Testosterone replacement therapy to improve secondary sexual characteristics and body composition without adverse behavioral problems in adult male patients with Prader–Willi syndrome: An observational study

Kido, Yasutoshi; Sakazume, Satoru; Abe, Yoshiko; Oto, Yuji; Itabashi, Hideyuki; Shiraishi, Masahisa; Yoshino, Atsunori; Tanaka, Yuriko; Obata, Kyoichi; Murakami, Nobuyuki; Nagai, Toshiro

doi:10.1002/ajmg.a.36048

Cited by 37 publications

(30 citation statements)

References 27 publications

(39 reference statements)

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“…While hormone replacement therapy does not change the intrinsic abnormalities of PWS, treatment with GH improves body composition, physical fitness, bone size and strength, and QoL (27). Clinical experience suggests a positive response with replacement of sex steroids, confirmed in men with PWS in the only treatment trial conducted to date (28). Strict diet and regular physical exercise also play key roles in overall patient health.…”

Section: Resultsmentioning

confidence: 93%

Bridging the gap: metabolic and endocrine care of patients during transition

Hokken-Koelega

Lely²,

Hauffa

et al. 2016

Endocrine Connections

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ObjectiveSeamless transition of endocrine patients from the paediatric to adult setting is still suboptimal, especially in patients with complex disorders, i.e., small for gestational age, Turner or Prader–Willi syndromes; Childhood Cancer Survivors, and those with childhood-onset growth hormone deficiency.MethodsAn expert panel meeting comprised of European paediatric and adult endocrinologists was convened to explore the current gaps in managing the healthcare of patients with endocrine diseases during transition from paediatric to adult care settings.ResultsWhile a consensus was reached that a team approach is best, discussions revealed that a ‘one size fits all’ model for transition is largely unsuccessful in these patients. They need more tailored care during adolescence to prevent complications like failure to achieve target adult height, reduced bone mineral density, morbid obesity, metabolic perturbations (obesity and body composition), inappropriate/inadequate puberty, compromised fertility, diminished quality of life and failure to adapt to the demands of adult life. Sometimes it is difficult for young people to detach emotionally from their paediatric endocrinologist and/or the abrupt change from an environment of parental responsibility to one of autonomy. Discussions about impending transition and healthcare autonomy should begin in early adolescence and continue throughout young adulthood to ensure seamless continuum of care and optimal treatment outcomes.ConclusionsEven amongst a group of healthcare professionals with a great interest in improving transition services for patients with endocrine diseases, there is still much work to be done to improve the quality of healthcare for transition patients.

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Section: Resultsmentioning

confidence: 93%

Bridging the gap: metabolic and endocrine care of patients during transition

Hokken-Koelega

Lely²,

Hauffa

et al. 2016

Endocrine Connections

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Section: Clinical Managementmentioning

confidence: 99%

“…One caveat is the potential impact on behavior, particularly in boys receiving testosterone. In a small study of boys with PWS with a baseline low score on the Modified Overt Aggression Scale, therapy reduced the percent body fat and increased bone mineral density and lean body mass (Kido et al, 2013). Additional medication considerations in girls include case-by-case consideration of treatment with estrogen, cyclic progesterone, intrauterine devices, or contraceptive pills.…”

