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

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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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

Journal of Clinical Medicine ◽

10.3390/jcm10245781 ◽

2021 ◽

Vol 10 (24) ◽

pp. 5781

Author(s):

Karlijn Pellikaan ◽

Yassine Ben Brahim ◽

Anna G. W. Rosenberg ◽

Kirsten Davidse ◽

Christine Poitou ◽

...

Keyword(s):

Cohort Study ◽

Expert Panel ◽

Panel Discussion ◽

Pituitary Hormone ◽

Prader Willi Syndrome ◽

International Expert ◽

Medical File ◽

Genetic Syndrome ◽

Clinical Recommendations ◽

Medical Questionnaire

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.

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Pancreatic cancer treatment and research: an international expert panel discussion

Annals of Oncology ◽

10.1093/annonc/mdq545 ◽

2011 ◽

Vol 22 (7) ◽

pp. 1500-1506 ◽

Cited By ~ 32

Author(s):

M.A. Tempero ◽

J. Berlin ◽

M. Ducreux ◽

D. Haller ◽

P. Harper ◽

...

Keyword(s):

Pancreatic Cancer ◽

Cancer Treatment ◽

Expert Panel ◽

Panel Discussion ◽

International Expert

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Hypogonadism in male infants and adolescents: new androgen formulations

Hormone Research in Paediatrics ◽

10.1159/000521455 ◽

2021 ◽

Author(s):

Laura Chioma ◽

Marco Cappa

Keyword(s):

Replacement Therapy ◽

Potential Role ◽

Pediatric Population ◽

Pubertal Development ◽

Fat Free Mass ◽

Delayed Puberty ◽

Testosterone Replacement Therapy ◽

Male Hypogonadism ◽

Adult Males

Background Male hypogonadism may be associated with micropenis and cryptorchidism in newborn, absent or incomplete pubertal development when it occurs during childhood. During puberty, androgen replacement therapy plays a pivotal role in subjects with hypogonadism to induce sexual maturation, growth acceleration, anabolic effects on fat-free mass growth increasing muscle strength, directly and indirectly on the attainment of peak bone mass in young men. Moreover, in newborns with congenital hypogonadism, androgen therapy could be effective to increase genital size. Summary Testosterone replacement therapy (TRT) represents the cornerstone of the management of hypogonadism in boys. During puberty, replacement therapy needs to be modulated with gradual dosing increase to better mimic the physiologic pubertal development. Currently, intramuscular testosterone esters (in particular testosterone enanthate, TE) and subcutaneous testosterone pellets are the only formulations approved by the US Food and Drug Administration (FDA) for delayed puberty, while no preparation is approved for long-term use in the adolescent age. Several new testosterone (T) formulations (as transdermal, nasal, subcutaneous, and oral formulation) are recently developed to improve the pharmacokinetic profile and to ease the administration route increasing patient compliance in adult males with hypogonadism. All these formulations are not approved for pediatric age, although some of them are used as “off-label” regimens. This special issue is aimed to illustrate new T formulations and their potential role as replacement therapy in the pediatric population, as well as to highlight investigational areas to contribute to health care improvement in these patients. Key Messages. Despite the lack of evidence-based guidelines regarding the choice of T formulation in the pediatric population, new formulations appear to have a potential role for TRT in adolescent age. They have been designed for adult age with a little flexibility of dosage, although a few formulations may be attractive for pubertal induction and penile enlargement thanks to their greater flexibility and easing of administration. On the other hand, long-acting and stable formulations could meet post-pubertal needs, increasing TRT compliance in a critical phase as the adolescent age. Further controlled, long-term safety, and efficacy studies for all these new T formulations within the pediatric population are needed.

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A Microanalysis of the Decision Points in the Treatment of a Young Child:An International Expert Panel Presentation

PsycEXTRA Dataset ◽

10.1037/e608902012-107 ◽

2009 ◽

Author(s):

Frances S. Waters ◽

Robbie Adler-Tapia ◽

Renee Marks ◽

Sandra Baita

Keyword(s):

Expert Panel ◽

International Expert ◽

Decision Points

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Faculty Opinions recommendation of Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.727041738.793527671 ◽

2017 ◽

Author(s):

Ruediger Hehlmann

Keyword(s):

Expert Panel ◽

International Expert ◽

Diagnosis And Management

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ISET Expert Panel Discussion Series 2020–2021

Journal of Special Education Technology ◽

10.1177/01626434211033589 ◽

2021 ◽

pp. 016264342110335

Author(s):

Emily Hoeh ◽

Tara L. Kaczorowski

Keyword(s):

Professional Development ◽

Special Education ◽

Information Sharing ◽

Expert Panel ◽

Panel Discussion ◽

Education Technology ◽

Technology Professional Development ◽

Individuals With Disabilities ◽

Technology Professional ◽

Development Committee

The Innovations and Special Education Technology Professional Development Committee would like to extend its appreciation to the following leaders in the field of Special Education. Each of the following individuals volunteered to speak during the 2020–2021 ISET Expert Panel Discussion series and shared expertise on a variety of pressing topics during remote instruction due to the COVID pandemic. The information sharing is a testament to their unwavering support for the members of ISET and all of the stakeholders involved in supporting individuals with disabilities.

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