先天性甲状腺功能减退.ppt

先天性甲状腺功能减退
病 因
地方性-碘缺乏
(Endemic-iodide deficiency)
目前少见。碘缺乏的最大危害“一代粗（甲状腺肿），二代傻，三代断根芽”,从这首曾经流传在重病区的民谣中toms and signs
典型症状（半年后）(characteristic symptoms )
生理功能低下(Low physiological function)
四少-少食、少哭、少动、少汗
(Poor eating, poor crying,little motion,diminished sweating.)
五慢-呼吸慢、脉搏慢、反应慢、生长慢、肠动慢
(RR↓,P↓,reactivity↓,growth retardation, vermiculation ↓.)
六低-体温低、血压低、肌张力低、哭声低、心音低、心电压低( hypothermia, hypotension ,poor muscle tone ,low cry,low cardiac sound,low cardiac voltage .)
临床表现 symptoms and signs
-TSH和TRH分泌不足 Deficiency of TSH and TRH
TSH和TRH分泌不足的患儿常保留部分甲状腺激素分泌功能，因此临床症状较轻，但常有其他其他多种垂体激素缺乏的症状如低血糖（ACTH缺乏）小阴茎（促性腺激素Gn缺乏）或尿崩症（抗利尿激素AVP缺乏）等。
clinical symptoms appear mild because of part of secretion of thyroid hormone,but followed by other signs of pituitary hormone deficiency ,for example ,hypoglycemia(ACTH deficiency),micropenis (Gn deficiency) diabetics insipidus ( AVP deficiency).
临床表现 symptoms and signs
地方性甲状腺功能减低症( Endemic hypothyroidism)
25%有甲状腺肿大 (25 percents, goiter.)
神经性综合征：表现为共济失调、痉挛性瘫痪、耳聋和智能低下为特征，但身材正常、甲状腺功能正常或轻度减低。
(NS syndrome:dystaxia, spastic paralysis,deafness and mental disability, but normal stature,normal or milder decreased function of thyroid gland.)
粘液水肿性综合征：以显著的生长发育和性发育落后、粘液水肿、智能低下为特征，血T4↓TSH↑。
(Myxedema syndrome: obvious sex ,growth and development retardation, myxedema,mental disability,T4↓ TSH↑.)
实验室检查 Laboratory findings
血清T4↓、TSH明显增高可确诊
To diagnosis depend on T4↓,TSH↑
实验室检查 Laboratory findings
骨龄测定 ( Estimate bone age)
骨龄：骨骼成熟度相当于某一年龄骨化中心的标准图谱时该年龄即为骨龄
(Bone age:Skeletal maturity equal to ossification center of standard map)
实验室检查 Laboratory findings
核素检查
(Radioiodine test)
TRH刺激试验
(TRH stimulated test)
诊 断 diagnosis
本病新生儿期不易确诊，故新生儿的筛查显得十分重要
( In neonatal period, to diagnosis is difficulty, so neonatal screening is important..)
在出现典型的临床症状时往往已造成不同程度的智能障碍，故早期诊断十分重要
( Before the appearance of characteris