Section: Hormone Replacement Therapy (Evidence Category C)mentioning

confidence: 99%

A multidisciplinary approach to the clinical management of Prader–Willi syndrome

Duis

Wattum

Scheimann

et al. 2019

Molec Gen & Gen Med

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Background Prader–Willi syndrome (PWS) is a complex neuroendocrine disorder affecting approximately 1/15,000–1/30,000 people. Unmet medical needs of individuals with PWS make it a rare disease that models the importance of multidisciplinary approaches to care with collaboration between academic centers, medical homes, industry, and parent organizations. Multidisciplinary clinics support comprehensive, patient‐centered care for individuals with complex genetic disorders and their families. Value comes from improved communication and focuses on quality family‐centered care. Methods Interviews with medical professionals, scientists, managed care experts, parents, and individuals with PWS were conducted from July 1 to December 1, 2016. Review of the literature was used to provide support. Results Data are presented based on consensus from these interviews by specialty focusing on unique aspects of care, research, and management. We have also defined the Center of Excellence beyond the multidisciplinary clinic. Conclusion Establishment of clinics motivates collaboration to provide evidence‐based new standards of care, increases the knowledge base including through randomized controlled trials, and offers an additional resource for the community. They have a role in global telemedicine, including to rural areas with few resources, and create opportunities for clinical work to inform basic and translational research. As a care team, we are currently charged with understanding the molecular basis of PWS beyond the known genetic cause; developing appropriate clinical outcome measures and biomarkers; bringing new therapies to change the natural history of disease; improving daily patient struggles, access to care, and caregiver burden; and decreasing healthcare load. Based on experience to date with a PWS multidisciplinary clinic, we propose a design for this approach and emphasize the development of “Centers of Excellence.” We highlight the dearth of evidence for management approaches creating huge gaps in care practices as a means to illustrate the importance of the collaborative environment and translational approaches.

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“…However, only 21% in pediatric departments and 56% in adult department received sex-hormone therapy. It is well known that sex-hormone therapy improves the quality of life of patients with hypogonadism ( 37 ), and it has been shown that testosterone replacement therapy of PWS patients improved body composition and bone mineral density without adverse behavioral problems ( 38 ). The low rate of sex-hormone therapy in our study can be explained by the significant prevalence of pre-existing behavioral disorders in these patients.…”

Section: Discussionmentioning

confidence: 99%

Impact of transitional care on endocrine and anthropometric parameters in Prader–Willi syndrome

Paepegaey

Coupaye

Jaziri

et al. 2018

Endocrine Connections

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ContextThe transition of patients with Prader–Willi syndrome (PWS) to adult life for medical care is challenging because of multiple comorbidities, including hormone deficiencies, obesity and cognitive and behavioral disabilities.ObjectiveTo assess endocrine management, and metabolic and anthropometric parameters of PWS adults who received (n = 31) or not (n = 64) transitional care, defined as specialized pediatric care followed by a structured care pathway to a multidisciplinary adult team.Patients and study designHormonal and metabolic parameters were retrospectively recorded in 95 adults with PWS (mean ± s.d. age 24.7 ± 8.2 years, BMI: 39.8 ± 12.1 kg/m²) referred to our Reference Center and compared according to transition.ResultsAmong the entire cohort, 35.8% received growth hormone (GH) during childhood and 16.8% had a GH stimulation test after completion of growth. In adulthood, 14.7% were treated with GH, 56.8% received sex-hormone therapy, whereas 91.1% were hypogonadic and 37.9% had undergone valid screening of the corticotropic axis. The main reason for suboptimal endocrine management was marked behavioral disorders. Patients receiving transitional care were more likely to have had a GH stimulation test and hormonal substitutions in childhood. They also had a lower BMI, percentage of fat mass, improved metabolic parameters and fewer antidepressant treatments. Transitional care remained significantly associated with these parameters in multivariate analysis when adjusted on GH treatment.ConclusionA coordinated care pathway with specialized pediatric care and transition to a multidisciplinary adult team accustomed to managing complex disability including psychiatric troubles are associated with a better health status in adults with PWS.

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Testosterone replacement therapy to improve secondary sexual characteristics and body composition without adverse behavioral problems in adult male patients with Prader–Willi syndrome: An observational study

Cited by 37 publications

References 27 publications

Bridging the gap: metabolic and endocrine care of patients during transition

Bridging the gap: metabolic and endocrine care of patients during transition

A multidisciplinary approach to the clinical management of Prader–Willi syndrome

Impact of transitional care on endocrine and anthropometric parameters in Prader–Willi syndrome

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