Majcher Anna, Bielecka-Jasiocha Joanna, Pyrzak Beata
Katedra i Klinika Pediatrii i Endokrynologii Warszawskiego Uniwersytetu Medycznego.
Pediatr Endocrinol Diabetes Metab. 2009;15(3):152-6.
Short stature, defined as body height below the 10th percentile (<-1.2 SDS for sex and age) is often a reason for referring children to the paediatric endocrinology department. The most frequent diagnoses are: CDGP (constitutional delay of growth and puberty), FSS (familiar short stature), GHD (growth hormone deficiency), Turner's syndrome (TS). The aim of the study was an analysis of reasons for short stature and evaluation of the frequency of GHD and TS in short stature children in own clinical material.
1314 patients with short stature, aged 1 to 18 years (790 boys and 524 girls). Diagnostic procedures included an interview, physical examination, measurements of body weight and height, parents' height. Birth weight and length were analyzed. Anthropometric measurements were done by anthropologist according to current criteria. The values of somatic measurements were normalized according to the Institute of Mother and Child references 2001. Body height deficiency was from -1.2 SDS (10 percentile) to -4.0 SDS (<< 3rd percentile).
60% boys and 40% girls were in our group, at average age 10.27 +/- 3,84 years. In 246 children (18.7%) growth hormone deficiency was diagnosed: 176 boys and 70 girls. 49 girls had Turner's syndrome, 4 had coeliac disease (0.3%) and 4 boys had Noonan syndrome (0.5% boys). In 1011 children (76.9%) neither somatic disorders nor growth hormone deficiency were diagnosed. In 19% children low birth parameters were observed. No correlation between birth parameters and body height deficiency was observed.
身材矮小定义为身高低于第10百分位数（性别和年龄对应的标准差＜-1.2 SDS），这常常是儿童被转诊至儿科内分泌科的原因。最常见的诊断包括：体质性生长和青春期延迟（CDGP）、家族性矮小（FSS）、生长激素缺乏症（GHD）、特纳综合征（TS）。本研究的目的是分析身材矮小的原因，并评估本临床资料中身材矮小儿童的生长激素缺乏症和特纳综合征的发生率。
1314例身材矮小患者，年龄1至18岁（790名男孩和524名女孩）。诊断程序包括访谈、体格检查、体重和身高测量、父母身高测量。分析出生体重和身长。人体测量由人类学家按照现行标准进行。根据母婴研究所2001年的参考标准对身体测量值进行标准化。身高不足范围为-1.2 SDS（第10百分位数）至-4.0 SDS（远低于第3百分位数）。
我们的研究组中男孩占60%，女孩占40%，平均年龄为10.27±3.84岁。246名儿童（18.7%）被诊断为生长激素缺乏症：176名男孩和70名女孩。49名女孩患有特纳综合征，4名患有乳糜泻（0.3%），4名男孩患有努南综合征（男孩中的0.5%）。1011名儿童（76.9%）既未诊断出躯体疾病也未诊断出生长激素缺乏症。19%的儿童观察到出生参数较低。未观察到出生参数与身高不足之间的相关性。
