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Endocrine Abstracts (2025) 110 EP884 | DOI: 10.1530/endoabs.110.EP884

ECEESPE2025 ePoster Presentations Metabolism, Nutrition and Obesity (164 abstracts)

Gene diagnostic challenge of extreme early-onset obesity before 5 years old

Si Chen 1 & Xinran Cheng 1


1Chengdu Women’s and Children’s Central Hospital, Chengdu, China


JOINT2812

Background: Clinical parameters, such as differential white blood cell counts, are linked to metabolic diseases and insulin resistance. However, the closely clinical markers associated with early-onset obesity, particularly genetic obesity, remain undefined. Given the increasing consensus around the necessity of genetic testing for severe early-onset obesity, there’s a need to enhance the efficacy of such tests. This study endeavors to distinguish between hereditary and non-hereditary obesity using clinical indicators. The goal is to offer a foundation for the early diagnosis of hereditary obesity and subsequent genetic screening. Therefore, we conducted this observational study.

Methods: We identified early-onset obesity in children below five years old, defined by a BMI exceeding the 95th percentile. Recommended interventions included hospitalization for comprehensive obesity assessments encompassing physical examinations, biochemical tests, hormone levels, and genetic screenings.

Results: When compared to the negative Whole Exome Sequencing (WES) group, six distinct gene mutations were identified in the positive WES group: BBS1, MC4R, NCOA1, SH2B1, UCP3, and 15q11-13. This group also demonstrated a significant increase in differential white blood cell count, monocytes, serum ALT, AST, and cortisol levels (P <0.05).

Conclusions: By examining disparities in clinical indicators, this research highlights the potential for genetic obesity screening in early-onset cases. Our findings provide valuable insights for the clinical genetic testing of early-onset obesity.

Keywords: Early-onset obesity, genetic detection, gene mutations, monocyte, white blood cell count.

Disclosure of interest: The authors have not any conflict of interest or competing interest to declare.

Volume 110

Joint Congress of the European Society for Paediatric Endocrinology (ESPE) and the European Society of Endocrinology (ESE) 2025: Connecting Endocrinology Across the Life Course

European Society of Endocrinology 
European Society for Paediatric Endocrinology 

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