Hypogonadism in Patients with Prader Willi Syndrome: A Narrative Review

Napolitano, Luigi; Barone, Biagio; Morra, Simone; Celentano, Giuseppe; Rocca, Roberto La; Capece, Marco; Morgera, Vincenzo; Turco, Carmine; Caputo, Vincenzo; Spena, Gianluca; Romano, Lorenzo; Luca, Luigi De; Califano, Gianluigi; Ruvolo, Claudia Collà; Mangiapia, Francesco; Mirone, Vincenzo; Longo, Nicola; Creta, Massimiliano

doi:10.3390/ijms22041993

Cited by 33 publications

(31 citation statements)

References 72 publications

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“…However, the latest studies show a more complex phenotype in patients with PWS than had been established before. We are now more aware of heterogeneity of gonadal dysfunction, both hypogonadotropic and primary gonadal [ 10 , 11 , 12 , 13 ]. There are also studies confirming frequent premature adrenarche which does not influence the central puberty course or recombinant human growth hormone (rhGH) effectiveness [ 14 ].…”

Section: Introductionmentioning

confidence: 99%

Correlation of Genotype and Perinatal Period, Time of Diagnosis and Anthropometric Data before Commencement of Recombinant Human Growth Hormone Treatment in Polish Patients with Prader–Willi Syndrome

et al. 2021

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Genotype–phenotype correlation in patients with Prader–Willi syndrome (PWS) has still not been fully described. We retrospectively analysed data of 147 patients and compared groups according to genetic diagnosis: paternal deletion of chromosome 15q11-q13 (DEL 15, n = 81), maternal uniparental disomy (UPD 15, n = 10), excluded DEL 15 (UPD 15 or imprinting centre defect, UPD/ID, n = 30). Group DEL 15 had an earlier genetic diagnosis and recombinant human growth hormone (rhGH) start (p = 0.00), with a higher insulin-like growth factor 1 (IGF1) level compared to group UPD/ID (p = 0.04). Among perinatal characteristics, there was only a tendency towards lower birth weight SDS in group UPD 15 (p = 0.06). We also compared data at rhGH start in relation to genetic diagnosis age—group 1: age ≤9 months, group 2: >9 months ≤ 2 years, group 3: > 2 years. Group 1 had the earliest rhGH start (p = 0.00), with lower body mass index (BMI) SDS (p = 0.00) and a tendency towards a higher IGF1 level compared to group 3 (p = 0.05). Genetic background in children with PWS is related to time of diagnosis and rhGH start, with a difference in IGF1 level before the therapy, but it seems to have little impact on perinatal data. Early genetic diagnosis leads to early rhGH treatment with favourable lower BMI SDS.

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Section: Introductionmentioning

confidence: 99%

Correlation of Genotype and Perinatal Period, Time of Diagnosis and Anthropometric Data before Commencement of Recombinant Human Growth Hormone Treatment in Polish Patients with Prader–Willi Syndrome

et al. 2021

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“…Although PWS is characterized by its hypothalamic dysfunction, hypogonadism in PWS can also be of testicular origin. MKRN3, NDN , and SNORD116 , genes that are located in the PWS critical region, have been associated with GnRH secretion and hypothalamic dysfunction leading to hypogonadism [ 39 ]. Testicular dysfunction in men with PWS could be related to abnormal histology of the tubules and absence of spermatogonia [ 20 , 40 , 41 ].…”

Section: Discussionmentioning

confidence: 99%

“…To our knowledge, we are the first to provide a practical flowchart for the screening and treatment of hypogonadism in males with PWS [ 39 ]. Another strength of our study is the relatively large cohort, given the fact that PWS is a rare syndrome.…”

Section: Discussionmentioning

confidence: 99%

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

Pellikaan

Brahim

Rosenberg

et al. 2021

JCM

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Prader–Willi syndrome (PWS) is a complex genetic syndrome characterized by hyperphagia, intellectual disability, hypotonia and hypothalamic dysfunction. Adults with PWS often have hormone deficiencies, hypogonadism being the most common. Untreated male hypogonadism can aggravate PWS-related health issues including muscle weakness, obesity, osteoporosis, and fatigue. Therefore, timely diagnosis and treatment of male hypogonadism is important. In this article, we share our experience with hypogonadism and its treatment in adult males with PWS and present a review of the literature. In order to report the prevalence and type of hypogonadism, treatment regimen and behavioral issues, we retrospectively collected data on medical interviews, physical examinations, biochemical measurements and testosterone replacement therapy (TRT) in 57 Dutch men with PWS. Fifty-six (98%) of the patients had either primary, central or combined hypogonadism. Untreated hypogonadism was associated with higher body mass index and lower hemoglobin concentrations. TRT was complicated by behavioral challenges in one third of the patients. Undertreatment was common and normal serum testosterone levels were achieved in only 30% of the patients. Based on the Dutch cohort data, review of the literature and an international expert panel discussion, we provide a practical algorithm for TRT in adult males with PWS in order to prevent undertreatment and related adverse health outcomes.

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“…Another common hormone deficiency in PWS is hypogonadism, and many adolescents and young adults receive sex steroid replacement therapy [ 7 , 26 ]. Apart from induction and progression of puberty, the benefits of sex steroid replacement, specifically testosterone replacement, include improvements in muscle mass and body composition.…”

Section: Discussionmentioning

confidence: 99%

Effects of COVID-19 Lockdown on Weight, Body Composition, and Behavior of Children, Adolescents, and Young Adults with Prader–Willi Syndrome

Mohr

Laemmer

Schulte

et al. 2021

JCM

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To reduce transmission of the coronavirus disease 2019 (COVID-19), many countries implemented lockdowns, causing the closure of childcare services. This study was designed to evaluate the impact of the COVID-19 lockdown in March–April 2020 on children, adolescents, and young adults with Prader–Willi syndrome (PWS) living in Germany. We recruited 180 participants with a genetically confirmed PWS. All families completed a questionnaire, and participants underwent a post-lockdown assessment; the last examination before the lockdown was determined as the pre-lockdown assessment. We used bivariate analyses to compare pre- and post-lockdown outcomes. Weight standard deviation scores (SDSPWS) and body mass index (BMI)-SDSPWS remained stable or even decreased in some age groups. A statistically significant gain in lean body mass (LBM) was found in all groups <18 years of age. We observed an increase in IGF-I and IGFBP-3 concentrations without a significant change in growth hormone (GH) dosage. Most families (95.4%) reported set mealtimes and implementation of structured activities (72.2%) during the lockdown period. We therefore suggest that the favorable development of weight/BMI and LBM was caused by an interplay of a suspected enhanced GH administration and continuous parental commitment. However, more intense behavioral problems were observed in 45.7%, which persisted post-lockdown in 33.7%.

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Hypogonadism in Patients with Prader Willi Syndrome: A Narrative Review

Cited by 33 publications

References 72 publications

Correlation of Genotype and Perinatal Period, Time of Diagnosis and Anthropometric Data before Commencement of Recombinant Human Growth Hormone Treatment in Polish Patients with Prader–Willi Syndrome

Correlation of Genotype and Perinatal Period, Time of Diagnosis and Anthropometric Data before Commencement of Recombinant Human Growth Hormone Treatment in Polish Patients with Prader–Willi Syndrome

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

Effects of COVID-19 Lockdown on Weight, Body Composition, and Behavior of Children, Adolescents, and Young Adults with Prader–Willi Syndrome

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