先天性甲状腺功能减低症-04级八年制.ppt

Congenital Hypothyroidism先天性甲状腺功能减低症 Xue Fan Gu, MD, PhDXinhua HospitalShanghai Jiao Tong University School of Medicine Incidence Thyroid hormone deficiency may: or acquired Congenital:most cases are hypoplasia or aplasia of the thyroid gland World: 1:3 000～5 000 China: 1:3 200 8th gestational weeks: synthesis of thyroglobulin 10~12th gestational weeks: pitutary gland begins to secrete TSH,thyroid gland synthesis of T3、T4 30th gestational weeks: hypothalamic-pitutary-thyroid axis is functioning and independent of the maternal axis After delivery, TSH rapidly rise reaching 60~80 uU/ml levels, and then slowly decline over the next few days(5~7d) to 5 uU/ml levels Thyroid hormone synthesis and metabolism The thyroid follicle is stimulated by TSH by increase with TSH receptor Iodine from the circulation is concentrated and rapidly oxidized by peroxidase to iodine Iodine incorporated into tyrosyl residures on thyroglobuline Iodothyrosines are couple an ether linkage to form T4 and T3 T3 and T4 Metabolic potency of T3 is 3~4 times that of T4. Only 20% of circulating T3 is secreted by the thyroid T3, T4 in circulation Binding form：70％with TBG ，other with Alb. Free form：T4 0.03%, T3 0.3% TRH TSH - Physiological of thyroid hormones Increase oxygen consumption Stimulate protein synthesis Influence growth and differentiation Affect carbohydrate, lipid and vitamine metabolism Etiology The cause may be sporadic or familial, goitrous or nongoitrous Defective embryogenesis 75% Agenesis, dysgenesis, ectopia Dyshormonogenesis Pit-1, TSH, TSHR, TTF-I, TTF-II, Pax 8, TG, TPO defect, etc. Iodide transport defect, organification defect, coupling defect, iodothyrosine deiodinase defect, inability of tissueses to convert T4 to T3 Deficiency or excess of iodine Transient Hypothyroidism Premature Maternal medications (propylthioura