Reinehr Thomas, Hinney Anke, de Sousa Gideon, Austrup Frank, Hebebrand Johannes, Andler Werner
Vestische Hospital for Children and Adolescents, University of Witten/Herdecke, Datteln, Germany.
J Pediatr. 2007 Jun;150(6):618-22, 622.e1-5. doi: 10.1016/j.jpeds.2007.01.042.
To analyze the frequencies and clinical presentation of definable somatic disorders in children who are overweight.
We assessed prospectively 1405 children aged 4 to 16 years who were overweight and came to our specialized clinic for endocrinology and obesity with a standardized diagnostic procedure. In a subgroup of 223 children, we sought mutations in the melanocortin-4-receptor gene (MC4R).
Endocrine or syndromal disorders were diagnosed in 13 children (<1%; 4 with hypothyroidism, 1 with Cushing's syndrome, 1 with growth hormone deficiency, 2 with pseudohypoparathyroidism, 1 with pseudopseudohypoparathyroidism, 2 with Prader-Willi syndrome, 1 with Bardet-Biedl syndrome, 1 with Klinefelter syndrome). A total of 85% of these children had short stature, in marked contrast to only 0.6% of the other children. Moderately elevated thyrotropin and cortisol concentrations were observed in 4% and 5%, respectively, of all children. Non-synonymous MC4R mutations were found in 6% of the children.
In contrast to MC4R mutations, endocrine and clinically identifiable syndromal disorders were rare in children who were overweight and always associated with further symptoms. All children who are overweight with short stature or reduced growth velocity should be carefully examined for endocrine or syndromal disorders. A general screening with laboratory measurements cannot be recommended because thyrotropin and cortisol levels are frequently moderately elevated in children who are overweight, thus entailing further superfluous diagnostic procedures.
分析超重儿童中可明确诊断的躯体疾病的发生率及临床表现。
我们采用标准化诊断程序，对1405名4至16岁超重且前来我们内分泌与肥胖专科门诊就诊的儿童进行了前瞻性评估。在223名儿童的亚组中，我们检测了黑皮质素-4-受体基因（MC4R）的突变情况。
13名儿童（<1%）被诊断为内分泌或综合征性疾病（4例甲状腺功能减退、1例库欣综合征、1例生长激素缺乏、2例假性甲状旁腺功能减退、1例假假性甲状旁腺功能减退、2例普拉德-威利综合征、1例巴德-比德尔综合征、1例克兰费尔特综合征）。这些儿童中85%身材矮小，这与其他儿童中仅0.6%的比例形成显著对比。所有儿童中分别有4%和5%的促甲状腺素和皮质醇浓度中度升高。6%的儿童发现了非同义MC4R突变。
与MC4R突变不同，内分泌和临床上可识别的综合征性疾病在超重儿童中很少见，且总是伴有其他症状。所有身材矮小或生长速度减慢的超重儿童都应仔细检查是否存在内分泌或综合征性疾病。不建议进行实验室检测的常规筛查，因为超重儿童的促甲状腺素和皮质醇水平经常中度升高，从而需要进一步进行不必要的诊断程序。
