ESPE Abstracts

Purpose: The causes of obesity is so much that the pandemic spread the global. The inherited factors have a profound effect on body fat mass, as well as the environmental factors. Out of these, the foremost is genetic factors that tend to early childhood obesity. The consensus recommended that genetic testing is necessary for serious early onset obesity to identify the pathogenic genes of inherited obesity. In order to improve the positive rate of genetic testing, further screening of the early-onset obesity is needed by clinical parameters. However, the clinical parameters closely related to early onset obesity are not well definite. Therefore, this study aims to distinguish hereditary obesity from non-hereditary obesity by clinical indicators, and provided clinical basis for early diagnosis of hereditary obesity and then genetic screening.

Methods: In generally, We screened the onset obesity before 6 years old by meas of BMI over 95 percent, and then advise hospitalization to evaluate obesity, including physical examination, biochemical testing, hormone levels and gene detection so on. Specifically, gene testing detected point mutations in coding regions, chimeric mutation, mitochondrial mutation, multiplex ligation-dependent probe amplification (MLPA) and whole-exome copy number variations (CNVs) in the study.

Results: After exclusion, the date of 23 children with early onset obesity(17 male and 6 female) was included in our research. We identified 6 (17%) probands carrying different gene mutations, including UCP3, MC4R, NCOA1, SH2B1, BBS1 and 15q11-13, namely positive WES group. At contrast to the group of WES negative, the group of pathogenic gene obesity has a significant increase in differential white blood cell count (WBC), monocyte, serum ALT, AST and cortisol levels so on(P<0.05).

Conclusion: The nonsyndromic and syndromic monofactorial obesity is caused by pathogenic genes. It is especially critical to screen the abnormal obesity that need a further gene test by the differentiation of clinical indices. Through the difference of clinical indicators, this study screened the genetic obesity in early-onset obesity requiring further genetic detection, providing reference for the genetic detection of early-onset obesity in clinical practice.