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.
Highlights
Prader-Willi syndrome (PWS) is a rare, complex, neuroendocrine syndrome with an estimated prevalence of 1:10,000–1:30,000 [1]
Hypogonadism was present in most females with PWS in our cohort (94%) and was often undiagnosed (34%) and untreated
One study showed that anti-Müllerian hormone (AMH) levels in girls with PWS were significantly lower compared to controls, while a similar assay was used in all three studies [24]
Summary
Prader-Willi syndrome (PWS) is a rare, complex, neuroendocrine syndrome with an estimated prevalence of 1:10,000–1:30,000 [1]. PWS is an imprinting disorder caused by the lack of expression of a cluster of paternally expressed genes on chromosome 15q11-13. The most common genetic abnormalities are: a paternal deletion (60–75%), a maternal uniparental disomy 15 (mUPD, 20–35%), an imprinting center defect (ICD, 1–4%) or a paternal chromosomal translocation (0.1%) [2,3]. Features of adults with PWS include hypotonia, mild to moderate intellectual disability, dysmorphic features and hypothalamic dysfunction, leading to hyperphagia and early-childhood onset obesity (if uncontrolled), sleep disorders, abnormal temperature regulation, high pain threshold, and pituitary hormone deficiencies (PHD) [1,4,5,6,7]. Patients with PWS may display challenging behavior, and the prevalence of psychosis is increased, especially in patients with mUPD [8,9,10,11]. We previously reported on hypogonadism in men with PWS [12], in this study we focused on hypogonadism in women with PWS
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