Congenital Hypothyroidism(Cretinism)
(Cretinism) Congenital Hypothyroidism
LearningobjectivesYoushould know:The clinical features of congenitalhypothyroidism in neonates and childrenBe able to discussthe diagnosis andmanagement
Learning objectives You should know: The clinical features of congenital hypothyroidism in neonates and children Be able to discuss the diagnosis and management
Major contentsOverview of congenitalhypothroidismEtiologyClinical manifestationLaboratory examinationDiagnosis and differential diagnosisTreatment
Major contents Overview of congenital hypothroidism Etiology Clinical manifestation Laboratory examination Diagnosis and differential diagnosis Treatment
AbbreviationCHcongenital hypothyroidismTRHthyrotropin-releasing hormoneTSHthyrotropic-stimulatinghormoneT4thyroxineT3triiodothyronineMITmonoiodotyrosineDITdiiodotyrosineTGthyroglobulinTBGthyroxine-binding globulin
Abbreviation CH congenital hypothyroidism TRH thyrotropin-releasing hormone TSH thyrotropic-stimulating hormone T4 thyroxine T3 triiodothyronine MIT monoiodotyrosine DIT diiodotyrosine TG thyroglobulin TBG thyroxine-binding globulin
OverviewHypothyroidismCongenital hypothyroidismacquired hypothyroidismIodine deficiencyAutoimmunediseaseHashimoto thyroiditis
Overview Hypothyroidism Congenital hypothyroidism acquired hypothyroidism Iodine deficiency Autoimmune disease— Hashimoto thyroiditis
OverviewHypothyroidismCongenital hypothyroidismacquiredhypothyroidismIodine deficiencyAutoimmunediseaseHashimotothyroiditis
Overview Hypothyroidism Congenital hypothyroidism acquired hypothyroidism Iodine deficiency Autoimmune disease— Hashimoto thyroiditis
OverviewCongenitalHypothyroidismiscommondisease of pediatric endocrinology.Congenital factors cause the insufficiency of thyroidhormone, which result in the low metabolism,growth retardation, and mental impairment.The onset during inborn or newborn period, canlead to irreversible mentalimpairment.One of the few preventable disease, earlytreatment can improve prognosisthoroughly
Overview Congenital Hypothyroidism is common disease of pediatric endocrinology. Congenital factors cause the insufficiency of thyroid hormone, which result in the low metabolism, growth retardation, and mental impairment. The onset during inborn or newborn period, can lead to irreversible mentalimpairment. One of the few preventable disease, early treatment can improve prognosisthoroughly
Incidence1 in 4000livebirths(AmericaandEurope)Females 2: Male 1InChinaIncidenceofCongenital hypothyroidismFromthe neonatalscreening): 1 in 3624-----the nationwide neonatal screening fromclinical examination center of Health Bureau in1999
Incidence 1 in 4000 live births (America and Europe) Females 2: Male 1 In China: Incidence of Congenital hypothyroidism （From the neonatalscreening): 1 in 3624 -the nationwide neonatal screening from clinical examination center of Health Bureau in1999
Enbr yol ogy of Thyr oidPrimaryThyroid is the first endocrine gland in embryotympaniccavityto developPharyrxBegins toform in 24days afterfloorfertilizationExternalauditorymeatusFormsfromprimordialpharyngealfloor（原始咽底部）forming thyroid diverticulum（憩室）UItimobranchialbody(from4pouch)As embryo grows and tongue grows, thyroiddescendsinanteriorneck and reaches itsParathyroidgland (trom 3"pouch)normalposition--opposite cervical vertebra5-7by7weeksof gestationThymus(from3"pouch)
Embr yol ogy of Thyr oi d • Thyroid is the first endocrine gland in embryo to develop • Begins to form in 24 days after fertilization • Forms from primordial pharyngealfloor（原 始咽底部） forming thyroid diverticulum （憩室） • As embryo grows and tongue grows, thyroid descends in anterior neck and reaches its normal position ——opposite cervical vertebra 5-7 by 7 weeks of gestation Pharynx floor
RoleofPlacentaSubstancePlacental permeabilityI-++++TRH+++IgG Antibodies+++T3+T4TSH0
Role of Placenta Substance Placental permeability I- ++++ TRH +++ IgG Antibodies +++ T3 + T4 + TSH 0