II. Pathophysiology

  1. Congenital Hypothyroidism

III. Causes

  1. Enzymatic defect
  2. Idodine deficiency

IV. Signs

  1. Dwarfism
  2. Yellow dry thick skin
  3. Overweight
  4. Thick lips and Tongue
  5. Short hands with thick fingers
  6. Delayed deciduous Dentition
  7. Mental Retardation
  8. Delayed Sexual Development
  9. Slow Movement

V. Labs

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Ontology: Congenital Hypothyroidism (C0010308)

Definition (MSHCZE) Onemocnění, které vzniká při snížené činnosti štítné žlázy (hypotyreóze) v časném dětství, pokud tato hormonální porucha není včas léčena. Projevuje se narušeným tělesným vývojem (malý vzrůst) a duševní zaostalostí. V minulosti byl častý v oblastech s nedostatkem jodu (endemický k.), může být i důsledkem vzácné vrozené poruchy štítné žlázy. (cit. Velký lékařský slovník online, 2013 http://lekarske.slovniky.cz/ )
Definition (NCI) A deficiency of thyroid hormone present at birth. The etiology can be genetic or environmental, or a combination of both; treatment is based on severity and causality.
Definition (CSP) condition due to congenital lack of thyroid hormone, marked by arrested physical and mental development, dystrophy of the bones and soft parts, and lowered basal metabolism; it is the congenital form of thyroid deficiency, while myxedema is the acquired form.
Definition (MSH) A condition in infancy or early childhood due to an in-utero deficiency of THYROID HORMONES that can be caused by genetic or environmental factors, such as thyroid dysgenesis or HYPOTHYROIDISM in infants of mothers treated with THIOURACIL during pregnancy. Endemic cretinism is the result of iodine deficiency. Clinical symptoms include severe MENTAL RETARDATION, impaired skeletal development, short stature, and MYXEDEMA.
Concepts Disease or Syndrome (T047) , Congenital Abnormality (T019)
MSH D003409
ICD9 243
ICD10 E03.1
SnomedCT 75065003, 267465007, 190273009, 3614006, 267376007, 154661001, 154660000, 190268003, 217710005
LNC LP56766-6, MTHU025182
English HYPOTHYROIDISM CONGENITAL, Congen hypothy not iodine def, CONGEN HYPOTHYROIDISM, CHT - Congenit hypothyroidism, congenital hypothyroidism (diagnosis), congenital hypothyroidism, Hypothyroidism congenital, Congenital hypothyroidsm, Congenital hypothyroidism NOS, Congenital Hypothyroidism [Disease/Finding], infantile hypothyroidism, Hypothyroidism;congenital, cretinism, hypothyroidism congenital, Congenital Hypothyroidism, Hypothyroidism, congenital, Cretinism (disorder), Congenital hypothyroidism: [cretinism] or [NOS], Congenital hypothyroidism NOS (disorder), Congenital hypothyroidism: [cretinism] or [NOS] (disorder), Congenital hypothyroidism, Infantile hypothyroidism, Congenital hypothyroidism not due to iodine deficiency, Congenital goiter, Congenital goitre, CHT - Congenital hypothyroidism, Congenital hypothyroidism (disorder), congenital; hypothyroidism, cretin; type hypothyroid, cretin, hypothyroid; cretin (type), hypothyroidism; congenital, insufficiency; thyroid, congenital, thyroid; insufficiency, congenital, Cretinism, NOS, Cretinism (disorder) [Ambiguous], Congenital thyroid insufficiency, Goitrous cretinism, Cretinism, Hypothyroidism, Congenital
Dutch cretinisme, congenitale hypothyroïdie, congenitaal; hypothyroïdie, cretin; type hypothyreotisch, hypothyreotisch; cretin (type), hypothyroïdie; congenitaal, insufficiëntie; schildklier, congenitaal, schildklier; insufficiëntie, congenitaal, hypothyreoïdie, congenitaal, Cretinisme, Myxoedeem, congenitaal
French Hypothyroïdisme congénital, HYPOTHYROIDIE CONGENITALE, Crétinisme, Hypothyroïdie congénitale
German Kretinismuns, Hypothyreose kongenital, HYPOTHYREOSE KONGENITAL, kongenitale Hypothyreose, Kretinismus, Angeborene Hypothyreose, Kongenitale Hypothyreose
Swedish Medfödd hypotyreos
Japanese クレチンビョウ, センテンセイコウジョウセンキノウテイカショウ, 地方病性クレチン症, 粘液水腫-先天性, クレチン症, クレチニスム, 甲状腺機能低下症-先天性, 粘液水腫-乳児, 先天性甲状腺機能低下症, クレチン病, 乳児粘液水腫, 先天性粘液水腫
Czech kretenismus, kongenitální hypotyreoidismus, Vrozená hypotyreóza, Hypotyreóza vrozená, Kretinismus, hypotyreóza kongenitální
Finnish Kretinismi
Russian VROZHDENNYI GIPOTIREOZ, FAGGE BOLEZN', MIKSEDEMA VROZHDENNAIA, KRETINIZM, GIPOTIREOZ VROZHDENNYI, МИКСЕДЕМА ВРОЖДЕННАЯ, ФАГГЕ БОЛЕЗНЬ, ГИПОТИРЕОЗ ВРОЖДЕННЫЙ, КРЕТИНИЗМ, ВРОЖДЕННЫЙ ГИПОТИРЕОЗ
Portuguese HIPOTIROIDISMO CONGENITO, Cretinismo Endêmico Tipo Mixedematoso, Hipotiroidismo congénito, Cretinismo, Hipotireoidismo Congênito
Spanish HIPOTIROIDISMO CONGENITO, hipotiroidismo infantil, cretinismo (trastorno), cretinismo, hipotiroidismo congénito, SAI, hipotiroidismo congénito, SAI (trastorno), cretinismo (concepto no activo), hipotiroidismo congénito (trastorno), hipotiroidismo congénito no debido a la deficiencia de yodo, hipotiroidismo congénito, Hipotiroidismo congénito, Cretinismo, Hipotiroidismo Congénito
Polish Obrzęk śluzowaty wrodzony, Niedoczynność tarczycy wrodzona, Kretynizm
Hungarian Veleszületett hypothyreosis, Cretinizmus
Norwegian Medfødt hypotyreose, Kretinisme, Hypotyreose, medfødt, Kongenital hypotyreose, Hypotyreose, kongenital
Italian Cretinismo, Ipotiroidismo congenito