矮身材儿童诊治指南

中华医学会儿科学分会内分泌遗传代谢学组在1998年曾提出临床应用基因重组人生长激素的建议(中华儿科杂志,1999,37:234),在此基础上,2006年10月再次对矮身材儿童的诊断治疗进行了广泛深入的讨论,取得了一致意见,现综合如下,俾便临床工作者参考.

Objective To establish a profile of the causes of apparently unexplained SS in genetic referral center and evaluate the current referral system. Methods This was a retrospective database survey on patients who were referred our clinical genetic service from 1988-1998 primarily because of SS. We retrieved the study population from our computer database using "short stature" as a search handle and then studied the demographic, clinical and laboratory data from their medical records. Results Three hundred and fifty-three subjects were referred for genetic evaluation of SS in 1988-1998. The mean age of referred subjects was 11.5 years and the female to male ratio was 7.6. All referrals had undergone cytogenetic studies to exclude chromosomal abnormalities, 19% of girls with apparently unexplained short stature had Turner syndrome; at least 47.9% of the study population were normal variants and 25% of the referrals had inadequate information for classification.Conclusions Genetic investigation is essential in the management of patients with SS, especially for girls suspected of having Turner syndrome, in which growth hormone treatment has shown to improve final height. We also highlight the inherited causes of short stature, which were often misdiagnosed as benign familial short stature, and discussed the drawbacks of the current referral system.

对特发性身材矮小儿童诊断和治疗的共识声明生长激素研究学会、Lawson wilkins儿科内分泌学会及欧洲儿科内分泌学会专题研讨会纪要

身材矮小是小儿内分泌科和其他儿科医生常遇到的主诉之一,其中有相当数量病因不明,称为特发性身材矮小(ISS).

不同原因矮小儿童终身高的研究

对于儿童身高的问题,我国传统观念中有"早长、晚长"之说,好多家长,甚至于非专业的医生对于儿童时期的矮小不以为然,期待着能够"晚长".为明确不同原因的矮小儿童终成人身高(FAH),对萧山区中小学中筛查出来确诊的矮小儿童进行随访.对所有随访者的FAH进行了测量,还与其遗传靶身高(THt),进行了比较.

垂体机能减退

垂体机能减退(hypopituitarism),又称垂体性侏儒症(pituitary dwarf),或Lévi-Lorain侏儒,是由于垂体前叶机能不足所引起儿童期生长发育障碍.通常表现为肢体匀称性短小并呈幼稚状态,常同时影响到性器官和第二性征的发育.原发性病因不明,部分病例有家族发病史,可能为常染色体隐性遗传病.在治疗方面,通过重组DNA的技术,人工合成人体生长激素(human growth hormone,HGH)已获得成功,现已能够对垂体机能减退的患儿进行治疗.此外,还可用来治疗体质性矮身材(constitutional short stature)或伴有生长延迟的先天综合征.