Management of Prader-Labhart-Willi syndrome in children and in adults, with particular emphasis on the treatment with recombinant human growth hormone

doi:10.5114/pedm.2022.112861

Review

. 2022;28(1):64-74.

doi: 10.5114/pedm.2022.112861.

Management of Prader-Labhart-Willi syndrome in children and in adults, with particular emphasis on the treatment with recombinant human growth hormone

Marta Drabik¹, Andrzej Lewiński^{1

2}, Renata Stawerska^{1

3}

Affiliations

¹ Department of Endocrinology and Metabolic Diseases, Polish Mother's Memorial Hospital - Research Institute in Lodz, Poland.
² Department of Endocrinology and Metabolic Diseases, Medical University of Lodz, Poland.
³ Department of Paediatric Endocrinology, Medical University of Lodz, Poland.

PMID: 35307998
PMCID: PMC10226360
DOI: 10.5114/pedm.2022.112861

Review

Management of Prader-Labhart-Willi syndrome in children and in adults, with particular emphasis on the treatment with recombinant human growth hormone

Marta Drabik et al. Pediatr Endocrinol Diabetes Metab. 2022.

. 2022;28(1):64-74.

doi: 10.5114/pedm.2022.112861.

Authors

Marta Drabik¹, Andrzej Lewiński^{1

2}, Renata Stawerska^{1

3}

Affiliations

¹ Department of Endocrinology and Metabolic Diseases, Polish Mother's Memorial Hospital - Research Institute in Lodz, Poland.
² Department of Endocrinology and Metabolic Diseases, Medical University of Lodz, Poland.
³ Department of Paediatric Endocrinology, Medical University of Lodz, Poland.

PMID: 35307998
PMCID: PMC10226360
DOI: 10.5114/pedm.2022.112861

Abstract
in English, Polish

Introduction: Prader-Willi syndrome (PWS) is a genetically determined disease that manifests itself in a number of abnormalities resulting, among others, from dysfunction of the hypothalamic-pituitary system. Only integrated, multidisciplinary care gives patients the chance to significantly improve the quality of life and achieve a life expectancy that does not differ from the general population.

Aim: The aim of the study was to summarize the available literature on the management of patients suffering from PWS.

Conclusions: More and more reports based on clinical trials conducted around the world indicate the undeniable benefits of rhGH therapy in patients with PWS in childhood and after the end of growth period. They consist in improving the body composition, improving the lipid profile, increasing bone mineral density and improving the mental state and patients' quality of life.

Wstęp: Zespół Pradera-Williego (PWS) jest genetycznie uwarunkowaną chorobą, która manifestuje się licznymi zaburzeniami, wynikającymi m.in. z nieprawidłowej czynności układu podwzgórzowo-przysadkowego. Jedynie zintegrowana, wielodyscyplinarna opieka daje pacjentom szansę na znaczną poprawę jakości życia oraz osiągnięcie długości życia nieodbiegającej od populacji ogólnej.

Cel pracy: Podsumowanie dostępnego piśmiennictwa dotyczącego postępowania z pacjentami cierpiącymi na PWS.

Wnioski: Coraz liczniejsze doniesienia oparte na prowadzonych na całym świecie badaniach klinicznych wskazują na niezaprzeczalne korzyści płynące z terapii rhGH stosowanej u chorych z PWS w wieku dziecięcym, jak również w wieku dorosłym – po zakończeniu procesu wzrastania. Polegają one na poprawie składu ciała, poprawie w zakresie lipidogramu, zwiększeniu gęstości mineralnej kości oraz poprawie stanu psychicznego, a także jakości życia chorych.

Keywords: metabolism; obesity; recombinant human growth hormone; therapeutic program.; Prader-Willi syndrome.

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Conflict of interest statement

none declared.

