山东济宁地区270例矮小症病因及诊断线索分析

目的探讨山东济宁地区270例矮小症病因及早期诊断线索。 方法回顾性分析2013年4月至2014年4月济宁医学院附属医院内分泌科收治的270例(男性179例，女性91例)矮小症患者的临床资料，均采用统一的调查问卷进行详细的病史采集、体格检查及相关实验室检查。本研究仅对矮小症患者不同发病原因构成比及不同年龄段发病原因构成比进行了分析。 结果270例矮小症患者中，有18种病因，排名前5位分别是，生长激素缺乏症(GHD)150例，占55.56%；特发性身材矮小(ISS)81例，占30.00%；甲状腺功能减退症11例，占4.07%；小于胎龄儿(SGA)7例，占2.59%；先天性卵巢发育不全7例，占2.59%。此外，垂体柄阻断2例，占0.74%；神经纤维瘤病、家族性矮小、体质性青春期发育延迟、性早熟、佝偻病、巴特综合征、Russell-Silver综合征、促性腺激素分泌不足的性腺功能减退伴嗅觉丧失征(Kallmann征)及垂体占位性病变各1例，共占3.33%；合并其他慢性病者共3例，占1.11%。7岁以下(男性37例，女性12例)患儿矮小的主要原因为GHD、ISS、SGA；7～13岁(男性82例，女性64例)及13～18岁(男性60例，女性15例)患儿矮小的病因均为GHD、ISS以及甲状腺功能减退症。 结论山东济宁矮小症病因谱复杂多样；矮小症临床表现各异，正确诊断并及时给予恰当治疗尤为重要。

Etiologic and diagnostic analysis of 270 children with short stature in China Jining region

ObjectiveTo explore the etiology of two hundred and seventy children with short stature and the diagnostic clue. MethodsTwo hundred and seventy children of outpatient were collected from April 2013 to April 2014 in the Growth and Development Department of Affiliated Hospital of Jining Medical College.Among them, one hundred and seventy-nine were males (66.30%), ninty-one were females(33.70%). All of the children were collected detail medical history and taken both physical and laboratory examinations. ResultsThere were 18 kinds of causes of short stature in two hundred and seventy children, the top five respectively were: one hundred and fifty cases (55.56%) diagnosed as growth hormone deficiency(GHD), eight-one cases (30.00%) with idiopathic short stature (ISS), eleven cases (2.59%) with hypothyroidism, seven cases(2.59%) with small for gestational age (SGA), seven cases (2.59%) with turner syndrome (TS). In addition, two cases (0.74%) of pituitary stalk interruption, while the neurofibromatosis, familial short stature, constitutional delayed puberty, precocious puberty, rickets, Bartter syndrome, Russell-Silver syndrome, Kallmann syndrome and pituitary space-occupying lesions were each one cases(total 3.33%). There were three cases(1.11%)combined with other chronic diseases.Forty-nine children(18.14%) were under 7 years old.Among them, thirty-seven were males, twevele were females, and the main reason for these children with short stature were GHD, ISS and SGA.One hundred and forty-six children were among 7-13 years old, among them, eighty-two were males, sixty-four were females.seventy-five children were among 13-18 years old, sixty were males, fifteen were females, and the same main etiologies for these two groups were all GHD, ISS and hehypothyroidism disease. ConclusionsThe etiologies of children with short stature of Shandong Jining region are complex.The clinical manifestations of short stature are different, and the correct diagnosis and appropriate treatment is very important.