Gonadal Hormone Substitution in People with Prader-Labhart-Willi Syndrome : An International Prader-Willi Syndrome Organisation Survey

© 2021 S. Karger AG, Basel..

BACKGROUND: Prader-Labhart-Willi syndrome (PWS) is a rare genetic disorder characterized by intellectual disability, behavioural problems, hypothalamic dysfunction, and specific dysmorphisms. Hypothalamic dysfunction causes growth hormone deficiency, dysregulation of energy balance, and hypogonadism. Although hypogonadism is prevalent in PWS, there are no clear guidelines for diagnosis and treatment. In particular, gonadal hormone substitution is a matter of debate due to concerns associated with the potentially induced aggressive behaviour, foremost in males, by sex steroids.

METHODS: In 2019, a workshop dedicated to hypogonadism was held prior to the 10th International PWS Organization Conference. In this context, we designed a questionnaire to assess "the current standard of care" of hypogonadism in children and adults with PWS, which was sent out to physicians caring for people with PWS worldwide.

RESULTS: Responses were received from a total of 24 centres located in 19 countries. Participating centres treat a total number of at least 1,000 children and adults with PWS. Responses showed limited consensus on who should be treated or at what age treatment should commence. Remarkably, very few behavioural problems were attributed to hormone substitution.

CONCLUSION: Based on our findings, we make recommendations to progress the knowledge on hypogonadism in PWS and improve daily practice.

Medienart:

E-Artikel

Erscheinungsjahr:

2021

Erschienen:

2021

Enthalten in:

Zur Gesamtaufnahme - volume:94

Enthalten in:

Hormone research in paediatrics - 94(2021), 5-6 vom: 20., Seite 176-185

Sprache:

Englisch

Beteiligte Personen:

Eiholzer, Urs [VerfasserIn]
Stephan, Anika [VerfasserIn]
Fritz, Christiane [VerfasserIn]
Katschnig, Claudia [VerfasserIn]
Noordam, Cees [VerfasserIn]
Clinical and Scientific Advisory Board of the International Prader-Willi Syndrome Organisation (IPWSO) [VerfasserIn]

Links:

Volltext

Themen:

Behaviour
Gonadal Hormones
Hormone replacement therapy
Hypogonadism
Journal Article
Prader-Willi syndrome
Puberty

Anmerkungen:

Date Completed 30.03.2022

Date Revised 30.03.2022

published: Print-Electronic

Citation Status MEDLINE

doi:

10.1159/000518342

funding:

Förderinstitution / Projekttitel:

PPN (Katalog-ID):

NLM328926906