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References

1. Prader A, Labhart A, Willi H. Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchismus und Oligophrenie nach myotonieartigem Zustand im Neugeborenenalter. Schweiz Med Wochenschr 1956; 86: 1260–1261.
1. Zellweger H, Schneider HJ. Syndrome of hypotonia-hypomentia-hypogonadism-obesity (HHHO) or Prader-Willi syndrome. AJDC 1968; 115: 588–598. - PubMed
1. Goldstone AP, Holland AJ, Hauffa BP, et al. . On behalf of speakers and contributors at the Second Expert Meeting of the Comprehensive Care of Patients with PWS. Recommendations for the diagnosis and management of Prader-Willi syndrome. J Clin Endocrinol Metab 2008; 93: 4183–4197. - PubMed
1. Góralska M, Bednarczuk T, Rosłon M, et al. . Management of Prader-Willi Syndrome (PWS) in adults–what an endocrinologist needs to know. Recommendations of the Polish Society of Endocrinology and the Polish Society of Paediatric Endocrinology and Diabetology. Endokrynol Pol 2018; 69: 345–364. 10.5603/EP.2018.0047. - DOI - PubMed
1. Holm V, Cassidy S, Butler M, et al. . Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics 1993; 91: 398–402. - PMC - PubMed

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[1] Prader A, Labhart A, Willi H. Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchismus und Oligophrenie nach myotonieartigem Zustand im Neugeborenenalter. Schweiz Med Wochenschr 1956; 86: 1260–1261.

[2] Prader A, Labhart A, Willi H. Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchismus und Oligophrenie nach myotonieartigem Zustand im Neugeborenenalter. Schweiz Med Wochenschr 1956; 86: 1260–1261.

[3] Zellweger H, Schneider HJ. Syndrome of hypotonia-hypomentia-hypogonadism-obesity (HHHO) or Prader-Willi syndrome. AJDC 1968; 115: 588–598. - PubMed

[4] Zellweger H, Schneider HJ. Syndrome of hypotonia-hypomentia-hypogonadism-obesity (HHHO) or Prader-Willi syndrome. AJDC 1968; 115: 588–598. - PubMed

[5] Goldstone AP, Holland AJ, Hauffa BP, et al. . On behalf of speakers and contributors at the Second Expert Meeting of the Comprehensive Care of Patients with PWS. Recommendations for the diagnosis and management of Prader-Willi syndrome. J Clin Endocrinol Metab 2008; 93: 4183–4197. - PubMed

[6] Goldstone AP, Holland AJ, Hauffa BP, et al. . On behalf of speakers and contributors at the Second Expert Meeting of the Comprehensive Care of Patients with PWS. Recommendations for the diagnosis and management of Prader-Willi syndrome. J Clin Endocrinol Metab 2008; 93: 4183–4197. - PubMed

[7] Góralska M, Bednarczuk T, Rosłon M, et al. . Management of Prader-Willi Syndrome (PWS) in adults–what an endocrinologist needs to know. Recommendations of the Polish Society of Endocrinology and the Polish Society of Paediatric Endocrinology and Diabetology. Endokrynol Pol 2018; 69: 345–364. 10.5603/EP.2018.0047. - DOI - PubMed

[8] Góralska M, Bednarczuk T, Rosłon M, et al. . Management of Prader-Willi Syndrome (PWS) in adults–what an endocrinologist needs to know. Recommendations of the Polish Society of Endocrinology and the Polish Society of Paediatric Endocrinology and Diabetology. Endokrynol Pol 2018; 69: 345–364. 10.5603/EP.2018.0047. - DOI - PubMed

[9] Holm V, Cassidy S, Butler M, et al. . Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics 1993; 91: 398–402. - PMC - PubMed

[10] Holm V, Cassidy S, Butler M, et al. . Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics 1993; 91: 398–402. - PMC - PubMed

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Management of Prader-Labhart-Willi syndrome in children and in adults, with particular emphasis on the treatment with recombinant human growth hormone

Affiliations

Management of Prader-Labhart-Willi syndrome in children and in adults, with particular emphasis on the treatment with recombinant human growth hormone

Authors

Affiliations

Abstract
in English, Polish

Conflict of interest statement

Similar articles

Cited by

References

Publication types

MeSH terms

Substances

LinkOut - more resources

Full Text Sources

Medical

Abstract in English, Polish

Conflict of interest statement

Similar articles

Cited by

References

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Related information

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Abstract
in English, Polish