physiological. The endocrine profile of PWS patients is characterized by polyglandular endocrinopathy: somatotropic insufficiency (90% of cases); hypogonadotropic hypogonadism with a possible combination with primary gonad lesions; central hypothyroidism. Special attention should be paid to latent adrenal insufficiency, which causes sudden death in stressful situations.
The article presents a review of the current literature on the overall prevalence, mortality, pathogenesis, neuroendocrine disorders, modern diagnostic and therapeutic options. A systematic search of literature sources was carried out in the databases Scopus, PubMed, Web of Science, Embase, the Cochrane Library, MedLine.
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Copyright (c) 2026 Сорокіна І. В., Наумова О. В., Титов Є. В., Калужина-Білецька О. В., Загребельська А. В., Корнейко І. В.
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