1、CONGENITAL HYPOTHYROIDISMDr.Xiaoping Luo Professor and Chairman Department of PediatricsTongji Hospital of Tongji Medical CollegeHuazhong University of Science and Technology Wuhan,ChinaReleasethyroid follicle epithelia Cthyroglobulintaking inrelease T4,T3lysosomehydrolyzeiodine+tyrosineactiveMonoIo
2、doTyrosineperoxidaseThe Syntheses and Releasethyroid glandtrapthyroxine,T4 triiodothyronine,T3iodine coupling DiIodoTyrosinethyroidT4,T3Target organscirculation()HypothalamusTRHpituitaryTSH EtiologyAplasia and hypoplasia 90the most common cause of CH no thyroidrudimentary thyroid tissue ectopic loca
3、tionlingual thyroidEtiologyThyrotropin deficiencydefects of the pituitary defects of the hypothalamus idiopathic hypothyroidismEtiologyThyrotropin unresponsiveness active TSHnormal 131I uptakeThyroid hormone unresponsiveness T3 T4FT3FT41EtiologyDefective synthesis of thyroxine iodide-trapping defect
4、 iodide organification defect coupling defectdeiodinase defectClinical Manifestationsfemale:male=2:1 In newbornsheavier at birthprolonged physiology icterus post-term deliveryClinical ManifestationsIn newbornsfeeding problemquite baby reluctant to moveClinical ManifestationsIn newbornslow temperatur
5、e horse cryslow responseslow muscular tension low blood pressure2W boy BW4.4kgClinical ManifestationsSpecial facies and state pallorincreased head size cool and dry skin coarse and brittle hairs short and thick neckSpecial facies and stateFace:myxedema far apart eyesdepressed nose bridgeopened mouth
6、 with protruding tongue narrow palpebral fissures2Special facies and stateabdomen:umbilical herniafrog abdomen large abdomenSpecial facies and stateState:shortshort extremities long trunk6W girl10y girlClinical ManifestationsOther manifestations:delayed dentitiondelayed sexual maturation retarded me
7、ntal development little perspirationanemia slow pulseParochial hypothyroidismthe cause:Iodine deficiency Clinical manifestations“Nerve system”syndromedeaf,dystaxia,spastic paralysis,mental retardation“myxedema”syndrome delayed growth and sexualdevelopmentmyxedema,T4 ,TSHClinical ManifestationsMultip
8、le pituitary hormones deficiency The syndrome is mildsome other hormones deficiency ACTHhypoglycemiaGnmicropenisAVPdiabetes insipidusLaboratory DataNewborn screening program2-3 days after birthblood slip TSH 20mU/Lsuspected serum T4,TSHfinal diagnosis3Laboratory DataSerum T3 T4 TSH T4TSHTRH stimulat
9、ion assayTRH7 g/Kg ivnormal20 30 minTSH peakedpituitaryno TSH peak hypothalamus high and prolonged peakLaboratory DataBone agedelayedSPECTectopic thyroidretrosternal thyroidlingual root thyroidTreatmentL-thyroxineStart treatment ASAP6-8 g/kg in infants 4 g/kg in older childrenwithin 3 month with acceptable prognosis(80%normal)after 6 months with mental retardation though improve growthMonitor the levels of T4,T3,TSHevery 2 wks until normal T4 and THS,thenevery 3 month,after 12 years,every 6 month follow-upTHANK YOU!4
