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

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1、CONGENITAL HYPOTHYROIDISMDr. Xiaoping LuoProfessor and ChairmanDepartment of PediatricsTongji HospitalTongji Medical College iodineactive iodine+tyrosineMonoIodoTyrosineperoxidasethyroid glandtrapDiIodoTyrosinethyroxine,T4triiodothyronine,T3releasethyroid follicle epithelia Cthyroglobulintaking inre

2、lease T4,T3lysosomehydrolyzeThe Syntheses and Release couplingHypothalamuspituitarythyroidT4,T3Target organscirculation()TRHTSHEtiologyAplasia and hypoplasia 90 the most common cause of CH no thyroid rudimentary thyroid tissue ectopic location lingual thyroidEtiologyThyrotropin deficiency defects of

3、 the pituitary defects of the hypothalamus idiopathic hypothyroidism EtiologyThyrotropin unresponsiveness active TSH normal 131I uptakeThyroid hormone unresponsiveness T3 T4 FT3 FT4 EtiologyDefective synthesis of thyroxine iodide-trapping defect iodide organification defect coupling defect deiodinas

4、e defectClinical Manifestations female:male = 2:1In newborns heavier at birth prolonged physiology icterus post-term deliveryClinical ManifestationsIn newborns feeding problem quite baby reluctant to move Clinical ManifestationsIn newborns low temperature horse cry slow responses low muscular tensio

5、n low blood pressure2W boy BW4.4kgClinical ManifestationsSpecial facies and state pallor increased head size cool and dry skin coarse and brittle hairs short and thick neckSpecial facies and stateFace: myxedema far apart eyes depressed nose bridge opened mouth with tongue protruding, narrow palpebra

6、l fissuresSpecial facies and stateabdomen: umbilical hernia frog abdomen large abdomen Special facies and stateState: short short extremities long trunk 6W girl10y girlClinical ManifestationsOther manifestations: delayed dentition delayed sexual maturation retarded mental development little perspira

7、tion anemia slow pulse Parochial hypothyroidism the cause : Iodine deficiencyClinical manifestations “Nerve system ” syndrome deaf, dystaxia, spastic paralysis, mental retardation “ myxedema ” syndrome delayed growth and sexual development myxedema, T4 , TSHClinical ManifestationsMultiple pituitary

8、hormones deficiency The syndrome is mild some other hormones deficiency ACTH hypoglycemia Gn micropenis AVP diabetes insipidus Laboratory DataNewborn screening program 2-3 days after birth blood slip TSH 20mU/L suspected serum T4 , TSH final diagnosisLaboratory DataSerum T3 T4 TSH T4 TSHLaboratory DataTRH stimulation assayTRH 7mg/Kg ivnormal 20 30 min TSH peakedpituitary no TSH peakhypothalamus high and prolonged peak Laboratory DataBone age delayedSPECT ectopic thyroidTreatment L- thyroxine 6-8mg/kg in infants 4mg/kg in older childrenMonitor the levels of T4, T3, TSH Start treatment ASAP

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