{"orpha":99832,"name":"Resistance to thyrotropin-releasing hormone syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Central hypothyroidism due to TRH receptor deficiency","TRH resistance syndrome"],"definition":"Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99832/","orphanet_url":"https://www.orpha.net/en/disease/detail/99832","names":{"fr":{"name":"Syndrome de résistance à la thyréolibérine","synonyms":["Hypothyroïdie centrale due à un déficit du récepteur de la TRH","Syndrome de résistance à la TRH hypothalamique"],"definition":"Le syndrome de résistance TRH (<i>thyrotropin-releasing hormone</i>) est une forme d'hypothyroïdie congénitale centrale dans laquelle l'abaissement des taux d'hormones thyroïdiennes est la conséquence d'une libération insuffisante de TSH (<i>thyroid-stimulating hormone</i>) par résistance hypophysaire à la TRH. Il peut, ou non, être manifeste dès la naissance."},"de":{"name":"Thyrotropin-Releasing-Hormon (TRH)-Resistenz","synonyms":["THR Resistenz-Syndrom","Zentrale Hypothyreose durch TRH-Rezeptor-Mangel"],"definition":"Das Syndrom der Resistenz gegen das Thyrotropin-Releasing-Hormon (TRH) ist ein Typ der zentralen kongenitalen Hypothyreose (s. dort) und gekennzeichnet durch niedrige Spiegel der Schilddrüsenhormone als Folge mangelhafter Sekretion des schilddüsenstimulierenden Hormons bei Resistenz der Hypophyse gegen TRH. Die Symptome können schon bei Geburt bestehen."},"es":{"name":"Síndrome de resistencia a la hormona liberadora de tirotropina","synonyms":["Hipotiroidismo central por deficiencia del receptor TRH","Síndrome de resistencia a la TRH"],"definition":"El síndrome de resistencia a la hormona liberadora de tirotropina (TRH) es un tipo de hipotiroidismo congénito central caracterizado por bajos niveles de hormonas tiroideas debido a una liberación insuficiente de hormona estimulante de la tiroides (TSH) causada por una resistencia hipofisaria a la TRH. Puede ser observado o no en el nacimiento."},"it":{"name":"Sindrome da resistenza all'ormone di rilascio della tireotropina","synonyms":["Ipotiroidismo centrale da deficit del recettore del TRH","Sindrome da resistenza al THR"]},"nl":{"name":"Resistentie tegen thyrotropinevrijmakend hormoon-syndroom","synonyms":["Centrale hypothyreoïdie door deficiëntie van TRH-receptor","Resistentie tegen thyrotropine-'releasing' hormoon-syndroom","THR-resistentiesyndroom"],"definition":"Resistentie tegen thyrotropinevrijmakend hormoon (TRH)-syndroom is een type van centrale congenitale hypothyreoïdie, gekenmerkt door lage gehaltes van schildklierhormonen als gevolg van onvoldoende vrijzetting van thyroïdstimulerend hormoon (TSH) veroorzaakt door resistentie van hypofyse tegen TRH. Het kan al dan niet waargenomen worden van bij de geboorte."},"pt":{"name":"Resistência generalizada à hormona libertadora de tireotropina","definition":"O síndrome de resistência à hormona libertadora de tirotropina (TRH) é um tipo de hipotiroidismo congénito central (ver este termo), caracterizado por baixos níveis de hormona da tiroide causado pela libertação insuficiente de hormona estimuladora da tiroide (TSH) devido a resistência da pituitária à TRH. Pode ou não ser observado à nascença."},"pl":{"name":"Zespół oporności na hormon tyreotropowy","synonyms":["Ośrodkowa niedoczynność tarczycy z powodu niedoboru receptorów TRH","Zespół oporności na THR"]},"cs":{"name":"Syndrom rezistence k tyreotropin-releasing hormonu","synonyms":["Syndrom TRH rezistence","Centrální hypotyreóza způsobená deficitem TRH receptoru"]},"uk":{"name":"Синдром стійкості до тиреотропного гормону","synonyms":["Центральний гіпотиреоз внаслідок дефіциту рецепторів ТТГ","Синдром резистентності до ТТГ"],"definition":"Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism (see this term) characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth."},"zh":{"name":"甲状腺激素释放激素抵抗综合征","synonyms":["TRH受体缺陷所致中枢性甲状腺功能减退"],"definition":"促甲状腺素释放激素抵抗综合征(TRH综合征)是一种中枢先天性甲状腺功能减退症(见该词条)，其特征是由于垂体对TRH的抵抗导致促甲状腺激素(TSH)释放不足，导致甲状腺激素水平低下。该病可以从出生起就被观察到，也可能不被观察到。"},"tr":{"name":"Tirotropin salgılayan hormon sendromuna direnç","synonyms":["TRH direnç sendromu","TRH reseptör eksikliğine bağlı santral hipotiroidi"]}},"xrefs":[{"source":"OMIM","code":"618573","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":"1882852726"},{"source":"MONDO","code":"0032819","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1861106","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]}],"children":[],"genes":[{"symbol":"TRHR","name":"thyrotropin releasing hormone receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20537182[PMID]_22851492[PMID]","hgnc":"12299","ensembl":"ENSG00000174417","omim":"188545","loci":["8q23.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"19213692[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"19213692[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-06-07","source":"19213692[PMID]_20537182[PMID]_28549061[PMID]_26416826[PMID]_30374425[PMID]","terms":[{"hpo":"HP:0025483","label":"Abnormal circulating thyroglobulin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032210","label":"Decreased circulating free T3","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031507","label":"Decreased circulating thyroxine level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001609","label":"Hoarse voice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000870","label":"Increased circulating prolactin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025502","label":"Overweight","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008245","label":"Pituitary hypothyroidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006579","label":"Prolonged neonatal jaundice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008202","label":"Reduced circulating prolactin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031219","label":"Reduced radioactive iodine uptake","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005990","label":"Thyroid hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030057","label":"Autoimmune antibody positivity","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0002925","label":"Elevated circulating thyroid-stimulating hormone concentration","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000853","label":"Goiter","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0011437","label":"Maternal autoimmune disease","frequency":"Excluded (0%)","criteria":null}]}}