先天性甲状腺功能减退.ppt

CONGENITAL HYPOTHYROIDISM 先天性甲状腺功能减退目目的的 purpose purpose 熟悉先天性甲低的病因熟悉先天性甲低的病因 To be familial with etiology To be familial with etiology 掌握先天性甲低的临床表现与诊断掌握先天性甲低的临床表现与诊断 To master symptoms and signs To master symptoms and signs 掌握先天性甲低的治疗掌握先天性甲低的治疗 To master treatment To master treatment 前 言前 言 introduction introduction ?名称——简称甲低已往也称“呆小病”或“克汀病”,现已屏弃( name-----previously called cretinism,now it is discarded. ) ?定义——甲低是由于甲状腺激素的合成及分泌不足或靶细胞受体缺陷,引起的代谢水平低下、体格和智能发育障碍( Concept----low metabolism level and physical and mental development disturbance because of deficiency of thyroid hormone of synthesis and secretion and target cell receptor ) 前 言前 言 introduction introduction ?流行情况——绝大多数是先天性的,地方性者多见于甲状腺肿流行的山区( Prevalence---- -most congenital ,but endemic,in mountain area epidemic with goiter. ) ?国内发病率—— 1/ 7000 ( Incidence------- 1/7000 ) 病因病因 etiology etiology ––散发性散发性 sporadic ––先天性甲状腺发育不全或不发育先天性甲状腺发育不全或不发育( ( congenital hypoplasia or aplasia of thyroid ) ––甲状腺素合成途径中酶缺乏甲状腺素合成途径中酶缺乏————常染色体隐常染色体隐性遗传病性遗传病(enzymatic defection ----- (enzymatic defection ----- autosomal autosomal recessive disease ) recessive disease ) 病因病因 etiology etiology ––促甲状腺激素缺陷促甲状腺激素缺陷(defection of TSH) (defection of TSH) ??垂体分泌促甲状腺激素垂体分泌促甲状腺激素 TSH TSH 障碍障碍(disorder of TSH secretion) (disorder of TSH secretion) ??下丘脑分泌的促甲状腺素释放激素下丘脑分泌的促甲状腺素释放激素 TRH TRH 障碍障碍(disorder of TRH secretion) (disorder of TRH secretion) 病因病因 etiology etiology ––甲状腺或靶器官反应性低下甲状腺或靶器官反应性低下( ( Hypoactivity Hypoactivity of of thyroid or an) thyroid or an) –新生儿暂时性甲状腺功能减低症(neonatal transient hypothyroidism) (由于母体内的促甲状腺受体阻断抗体通过胎盘进入胎儿所致,此抗体通常 3个月内消失) 病病因因地方性地方性- -碘缺乏碘缺乏(Endemic-iodide deficiency) (Endemic-iodide deficiency) 目前少见。碘缺乏的最大危害目前少见。碘缺乏的最大危害““一代粗(甲一代粗(甲状腺肿),二代傻,三代断根芽状腺肿),二代傻,三代断根芽””, ,从这首曾经从这首曾经流传在重病区的民谣中可以窥见碘缺乏之危害。流传在重病区的民谣中可以窥见碘缺乏之危害。母婴期的碘缺乏是造成儿童甲低的常见原因。母婴期的碘缺乏是造成儿童甲低的常见原因。(Now (Now rare,iodide rare,iodide deficiency is the most deficiency is the most common cause.) common cause.) 临床