{"orpha":226313,"name":"Congenital hypothyroidism due to maternal intake of antithyroid drugs","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare congenital hypothyroidism disorder characterized by transient, primary, fetal or neonatal hypothyroidism resulting from transplacental transfer of antithyroid drugs due to maternal intake. Patients may present fetal or neonatal goiter, hoarse cry, reduced tendon reflexes, feeding difficulty, constipation, prolonged jaundice and/or respiratory distress. Elevated levels of T4 and thyroid stimulating hormone usually normalize without treatment within 3 weeks of birth.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-226313/","orphanet_url":"https://www.orpha.net/en/disease/detail/226313","names":{"fr":{"name":"Hypothyroïdie congénitale due à une exposition maternelle aux médicaments antithyroïdiens","definition":"Hypothyroïdie congénitale rare caractérisée par une hypothyroïdie foetale ou néonatale primitive transitoire due au passage transplacentaire de médicaments antithyroïdiens ingérés par la mère. Les patients peuvent présenter un goitre foetal ou néonatal, des pleurs rauques, une diminution des réflexes tendineux, des difficultés à s'alimenter, une constipation, un ictère persistant et/ou une détresse respiratoire. Les taux élevés d'hormone T4 et de thyréostimuline se normalisent généralement sans traitement dans les 3 semaines suivant la naissance."},"de":{"name":"Hypothyreose, kongenitale, durch mütterliche Einnahme von Thyreostatica"},"es":{"name":"Hipotiroidismo congénito por la ingesta materna de fármacos antitiroideos","synonyms":["Hipotiroidismo congénito por la ingesta materna de medicamentos antitiroideos"],"definition":"El hipotiroidismo congénito por ingesta materna de medicamentos antitiroideos es un trastorno de hipotiroidismo congénito poco frecuente caracterizado por hipotiroidismo fetal o neonatal transitorio primario, que resulta de la transferencia transplacentaria de medicamentos antitiroideos por ingesta materna. Los afectados pueden presentar bocio fetal o neonatal, llanto ronco, reflejos tendinosos reducidos, dificultad para alimentarse, estreñimiento, ictericia prolongada y/o dificultad respiratoria. Por lo general, los niveles elevados de T4 y de hormona estimulante de la tiroides se normalizan sin tratamiento en las 3 semanas posteriores al nacimiento."},"it":{"name":"Ipotiroidismo congenito da assunzione materna di farmaci antitiroidei","definition":"L'ipotiroidismo congenito da assunzione materna di farmaci antitiroidei è un ipotiroidismo congenito raro, caratterizzato da ipotiroidismo primitivo transitorio, che esordisce in epoca prenatale o neonatale, a causa del passaggio transplacentare di farmaci antitiroidei assunti dalla madre. I pazienti possono presentare gozzo fetale o neonatale, pianto rauco, riduzione dei riflessi tendinei, difficoltà di alimentazione, costipazione, ittero protratto e/o distress respiratorio. I livelli elevati di T4 e dell'ormone tireostimolante di solito si normalizzano senza necessità di trattamento nelle prime tre settimane di vita."},"nl":{"name":"Congenitale hypothyreoïdie als gevolg van maternale inname van antischildkliergeneesmiddelen","definition":"Congenitale hypothyreoïdie als gevolg van maternale inname van antischildkliergeneesmiddelen is een zeldzame, congenitale hypothyreoïdie die gekarakteriseerd wordt door tijdelijke, primaire, foetale of neonatale hypothyreoïdie als gevolg van transfer doorheen de placenta van antischildkliergeneesmiddelen ingenomen door de moeder. Patiënten vertonen mogelijk ook foetaal of neonataal struma (schildkliervergroting), hees geween, verminderde peesreflexen, voedingsproblemen, constipatie, langdurige geelzucht en/of ademnood. Verhoogde gehaltes van T4 en thyreoïdstimulerend hormoon normaliseren meestal zonder behandeling binnen de eerste 3 weken na de geboorte."},"pt":{"name":"Hipotiroidismo congénito por ingestão materna de fármacos antitiroideus"},"pl":{"name":"Wrodzona niedoczynność tarczycy z powodu przyjmowania przez matkę leków przeciwtarczycowych","definition":"*Wrodzona niedoczynność tarczycy z powodu przyjmowania przez matkę leków przeciwtarczycowych jest rzadkim wrodzonym zaburzeniem funkcji tarczycy z jej niedoczynnością, która charakteryzuje się przemijającą, pierwotną, płodową lub noworodkową niedoczynnością tarczycy, wynikającą z przezłożyskowej ekspozycji na leki przeciwtarczycowe przyjmowane przez matkę. U pacjentów obserwuje się płodowe lub noworodkowe wole, ochrypły płacz, osłabienie odruchów ścięgnistych, trudności w karmieniu, zaparcia, przedłużającą się żółtaczkę i/lub niewydolność oddechową. Zazwyczaj podwyższone stężenie T4 oraz hormonu tyreotropowego ulega normalizacji bez leczenia w ciągu 3 tygodni po urodzeniu."},"cs":{"name":"Vrozená hypotyreóza způsobená matčiným užíváním antityreoidálních léků"},"uk":{"name":"Вроджений гіпотиреоз, спричинений прийомом антитиреоїдних препаратів матірю","definition":"A rare congenital hypothyroidism disorder characterized by transient, primary, fetal or neonatal hypothyroidism resulting from transplacental transfer of antithyroid drugs due to maternal intake. Patients may present fetal or neonatal goiter, hoarse cry, reduced tendon reflexes, feeding difficulty, constipation, prolonged jaundice and/or respiratory distress. Elevated levels of T4 and thyroid stimulating hormone usually normalize without treatment within 3 weeks of birth."},"zh":{"name":"母亲服用抗甲状腺药物所致先天性甲状腺功能减退症","definition":"母亲服用抗甲状腺药物所致先天性甲状腺功能减退症是一种罕见的先天性甲状腺功能减退症，其特征是由于母体摄入抗甲状腺药物并通过胎盘转移而引起的暂时性、原发性、胎儿或新生儿甲状腺功能减退。患者可能表现为胎儿或新生儿甲状腺肿、声音嘶哑、腱反射减弱、喂养困难、便秘、黄疸延长和/或呼吸窘迫。T4和促甲状腺激素水平升高通常在出生后3周内未经治疗即可恢复正常。"},"tr":{"name":"Maternal antitiroid ilaç alımına bağlı doğumsal hipotiroidi"}},"xrefs":[{"source":"ICD-10","code":"P72.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A00.03","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"809146001"},{"source":"MONDO","code":"0016413","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190849","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":238696,"name":"Transient congenital hypothyroidism due to maternal factor","classifications":[193]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-05-25","source":"5261[PMID]_31049292[PMID]_20537182[PMID]_32607131[PMID]","terms":[{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000851","label":"Congenital hypothyroidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031507","label":"Decreased circulating thyroxine level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002925","label":"Elevated circulating thyroid-stimulating hormone concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000853","label":"Goiter","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008820","label":"Absent ossification of capital femoral epiphysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002663","label":"Delayed epiphyseal ossification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100786","label":"Hypersomnia","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:0001520","label":"Large for gestational age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0500011","label":"Moon facies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001070","label":"Mottled pigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006579","label":"Prolonged neonatal jaundice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001538","label":"Protuberant abdomen","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001662","label":"Bradycardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004491","label":"Large posterior fontanelle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Occasional (29-5%)","criteria":null}]}}