Loss-of-Function <i>GHSR</i> Variants Are Associated With Short Stature and Low IGF-I
This study combines phenotypical and functional data in a uniquely large group of children with short stature carrying GHSR variants, and shows their good response to GH treatment. The results strengthen the hypothesis of GHSR's role in GH secretion.
Authors
- Annemieke M. Boot (ORCID: https://orcid.org/0000-0002-2426-3222)
- Hermine A. van Duyvenvoorde (ORCID: https://orcid.org/0000-0003-0451-2065)
- Monique Losekoot (ORCID: https://orcid.org/0000-0002-7272-5137)
- Malou Heijligers (ORCID: https://orcid.org/0000-0002-0174-8278)
- M. Claire Woltering
- Daniëlle C M van der Kaay (ORCID: https://orcid.org/0000-0001-6408-1717)
- Patric J. D. Delhanty (ORCID: https://orcid.org/0000-0002-0828-3143)
- Tuula Rinne (ORCID: https://orcid.org/0000-0003-4350-8106)
- Josine C. van der Heyden (ORCID: https://orcid.org/0000-0001-6074-6005)
- Sander Kooijman (ORCID: https://orcid.org/0000-0002-0014-5571)
- Sabine E Hannema (ORCID: https://orcid.org/0000-0002-8996-0993)
- Patrick C.N. Rensen (ORCID: https://orcid.org/0000-0002-8455-4988)
- Sjoerd D. Joustra (ORCID: https://orcid.org/0000-0002-4733-9031)
- Erica L T van den Akker (ORCID: https://orcid.org/0000-0001-5352-9328)
- Jan M. Wit (ORCID: https://orcid.org/0000-0002-1715-5020)
- Ellen M.N. Bannink
- Vera van Tellingen
- Jenny A. Visser (ORCID: https://orcid.org/0000-0001-7182-3571)
- Kaiming Yue
- Wouter J. de Waal
- Anne R Kruijsen
- Lauren D Punt
- Kirsten de Groote
- Christiaan de Bruin
- Willie M. Bakker‐van Waarde
- Noa J M Mutsters
- Anneke A van Boekholt
- Nancy H G van Nieuwaal-van Maren
- Lucia C Delemarre
Institutions
- Leiden University (NL)
- University Medical Center Groningen (NL)
- Radboud University Nijmegen (NL)
- University of Groningen (NL)
- Leiden University Medical Center (NL)
- Maastricht University Medical Centre (NL)
- Catharina Ziekenhuis (NL)
- Erasmus MC (NL)
- Radboud University Medical Center (NL)
- Sint Franciscus Gasthuis (NL)
- Reinier de Graaf Hospital (NL)
- Diakonessenhuis hospital (NL)
- Amsterdam Neuroscience (NL)
- VieCuri Medisch Centrum (NL)
- Ziekenhuis Gelderse Vallei (NL)
- Willem-Alexander Kinderziekenhuis (NL)
- Erasmus MC - Sophia Children’s Hospital (NL)
- Ziekenhuis Amstelland (NL)
- Tergooi (NL)
- Franciscus Vlietland (NL)
- Amsterdam University Medical Centers (NL)
- Hartwig Medical Foundation (NL)
- Center for Human Reproduction (US)
- Vrije Universiteit Amsterdam (NL)
- University of Amsterdam (NL)
- Erasmus University Rotterdam (NL)
Publication Details
- Journal
- The Journal of Clinical Endocrinology & Metabolism
- Published
- 2025-01-09
- DOI
- https://doi.org/10.1210/clinem/dgaf010
- Citations
- 8
- Primary Topic
- Growth Hormone and Insulin-like Growth Factors
- Type
- article
- Field-Weighted Citation Impact
- 10.36
Funders
- Universiteit Leiden