Which syndrome is associated with a child who has hypogonadism, mental retardation, short stature, and obesity?

Prepare for USMLE Step 1 Pathology Exam with comprehensive quizzes, flashcards, and detailed explanations. Enhance your understanding and be exam-ready!

Prader-Willi syndrome is characterized by a distinct set of clinical features that include hypogonadism, intellectual disability (previously referred to as mental retardation), short stature, and obesity. This syndrome results from the loss of function of paternal genes in a specific region of chromosome 15, which is commonly due to a deletion or uniparental disomy.

The hypogonadism observed in Prader-Willi syndrome manifests as underdeveloped gonads, leading to delayed or incomplete sexual maturation. Additionally, individuals often experience a heightened appetite and a tendency towards obesity due to hypothalamic dysfunction that regulates hunger and satiety. The cognitive impairment can range from mild to moderate intellectual disability, and growth hormone deficiency may also contribute to short stature.

Each of the other syndromes listed has different clinical features that do not align as closely with the combination of symptoms presented in the question. For example, Turner syndrome primarily involves females with characteristics like short stature, gonadal dysgenesis, and various physical anomalies, but does not typically include obesity as a primary feature. Noonan syndrome has its own set of features, including distinctive facial dysmorphisms and heart defects, but does not specifically match the obesity and hypogonadism profile seen in

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