先天性甲状腺功能低下(CONGENITAL-HYPOTHYROIDISM)课件

CONGENITAL HYPOTHYROIDISMDr.Xiaoping LuoProfessor and ChairmanDepartment of PediatricsTongji HospitalTongji Medical CollegeCONGENITAL HYPOTHYROIDISMDr.X1 iodineactive iodine+tyrosineMonoIodoTyrosineperoxidasethyroid glandtrapDiIodoTyrosinethyroxine,T4triiodothyronine,T3releasethyroid follicle epithelia Cthyroglobulintaking inrelease T4,T3lysosomehydrolyzeThe Syntheses and Release coupling iodineactive iodineMonoIodoTy2HypothalamuspituitarythyroidT4,T3Target organscirculation()TRHTSHHypothalamuspituitarythyroidT43EtiologyAplasia and hypoplasia 90 the most common cause of CH no thyroid rudimentary thyroid tissue ectopic location lingual thyroidEtiologyAplasia and hypoplasia4EtiologyThyrotropin deficiency defects of the pituitary defects of the hypothalamus idiopathic hypothyroidism EtiologyThyrotropin deficiency5EtiologyThyrotropin unresponsiveness active TSH normal 131I uptakeThyroid hormone unresponsiveness T3 T4 FT3 FT4 EtiologyThyrotropin unresponsi6EtiologyDefective synthesis of thyroxine iodide-trapping defect iodide organification defect coupling defect deiodinase defectEtiologyDefective synthesis of7Clinical Manifestations female:male=2:1In newborns heavier at birth prolonged physiology icterus post-term deliveryClinical Manifestations fema8Clinical ManifestationsIn newborns feeding problem quite baby reluctant to move Clinical ManifestationsIn newb9Clinical ManifestationsIn newborns low temperature horse cry slow responses low muscular tension low blood pressureClinical ManifestationsIn newb102W boy BW4.4kg2W boy BW4.4kg11Clinical ManifestationsSpecial facies and state pallor increased head size cool and dry skin coarse and brittle hairs short and thick neckClinical ManifestationsSpecial12Special facies and stateFace:myxedema far apart eyes depressed nose bridge opened mouth with tongue protruding,narrow palpebral fissuresSpecial facies and stateFace:13Special facies and stateabdomen:umbilical hernia frog abdomen large abdomen Special facies and stateabdome14Special facies and stateState:short short extremities long trunk Special facies and stateState:156W girl10y girl6W girl10y girl16Clinical ManifestationsOther manifestations:delayed dentition delayed sexual maturation retarded mental development little perspiration anemia slow pulse Clinical ManifestationsOther 17Parochial hypothyroidism the cause:Iodine deficiencyClinical manifestations “Nerve system”syndrome deaf,dystaxia,spastic paralysis,mental retardation “myxedema”syndrome delayed growth and sexual development myxedema,T4 ,TSHParochial hypothyroidism the c18Clinical ManifestationsMultiple pituitary hormones deficiency The syndrome is mild some other hormones deficiency ACTH hypoglycemia Gn micropenis AVP diabetes insipidus Clinical ManifestationsMultipl19Laboratory DataNewborn screening program 2-3 days after birth blood slip TSH 20mU/L suspected serum T4,TSH final diagnosisLaboratory DataNewborn screeni20Laboratory DataSerum T3 T4 TSH T4 TSHLaboratory DataSerum T3 T4 T21Laboratory DataTRH stimulation assayTRH 7mg/Kg ivnormal 20 30 min TSH peakedpituitary no TSH peakhypothalamus high and prolonged peak Laboratory DataTRH stimulatio22Laboratory DataBone age delayedSPECT ectopic thyroidLaboratory DataBone age 23Treatment L-thyroxine 6-8mg/kg in infants 4mg/kg in older childrenMonitor the levels of T4,T3,TSH Start treatment ASAPTreatment L-thyroxine 24