熟悉先天性甲低病因.pptVIP

Congenital hypothyroidism Symptoms and signs During the early weeks of life babies are usually asymptomatic and early clinical signs are non-specific. Important features include: umbilical hernia, wide posterior fontanelle or goiter at birth, a placid, sleepy, ‘good’ baby, poor feeding, constipation, hypothermia, peripheral cyanosis, edema, prolonged physiological jaundice. More specific features such as the coarse facies, large tongue, hoarse cry, dry skin and low hair line are late signs. Neonatal screening Although clinical detection of congenital hypothyroidism is unreliable, no screening program is 100% specific and sensitive: laboratory error; communication breakdown between laboratory and clinician; affected babies in whom the screening result will be normal. All abnormal or suspicious screening results must be confirmed before the infant is committed to long-term therapy but it is safer to start thyroxine whilst definitive results are awaited. If they are normal, full reassessment is necessary. * 病例: 男婴,足月儿,25天龄,出生体重4100g，生后母乳喂养困难。T35℃,P100次/分,R30次/分,皮肤黄染未退,少哭多睡,腹胀明显,大便秘结。摄膝部X线片未见骨化中心. 疑诊为---- 首先应做的检查是--- 确诊后最有效的治疗措施----- Thyroid Disorders in Children: Primary hypothyroidism: 1. Congenital 2. Autoimmune (Hashimoto thyroiditis) 3. Iodine deficiency 4. Iatrogenic (goitrogen ingestion, radiation) 5. Transient (transplacental passage of antithyroid drugs, maternal transfer of antibodies) Secondary hypothyroidism: 1. Central hypothyroidism (TSH deficiency) Primary hyperthyroidism: 1. Autoimmune (Graves disease) 2. Neonatal Graves disease (transplacental passage of TSH receptor-stimulating antibody) 3. Factitious (ingestion of excess thyroid hormone) Secondary hyperthyroidism: 1. Hyperthyrotropinemia (TSH excess) Other thyroid disorders: 1. Thyroid nodules (benign vs. malignant) 2. TBG deficiency or excess 3. Synthetic defects - hormones or carrier proteins 4. Euthyroid Sick Syndrome 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