1、先天性甲状腺功能减低症 包头医学院第二附属医院王映峰,目 的 purpose,熟悉先天性甲低的病因To be familial with etiology 掌握先天性甲低的临床表现与诊断To master symptoms and signs 掌握先天性甲低的治疗To master treatment,前 言 Introduction,定义-简称甲低，是由于各种不同的疾病累及下丘脑-垂体-甲状腺轴功能，以致甲状腺素缺乏；或是由于甲状腺素受体缺陷所造成的临床综合征. 按病变涉及的位置分为：原发性甲低、继发性甲低儿科多数为原发性甲低.又分为先天性和获得性. 先天性甲状腺功能减低症-是由于甲状腺激素
2、合成不足所造成的一种疾病.它又分为散发性和地方性,前 言 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10-20/ 10万（Incidence- 10-20/ 10万）,甲状腺激素生理和病理生理1.甲状腺激素的合成2.甲状腺激素的释放3.甲状腺激素合成和释放的调节4.甲状腺激素的主要作用(1)产热 (2)促进生长发育及组织分化(3)对代谢的影响(4)对中枢神经系统的影响(5)对维生
3、素代谢的作用(6)对消化系统的影响,病 因 etiology,散发性 sporadic 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常染色体隐性遗传病(enzymatic defection - autosomal recessive disease ) 促甲状腺激素缺陷(defection of TSH) 垂体分泌促甲状腺激素TSH障碍(disorder of TSH secretion) 下丘脑分泌的促甲状腺激素释放激素TRH障碍(disorder of TRH secretion),病
4、因 etiology,散发性 sporadic 甲状腺或靶器官反应性低下(Hypoactivity of thyroid or target organ) 新生儿暂时性甲状腺功能减低症(neonatal transient hypothyroidism)（由于母亲服用抗甲状腺药物或母亲患自身免疫性疾病,存在抗甲状腺抗体,均可通过胎盘,影响胎儿，造成甲低.抗体通常3个月内消失）,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可以窥见碘缺乏之危害。母孕期的碘缺乏是造
5、成儿童甲低的常见原因。(Now rare,iodide deficiency is the most common cause.),临床表现 Symptoms and signs,新生儿期症状neonatal period symptoma and signs 生理性黄疸延迟(Prolonged jaundice) 腹胀、便秘，易误诊为巨结肠(Abdominal distension, constipation ,easily misdiagnosised megacolon) 代谢率低 (Low metabolic rate)表现为睡眠多(sleepy) 反应迟钝，哭声低、(Sluggish
6、ness ,low crying) 声嘶、喂养困难、(Hoarse voice ,feeding problems) 体温低、末稍循环差(Hypothermia ,mottled skin,etc.),散发性sporadic,临床表现 Symptoms and signs,散发性sporadic,临床表现symptoms and signs,典型症状（半年后）( Characteristic symptoms) 特殊面容和体态Characteristic facies and posture 面容：眼距宽、鼻梁低平；舌大而厚，常伸出口外；面部粘液水肿，眼睑浮肿；头大颈短(Facies:spac
7、ed eyes, flat nasal bridge,large tongue and even protruding ,myxedema, eyelid edema,large skull and short neck.) 体态：身材矮小，四肢短小，上部量/下部量1.5Posture:short stature,short extremities. 智力低下(Mental disability),散发性 sporadic,临床表现 symptoms and signs,典型症状（半年后）(characteristic symptoms ) 生理功能低下(Low physiological f
8、unction) 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 .),散发性sporadic,治疗3
9、个月后,11个月患儿,临床表现,TSH和TRH分泌不足 Deficiency of TSH and TRHTSH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 exam
10、ple ,hypoglycemia(ACTH deficiency),micropenis (Gn deficiency) diabetics insipidus ( AVP deficiency).,散发性sporadic,临床表现 symptoms and signs,地方性甲状腺功能减低症神经性综合征：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
11、 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T4TSH。25%有甲状腺肿大 (Myxedema syndrome: obvious sex ,growth and development retardation, myxedema,mental disability,T4 TSH.25 percents, goiter),地方性 endemic,实验室检查 Laboratory findings,新生儿筛查neonatal screening,实验室检查 Laborator
12、y 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),核素检查 (Radioiodine test) TRH刺激试验 (TRH stimulated test),实验室检查 Laboratory findings,诊 断 diag
13、nosis,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 characteristic clinical symptoms,mental disturbance has appeared .so earlier period diagnosis is important.) 实验室检查是本病确诊的依据
14、，光凭临床不易确诊( To diagnosis depends on laboratory examination.It is not easy to diagnosis depends on clinical findings.),鉴别诊断 differential diagnosis,骨软骨发育不良 Osteochondrodysplasia,鉴别诊断 differential diagnosis,粘多糖病 mucopolysacchridosis,特征性的肋骨飘带状改变 characteristic ribbon bandlike changes,治 疗 treatment,除新生儿暂时
15、性甲低外，不论何种原因造成的甲低都需甲状腺素（优甲乐即L-甲状腺素钠50g/片）终生治疗，以维持正常生理功能( Except neonatal transient hypothyroidism,it is necessary to take thyroid hormone all the life to keep the physiological function.) 出生后1至2月即开始治疗者不致遗留神经系统损害，故治疗开始时间愈早愈好(No NS sequela occurs as the the therapy is begun after birth or in two months
16、.the earlier the time,the better the effects.) 随时调整剂量(To adjust dose as needed),谢谢,前 言 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 ）,
