Hypogonadism in Women with Prader-Willi Syndrome-Clinical Recommendations Based on a Dutch Cohort Study, Review of the Literature and an International Expert Panel Discussion

Assumpta Caixàs i Pedragós, Karlijn Pellikaan, Yassine Ben Brahim, Anna G. W. Rosenberg, Kirsten Davidse, Christine Poitou, Muriel Coupaye, Anthony P. Goldstone, Charlotte Høybye, Tania P. Markovic, Graziano Grugni, Antonino Crinò, Talia Eldar-Geva, Harry J. Hirsch, Varda Gross-Tsur, Merlin G. Butler, Jennifer L. Miller, Paul-Hugo M. van der Kuy, Sjoerd A. A. van den Berg, Jenny A. VisserAart J. van der Lely, Laura C. G. de Graaff

Research output: Contribution to journalArticleResearchpeer-review

10 Citations (Scopus)

Abstract

Prader-Willi syndrome (PWS) is a rare neuroendocrine genetic syndrome. Characteristics of PWS include hyperphagia, hypotonia, and intellectual disability. Pituitary hormone deficiencies, caused by hypothalamic dysfunction, are common and hypogonadism is the most prevalent. Untreated hypogonadism can cause osteoporosis, which is already an important issue in PWS. Therefore, timely detection and treatment of hypogonadism is crucial. To increase understanding and prevent undertreatment, we (1) performed a cohort study in the Dutch PWS population, (2) thoroughly reviewed the literature on female hypogonadism in PWS and (3) provide clinical recommendations on behalf of an international expert panel. For the cohort study, we retrospectively collected results of a systematic health screening in 64 female adults with PWS, which included a medical questionnaire, medical file search, medical interview, physical examination and biochemical measurements. Our data show that hypogonadism is frequent in females with PWS (94%), but is often undiagnosed and untreated. This could be related to unfamiliarity with the syndrome, fear of behavioral changes, hygienic concerns, or drug interactions. To prevent underdiagnosis and undertreatment, we provide practical recommendations for the screening and treatment of hypogonadism in females with PWS.
Original languageEnglish
JournalJournal of Clinical Medicine
Volume10
DOIs
Publication statusPublished - 2021

Keywords

  • Prader-Willi syndrome
  • Hypogonadism
  • Hypothalamus
  • Pituitary gland
  • Estrogens
  • Menstrual cycle
  • Obesity
  • Puberty

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