{"orpha":329235,"name":"X-linked central congenital hypothyroidism with late-onset testicular enlargement","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["IGSF1 deficiency syndrome","X-linked central congenital hypothyroidism with late-onset macroorchidism"],"definition":"X-linked central congenital hypothyroidism with late-onset testicular enlargement is a rare, genetic, endocrine disease characterized by central hypothyroidism, testis enlargement in adolescence resulting in adult macroorchidism, delayed pubertal testosterone rise with a subsequent delayed pubertal growth spurt, small thyroid gland, and variable prolactin and growth hormone deficiency.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-329235/","orphanet_url":"https://www.orpha.net/en/disease/detail/329235","names":{"fr":{"name":"Hypothyroïdie congénitale centrale avec macroorchidie tardive liée à l'X","synonyms":["Syndrome par déficit en IGSF1"],"definition":"Maladie endocrinienne génétique rare, caractérisée par une hypothyroïdie d'origine centrale, une hypertrophie testiculaire à l'adolescence entraînant une macro-orchidie à l'âge adulte, une augmentation retardée de la testostérone à la puberté suivie d'une poussée de croissance pubertaire retardée, une glande thyroïde de petite taille et un déficit variable en prolactine et en hormone de croissance."},"de":{"name":"X-chromosomale kongenitale zentrale Hypothyreose mit spät-beginnender testikulärer Vergrößerung","synonyms":["IGSF1-Mangelsyndrom","X-chromosomale kongenitale zentrale Hypothyreose mit spät beginnender Makroorchidie"]},"es":{"name":"Hipotiroidismo congénito central ligado al cromosoma X con agrandamiento testicular de inicio tardío","synonyms":["Hipotiroidismo congénito central ligado al cromosoma X con macroorquidismo de inicio tardío","Síndrome de deficiencia de IGSF1"],"definition":"El hipotiroidismo congénito central ligado al cromosoma X con agrandamiento testicular de inicio tardío, es una enfermedad endocrina, genética y poco frecuente, caracterizada por hipotiroidismo central, agrandamiento de los testículos en la adolescencia que produce macroorquidia en el adulto y retraso puberal del aumento de testosterona, que conlleva retraso del estirón puberal, glándula hipofisaria pequeña, y deficiencia variable de prolactina y de hormona del crecimiento."},"it":{"name":"Ipotiroidismo congenito centrale legato all'X con ingrandimento testicolare ad esordio tardivo","synonyms":["Ipotiroidismo congenito centrale con macroorchidismo a esordio tardivo, legato all'X","Sindrome da deficit di IGSF1"],"definition":"L'ipotiroidismo congenito centrale legato all'X con ingrandimento dei testicoli ad esordio tardivo è una malattia endocrina genetica rara, caratterizzata da ipotiroidismo centrale, ingrandimento dei testicoli durante l'adolescenza, con conseguente macrorchidismo nell'età adulta, ritardato aumento puberale del testosterone, con conseguente ritardo dello scatto della crescita puberale, dimensioni ridotte della tiroide e deficit variabile della prolattina e dell'ormone della crescita."},"nl":{"name":"X-gebonden centrale congenitale hypothyreoïdie met laat optredende testesvergroting","synonyms":["IGSF1-deficiëntiesyndroom","X-gebonden centrale congenitale hypothyreoïdie met laat optredend macro-orchidisme","X-gebonden centrale congenitale hypothyreoïdie met laat optredende macro-orchidie"],"definition":"X-gebonden centrale congenitale hypothyreoïdie met laat beginnende testesvergroting is een zeldzame, genetische, endocriene ziekte die gekarakteriseerd wordt door centrale hypothyreoïdie, vergroting van de testes tijdens de adolescentie met macro-orchidie in de volwassenheid tot gevolg, vertraagde toename van het testosterongehalte tijdens de puberteit en daaropvolgende vertraging van de puberale groeispurt, kleine schildklier, en variabele deficiëntie van prolactine en groeihormoon."},"pt":{"name":"Hipotiroidismo central congénito com aumento testicular de início tardio ligado ao X"},"pl":{"name":"Ośrodkowa wrodzona niedoczynność tarczycy sprzężona z chromosomem X z powiększeniem jąder o późnym początku","synonyms":["Ośrodkowa wrodzona niedoczynność tarczycy sprzężona z chromosomem X z makroorchidyzmem o późnym początku","Zespół niedoboru IGSF1"],"definition":"*Ośrodkowa wrodzona niedoczynność tarczycy sprzężona z chromosomem X z powiększeniem jąder o późnym początku jest rzadką, genetycznie uwarunkowaną chorobą endokrynologiczną, która charakteryzuje się ośrodkową niedoczynnością tarczycy, powiększeniem jąder w okresie dojrzewania prowadzącym do makroorchidyzmu u dorosłych, opóźnionym wzrostem stężenia testosteronu w okresie pokwitania, co w konsekwencji prowadzi do opóźnienia pokwitaniowego skoku wzrostu, małą tarczycą i zmiennym niedoborem prolaktyny i hormonu wzrostu."},"cs":{"name":"X-vázaná centrální vrozená hypotyreóza s testikulárním zvětšením s pozdním začátkem","synonyms":["Syndrom IGSF1 deficitu","X-vázaná centrální vrozená hypotyreóza s makroorchidismem s pozdním začátkem"]},"uk":{"name":"Х-зчеплений центральний вроджений гіпотиреоз із пізнім збільшенням яєчок","synonyms":["Синдром дефіциту IGSF1","Х-зчеплений центральний вроджений гіпотиреоз з пізнім макроорхізмом"],"definition":"X-linked central congenital hypothyroidism with late-onset testicular enlargement is a rare, genetic, endocrine disease characterized by central hypothyroidism, testis enlargement in adolescence resulting in adult macroorchidism, delayed pubertal testosterone rise with a subsequent delayed pubertal growth spurt, small thyroid gland, and variable prolactin and growth hormone deficiency."},"zh":{"name":"X连锁中枢性先天性甲减和迟发性睾丸肥大","synonyms":["X连锁中枢性先天性甲减和迟发性巨睾丸"],"definition":"x连锁中枢性先天性甲状腺功能减退伴晚发性睾丸肿大是一种罕见的遗传性内分泌疾病，其特点是中枢性甲减,青春期睾丸肿大导致成人巨睾丸畸形,青春期睾酮上升延迟及随后出现青春期发育延迟,甲状腺体积小,多种情况的催乳素和生长激素缺乏症。"},"tr":{"name":"X'e bağlı merkezi doğumsal hipotiroidi ile seyreden geç başlangıçlı testis büyümesi","synonyms":["IGSF1 eksikliği sendromu","X'e bağlı merkezi doğumsal hipotiroidi ve geç başlangıçlı makroorşidi"]}},"xrefs":[{"source":"OMIM","code":"300888","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E03.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A61.41","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010475","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749943","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":"IGSF1","name":"immunoglobulin superfamily member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23143598[PMID]","hgnc":"5948","ensembl":"ENSG00000147255","omim":"300137","loci":["Xq26.1"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":27.0,"area":"Worldwide","status":"Validated","source":"23143598[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}