Monogenic obesity due to MC4R deficiency: lessons from a multigenerational case
This case underscores the importance of early genetic testing in severe childhood obesity to avoid ineffective treatments and enable targeted therapies (e.g., GLP-1 analogues). Diagnosing (likely) pathogenic MC4R variants can also identify at-risk relatives, providing psychological and clinical benefits across generations.
Authors
- Eleni Z. Giannopoulou (ORCID: https://orcid.org/0009-0000-8803-670X)
- C Nestoris
- Stefanie Zorn (ORCID: https://orcid.org/0000-0001-9375-4845)
- Julia von Schnurbein (ORCID: https://orcid.org/0000-0001-9918-664X)
- Martin Wabitsch (ORCID: https://orcid.org/0000-0001-6795-8430)
- Melanie Schirmer
- Reiner Siebert
- Stephanie Brandt-Heunemann
- Abubakar Moawia
- Christian Denzer
Institutions
- Universität Ulm (DE)
- German Centre for Cardiovascular Research (DE)
- University Hospital Ulm (DE)
- Endokrinologikum (DE)
- Hannover Re (Germany) (DE)
Publication Details
- Journal
- Molecular and Cellular Pediatrics
- Published
- 2026-01-05
- DOI
- https://doi.org/10.1186/s40348-025-00214-z
- Primary Topic
- Regulation of Appetite and Obesity
- Type
- article
- Field-Weighted Citation Impact
- 0.00