Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2024 Jul;32(7):1257-1267.
doi: 10.1002/oby.24047. Epub 2024 May 28.

Clinical phenotypes of adults with monogenic and syndromic genetic obesity

Mila S Welling  1   2   3 , Mostafa Mohseni  1   2 , Renate E H Meeusen  1   2 , Cornelis J de Groot  1   3 , Mariëtte R Boon  1   2 , Lotte Kleinendorst  4   5 , Jenny A Visser  1   2 , Mieke M van Haelst  4   5 , Erica L T van den Akker  1   3 , Elisabeth F C van Rossum  1   2
Affiliations

Clinical phenotypes of adults with monogenic and syndromic genetic obesity

Mila S Welling et al. Obesity (Silver Spring). 2024 Jul.

Abstract

Objective: Considering limited evidence on diagnostics of genetic obesity in adults, we evaluated phenotypes of adults with genetic obesity. Additionally, we assessed the applicability of Endocrine Society (ES) recommendations for genetic testing in pediatric obesity.

Methods: We compared clinical features, including age of onset of obesity and appetite, between adults with non-syndromic monogenic obesity (MO), adults with syndromic obesity (SO), and adults with common obesity (CO) as control patients.

Results: A total of 79 adults with genetic obesity (32 with MO, 47 with SO) were compared with 186 control patients with CO. Median BMI was similar among the groups: 41.2, 39.5, and 38.7 kg/m2 for patients with MO, SO, and CO, respectively. Median age of onset of obesity was 3 (IQR: 1-6) years in patients with MO, 9 (IQR: 4-13) years in patients with SO, and 21 (IQR: 13-33) years in patients with CO (p < 0.001). Patients with genetic obesity more often reported increased appetite: 65.6%, 68.1%, and 33.9% in patients with MO, SO, and CO, respectively (p < 0.001). Intellectual deficit and autism spectrum disorder were more prevalent in patients with SO (53.2% and 21.3%) compared with those with MO (3.1% and 6.3%) and CO (both 0.0%). The ES recommendations were fulfilled in 56.3%, 29.8%, and 2.7% of patients with MO, SO, and CO, respectively (p < 0.001).

Conclusions: We found distinct phenotypes in adult genetic obesity. Additionally, we demonstrated low sensitivity for detecting genetic obesity in adults using pediatric ES recommendations, necessitating specific genetic testing recommendations in adult obesity care.

PubMed Disclaimer

References

REFERENCES

    1. World Health Organization. Prevalence of obesity among adults, BMI>=30 (age‐standardized estimate) (%). The Global Health Observatory. Accessed February 8, 2023. https://www.who.int/data/gho/data/indicators/indicator‐details/GHO/preva...
    1. Elks CE, den Hoed M, Zhao JH, et al. Variability in the heritability of body mass index: a systematic review and meta‐regression. Front Endocrinol (Lausanne). 2012;3:29.
    1. Maes HH, Neale MC, Eaves LJ. Genetic and environmental factors in relative body weight and human adiposity. Behav Genet. 1997;27(4):325‐351.
    1. Kleinendorst L, Massink MPG, Cooiman MI, et al. Genetic obesity: next‐generation sequencing results of 1230 patients with obesity. J Med Genet. 2018;55(9):578‐586.
    1. Styne DM, Arslanian SA, Connor EL, et al. Pediatric obesity‐assessment, treatment, and prevention: an endocrine society clinical practice guideline. J Clin Endocrinol Metab. 2017;102(3):709‐757.

Publication types

Grants and funding

LinkOut - more resources