In-depth

Causes

Male hypogonadism

Tests and diagnosis

Genetic testing

Genetic testing is used to detect altered genes that may cause illness or disease. Although genetic testing can offer important health information, it has limitations.

April 21, 2017
References
  1. Driscoll DJ, et al. Prader-Willi syndrome. GeneReviews. https://www.ncbi.nlm.nih.gov/books/NBK1330/. Accessed Jan. 9, 2017.
  2. Prader Willi syndrome. National Organization for Rare Disorders. https://rarediseases.org/rare-diseases/prader-willi-syndrome/. Accessed Jan. 9, 2017.
  3. National Library of Medicine. Prader-Willi syndrome. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/prader-willi-syndrome. Accessed Jan. 9, 2017.
  4. Irizarry KA, et al. Prader Willi syndrome: Genetics, metabolomics, hormonal function, and new approaches to therapy. Advances in Pediatrics. 2016;63:47.
  5. Scheimann AO. Clinical features, diagnosis, and treatment of Prader-Willi syndrome. http://www.uptodate.com/home. Accessed Jan. 9, 2017.
  6. Scheimann AO. Epidemiology and genetics of Prader-Willi syndrome. http://www.uptodate.com/home. Accessed Jan. 9, 2017.
  7. Angulo MA, et al. Prader-Willi syndrome: A review of clinical, genetic, and endocrine findings. Journal of Endocrinological Investigation. 2015;38:1249.
  8. Tvrdik T, et al. Stress and coping in parents of children with Prader-Willi syndrome: Assessment of the impact of a structured plan of care. American Journal of Medical Genetics. 2015;167:974.
  9. Mazaheri MM, et al. The impact of Prader-Willi syndrome on the family's quality of life and caregiving, and the unaffected siblings' psychosocial adjustment. Journal of Intellectual Disability Research. 2013;57:861.
  10. Hurren BJ, et al. Prader-Willi syndrome: A spectrum of anatomical and clinical features. Clinical Anatomy. 2016;29:590.
  11. Lteif AN (expert opinion). Mayo Clinic, Rochester, Minn. Feb. 9, 2017.