{"orpha":90674,"name":"Isolated thyroid-stimulating hormone deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated TSH deficiency","Isolated thyrotropin deficiency"],"definition":"A type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90674/","orphanet_url":"https://www.orpha.net/en/disease/detail/90674","names":{"fr":{"name":"Déficit isolé en TSH","synonyms":["Déficit isolé en thyrotropine","Déficit isolé en thyréostimuline"],"definition":"Le déficit isolé en TSH (<i>thyroid-stimulating hormone</i>) est une forme d'hypothyroïdie congénitale centrale - le déficit permanent en hormones thyroïdiennes étant présent dès la naissance-dans laquelle l'abaissement des taux d'hormones thyroïdiennes est dû à une anomalie de synthèse de la TSH."},"de":{"name":"Thyreoideastimulierendes Hormon-Mangel, isolierter","synonyms":["TSH-Mangel, isolierter","Thyreotropinmangel, isolierter"],"definition":"Der isolierte Mangel des schilddrüsen-stimulierenden Hormons Thyreotropin (TSH) ist ein Typ der zentralen kongenitalen Hypothyreose (s. dort), einem von Geburt an bestehenden permanenten Defekt der Schilddrüse mit niedrigen Spiegeln der Schilddrüsenhormone als Folge mangelnder TSH-Synthese."},"es":{"name":"Deficiencia aislada de la hormona estimulante de la tiroides","synonyms":["Deficiencia aislada de TSH","Deficiencia aislada de tirotropina"],"definition":"Es un tipo de hipotiroidismo congénito central, un déficit permanente de hormonas tiroideas presente desde el nacimiento, caracterizado por bajos niveles de hormonas tiroideas debido a un déficit en la síntesis de TSH."},"it":{"name":"Deficit isolato dell'ormone stimolante la tiroide"},"nl":{"name":"Geïsoleerde deficiëntie van thyroïdstimulerend hormoon","synonyms":["Geïsoleerde TSH-deficiëntie","Geïsoleerde deficiëntie van thyrotropine"],"definition":"Een type van centrale congenitale hypothyreoïdie, een permanente deficiëntie van de schildklier die aanwezig is vanaf de geboorte, en die gekarakteriseerd wordt door lage gehaltes van schildklierhormonen als gevolg van een deficiënte synthese van TSH."},"pt":{"name":"Deficiência de hormona estimulante da tiroide isolada","definition":"A deficiência isolada da hormona estimuladora da tireóide (TSH) é um tipo de hipotireoidismo congénito central (ver este termo), uma deficiência permanente da tireóide presente ao nascimento, caracterizada por baixos níveis de hormonas tireóideas devido à deficiência na síntese do TSH."},"pl":{"name":"Izolowany Niedobór hormonów stymulujących tarczycę","synonyms":["Izolowany Niedobór TSH"]},"cs":{"name":"Izolovaný deficit tyroid-stimulujícího hormonu","synonyms":["Izolovaný deficit TSH"]},"uk":{"name":"Ізольований дефіцит тиреотропного гормону","synonyms":["Ізольований дефіцит тиреотропіну","Ізольований дефіцит ТТГ"],"definition":"A type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis."},"zh":{"name":"孤立型促甲状腺激素缺乏","synonyms":["孤立型促甲状腺激素缺乏"]},"tr":{"name":"İzole tiroid uyarıcı hormon eksikliği","synonyms":["İzole TSH eksikliği","İzole tirotropin eksikliği"]}},"xrefs":[{"source":"OMIM","code":"275100","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E03.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A00.01","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"798705274"},{"source":"MONDO","code":"0010139","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C000610012","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4082174","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10129","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":226298,"name":"Central congenital hypothyroidism","classifications":[156,193]},{"orpha":95488,"name":"Non-acquired pituitary hormone deficiency","classifications":[156,193]}],"children":[],"genes":[{"symbol":"TSHB","name":"thyroid stimulating hormone subunit beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12930599[PMID]_20537182[PMID]_22851492[PMID]","hgnc":"12372","ensembl":"ENSG00000134200","omim":"188540","loci":["1p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-06-07","source":"20537182[PMID]_28549061[PMID]_26416826[PMID]_30374425[PMID]","terms":[{"hpo":"HP:0025483","label":"Abnormal circulating thyroglobulin concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031507","label":"Decreased circulating thyroxine level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031098","label":"Decreased thyroid-stimulating hormone level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031208","label":"Increased pituitary glycoprotein hormone alpha subunit level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008245","label":"Pituitary hypothyroidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031219","label":"Reduced radioactive iodine uptake","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005990","label":"Thyroid hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000270","label":"Delayed cranial suture closure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008828","label":"Delayed proximal femoral epiphyseal ossification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000282","label":"Facial edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001615","label":"Hoarse cry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001609","label":"Hoarse voice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003124","label":"Hypercholesterolemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002045","label":"Hypothermia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000870","label":"Increased circulating prolactin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004491","label":"Large posterior fontanelle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002690","label":"Large sella turcica","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000053","label":"Macroorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003265","label":"Neonatal hyperbilirubinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006579","label":"Prolonged neonatal jaundice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001662","label":"Bradycardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002312","label":"Clumsiness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000853","label":"Goiter","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030057","label":"Autoimmune antibody positivity","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0011437","label":"Maternal autoimmune disease","frequency":"Excluded (0%)","criteria":null}]}}