Obesity Center CGG, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
PLoS One. 2020 May 8;15(5):e0232990. doi: 10.1371/journal.pone.0232990. eCollection 2020.
Underlying medical causes of obesity (endocrine disorders, genetic obesity disorders, cerebral or medication-induced obesities) are thought to be rare. Even in specialized pediatric endocrinology clinics, low diagnostic yield is reported, but evidence is limited. Identifying these causes is vital for patient-tailored treatment.
To present the results of a systematic diagnostic workup in children and adolescents referred to a specialized pediatric obesity center.
This is a prospective observational study. Prevalence of underlying medical causes was determined after a multidisciplinary, systematic diagnostic workup including growth charts analysis, extensive biochemical and hormonal assessment and genetic testing in all patients.
The diagnostic workup was completed in n = 282 patients. Median age was 10.8 years (IQR 7.7-14.1); median BMI +3.7SDS (IQR +3.3-+4.3). In 54 (19%) patients, a singular underlying medical cause was identified: in 37 patients genetic obesity, in 8 patients cerebral and in 9 patients medication-induced obesities. In total, thirteen different genetic obesity disorders were diagnosed. Obesity onset <5 years (p = 0.04) and hyperphagia (p = 0.001) were indicators of underlying genetic causes, but only in patients without intellectual disability (ID). Patients with genetic obesity with ID more often had a history of neonatal feeding problems (p = 0.003) and short stature (p = 0.005). BMI-SDS was not higher in patients with genetic obesity disorders (p = 0.52). Patients with cerebral and medication-induced obesities had lower height-SDS than the rest of the cohort.
To our knowledge, this is the first study to report the results of a systematic diagnostic workup aimed at identifying endocrine, genetic, cerebral or medication-induced causes of pediatric obesity. We found that a variety of singular underlying causes were identified in 19% of the patients with severe childhood obesity. Because of this heterogeneity, an extensive diagnostic approach is needed to establish the underlying medical causes and to facilitate disease-specific, patient-tailored treatment.
人们认为肥胖的潜在医学原因(内分泌紊乱、遗传性肥胖疾病、脑部或药物引起的肥胖)较为少见。即使在专门的儿科内分泌科诊所,也有报道称诊断率较低,但证据有限。确定这些病因对于针对患者的治疗至关重要。
介绍在专门的儿科肥胖中心就诊的儿童和青少年进行系统诊断性检查的结果。
这是一项前瞻性观察性研究。对所有患者进行多学科、系统的诊断性检查,包括生长图表分析、广泛的生化和激素评估以及基因检测,以确定潜在的医学病因,并确定其患病率。
在 282 例患者中完成了诊断性检查。中位年龄为 10.8 岁(IQR 7.7-14.1);中位数 BMI+3.7SDS(IQR+3.3-+4.3)。在 54 名(19%)患者中,确定了一个单一的潜在医学病因:37 名患者为遗传性肥胖,8 名患者为脑部肥胖,9 名患者为药物引起的肥胖。总共诊断出 13 种不同的遗传性肥胖症。肥胖发病年龄<5 岁(p=0.04)和贪食症(p=0.001)是存在潜在遗传病因的指标,但仅在无智力障碍(ID)的患者中如此。有遗传肥胖症且伴有 ID 的患者更常出现新生儿喂养问题的病史(p=0.003)和身材矮小(p=0.005)。遗传性肥胖症患者的 BMI-SDS 并不更高(p=0.52)。脑部肥胖症和药物引起的肥胖症患者的身高-SDS 低于队列中的其余患者。
据我们所知,这是第一项报告旨在确定儿科肥胖症的内分泌、遗传、脑部或药物引起的病因的系统诊断性检查结果的研究。我们发现,在严重的儿童肥胖症患者中,有 19%的患者发现了多种单一的潜在病因。由于这种异质性,需要进行广泛的诊断方法来确定潜在的医学病因,并促进针对特定疾病的个体化治疗。