What question did this study set out to answer?

To review the current clinical, genetic, and endocrine findings in Prader-Willi syndrome to assist clinicians with early diagnosis and comprehensive disease management.

June 11, 2015Journal of Endocrinological InvestigationOpen Access

Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings

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To review the current clinical, genetic, and endocrine findings in Prader-Willi syndrome to assist clinicians with early diagnosis and comprehensive disease management.
Conducted an extensive review of the literature focused on the etiology, diagnosis, and management of Prader-Willi syndrome.
Synthesized evidence around clinical presentations, genetic testing strategies, and common endocrine complications encountered in practice.
Categorized the underlying genetics into paternal 15q11-q13 deletion (65–75%), maternal uniparental disomy 15 (20–30%), and imprinting defects (1–3%), with DNA methylation detecting all three classes.
Characterized age-dependent clinical transitions from infantile hypotonia and failure to thrive toward hyperphagia, developmental delay, and severe obesity secondary to hypothalamic dysfunction.
Documented multiple hypothalamic endocrine abnormalities, including growth hormone deficiency, thyroid-stimulating hormone deficiency, hypogonadism, and central adrenal insufficiency.

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Implication

Literature review summarizes clinical, genetic, and endocrine profiles in Prader-Willi syndrome, highlighting the essential role of early diagnosis to manage hypothalamic and metabolic complications.

Cite This Study

Angulo et al. (2015) studied this question.

synapsesocial.com/papers/6a7064256c240de38cdbc906 https://doi.org/10.1007/s40618-015-0312-9

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Implication

Literature review summarizes clinical, genetic, and endocrine profiles in Prader-Willi syndrome, highlighting the essential role of early diagnosis to manage hypothalamic and metabolic complications.

Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings

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Discussion

Implication

Cite This Study

Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings

Key Points

Discussion

Implication

Cite This Study

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