Endocrine features of Prader-Willi syndrome: a narrative review focusing on genotype-phenotype correlation.

ABSTRACT: Prader-Willi syndrome (PWS) is a complex genetic disorder caused by three different types of molecular genetic abnormalities. The most common defect is a deletion on the paternal 15q11-q13 chromosome, which is seen in about 60% of individuals. The next most common abnormality is maternal disomy 15, found in around 35% of cases, and a defect in the imprinting center that controls the activity of certain genes on chromosome 15, seen in 1-3% of cases. Individuals with PWS typically experience issues with the hypothalamic-pituitary axis, leading to excessive hunger (hyperphagia), severe obesity, various endocrine disorders, and intellectual disability. Differences in physical and behavioral characteristics between patients with PWS due to deletion versus those with maternal disomy are discusse

SUBMITTER: Madeo SF 

PROVIDER: S-EPMC11082343 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature