{"orpha":91347,"name":"TSH-secreting pituitary adenoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Thyrotroph adenoma","Pituitary thyrotrophic adenoma","TSH-oma","Thyroid stimulating hormone-secreting pituitary adenoma"],"definition":"A rare, functioning, pituitary adenoma characterized by the presence of a pituitary mass associated with high levels of circulating, free, thyroid hormones in conjunction with normal to high levels of TSH and unresponsiveness of TSH levels to TRH stimulation and T3 suppression tests, typically manifesting with signs and symptoms of mild to moderate hyperthyroidism (e.g. goiter (most frequently observed), palpitation, excessive sweating, arrhythmia, weight loss, tremor) and/or tumor mass effect (such as headache, visual field defects, hypopituitarism). Occasionally, cosecretion of prolactin and/or growth hormone may cause galactorrhea and/or acromegaly.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-91347/","orphanet_url":"https://www.orpha.net/en/disease/detail/91347","names":{"fr":{"name":"Adénome thyréotrope","synonyms":["Adénome hypophysaire à TSH","Adénome hypophysaire à thyréostimuline","Adénome thyréotrope hypophysaire"],"definition":"Adénome hypophysaire fonctionnel rare caractérisé par la présence d'une masse hypophysaire associée à des taux circulant d'hormones thyroïdiennes élevés en association avec des taux de TSH normaux à élevés et à une absence de réponse de la TSH à la stimulation à la TRH et aux tests de freinage par T3, se manifestant généralement par des signes et des symptômes d'hyperthyroïdie légère à modérée (par exemple, goitre [manifestation la plus fréquente], palpitations, transpiration excessive, arythmie, perte de poids, tremblements) et/ou d'un effet de masse tumorale (à savoir céphalées, anomalies du champ visuel, hypopituitarisme). Occasionnellement, l'association avec la sécrétion de prolactine et/ou d'hormone de croissance peut provoquer une galactorrhée et/ou une acromégalie."},"de":{"name":"Hypophysenadenom, TSH-sezernierendes","synonyms":["Adenom, thyreotropes","Hypophysenadenom, thyreotropes","TSHom"],"definition":"Ein seltenes, hormonaktives Hypophysenadenom, das durch das Vorhandensein einer Hypophysenmasse gekennzeichnet ist, die mit hohen Spiegeln zirkulierender freier Schilddrüsenhormone in Verbindung mit normalen bis hohen TSH-Spiegeln und Unempfindlichkeit der TSH-Spiegel auf TRH-Stimulation und T3-Suppressionstests einhergeht. Typischerweise präsentieren sich die Patienten mit Anzeichen und Symptomen einer leichten bis mittelschweren Schilddrüsenüberfunktion (z. B. Kropf (am häufigsten beobachtet), Herzklopfen, übermäßiges Schwitzen, Herzrhythmusstörungen, Gewichtsverlust, Tremor) und/oder Tumormasseneffekt (wie Kopfschmerzen, Gesichtsfelddefekte, Hypopituitarismus). Gelegentlich kann die Kosekretion von Prolaktin und/oder Wachstumshormon Galaktorrhoe und/oder Akromegalie verursachen."},"es":{"name":"Adenoma hipofisario secretor de TSH","synonyms":["Adenoma hipofisario secretor de la hormona estimulante de la tiroides","Adenoma hipofisario tirotrófico","Adenoma tirotrófico","TSH-oma"],"definition":"Es un adenoma hipofisario funcionante poco frecuente caracterizado por la presencia de una masa hipofisaria asociada a niveles elevados de hormonas tiroideas libres circulantes, junto con niveles de TSH que varían de normales a elevados y ausencia de respuesta de la TSH a la prueba de estimulación con TRH y a la prueba de supresión de T3. Típicamente se manifiesta con signos y síntomas de hipertiroidismo de leve a moderado (p. ej. bocio (síntoma más frecuente), palpitaciones, sudoración excesiva, arritmia, pérdida de peso, temblor) y/o de efecto masa (tales como cefalea, alteraciones del campo visual, hipopituitarismo). Ocasionalmente, la co-secreción de prolactina y/u hormona de crecimiento puede causar galactorrea y/o acromegalia."},"it":{"name":"Adenoma ipofisario secernente TSH","synonyms":["Adenoma ipofisario secernente l'ormone stimolante la tiroide","Adenoma tireotropo","Adenoma tireotropo ipofisario","TSH-oma"],"definition":"È un adenoma ipofisario funzionante raro, caratterizzato dalla presenza di una massa nell'ipofisi, associata a livelli elevati di ormoni tiroidei liberi circolanti e livelli normali o elevati di TSH, in assenza di risposta dei livelli di TSH ai test di stimolazione con TRH e di soppressione di T3. Di solito esordisce con i segni clinici caratteristici dell'ipertiroidismo moderato, ad esempio il gozzo (spesso presente), le palpitazioni, l'aumento della sudorazione, l'aritmia, la perdita di peso e i tremori, e/o con i sintomi secondari alla presenza di una massa tumorale (cefalea, difetti del campo visivo, ipopituitarismo). Occasionalmente, la secrezione concomitante di prolattina e/o dell'ormone della crescita può causare galattorrea e/o acromegalia."},"nl":{"name":"TSH-secreterend hypofyseadenoom","synonyms":["TSHoom","Thyreotroop adenoom","Thyreotroop hypofyseadenoom","Thyreoïdstimulerend hormoon-secreterend hypofyseadenoom"],"definition":"Een zeldzaam, functionerend hypofyseadenoom dat gekarakteriseerd wordt door de aanwezigheid van een massa in de hypofyse, geassocieerd met hoge gehaltes circulerende, vrije schildklierhormonen in combinatie met normale tot hoge gehaltes TSH en TSH-gehaltes die niet reageren op de TRH-stimulatietest en de T3-suppressietest, en dat zich doorgaans manifesteert met tekenen en symptomen van milde tot matige hypothyreoïdie (e.g. struma (meest frequent waargenomen), hartkloppingen, overmatig zweten, aritmie, gewichtsverlies, tremor) en/of van het massa-effect van de tumor (zoals hoofdpijn, gezichtsvelddefecten, hypopituïtarisme). Occasioneel kan co-secretie van prolactine en/of groeihormoon galactorroe en/of acromegalie veroorzaken."},"pt":{"name":"Adenoma hipofisário secretor de TSH","synonyms":["Adenoma tireotrófico"]},"pl":{"name":"Gruczolak przysadki wydzielający TSH","synonyms":["Gruczolak przysadki wydzielający hormon tyreotropowy","Gruczolak przysadki wydzielający tyreotropinę","Gruczolak tyreotropowy","TSH-oma"]},"cs":{"name":"Adenom hypofýzy produkující TSH","synonyms":["Tyreotropní adenom hypofýzy"]},"uk":{"name":"Аденома гіпофіза, що секретує ТТГ","synonyms":["Тиреотрофічна аденома гіпофіза","Аденома гіпофіза, що секретує тиреотропний гормон","Аденома щитоподібної залози","ТТГ-ома"],"definition":"A rare, functioning, pituitary adenoma characterized by the presence of a pituitary mass associated with high levels of circulating, free, thyroid hormones in conjunction with normal to high levels of TSH and unresponsiveness of TSH levels to TRH stimulation and T3 suppression tests, typically manifesting with signs and symptoms of mild to moderate hyperthyroidism (e.g. goiter (most frequently observed), palpitation, excessive sweating, arrhythmia, weight loss, tremor) and/or tumor mass effect (such as headache, visual field defects, hypopituitarism). Occasionally, cosecretion of prolactin and/or growth hormone may cause galactorrhea and/or acromegaly."},"zh":{"name":"促甲状腺素分泌型垂体腺瘤","synonyms":["促甲状腺素分泌型垂体腺瘤"]},"tr":{"name":"TSH salgılayan hipofiz adenomu","synonyms":["TSH-oma","Tirotrof adenom","Hipofiz tirotrofik adenom","Tiroid uyarıcı hormon salgılayan hipofiz adenomu"]}},"xrefs":[{"source":"ICD-10","code":"D35.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2F37.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"125504731"},{"source":"MONDO","code":"0019611","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0346303","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":314753,"name":"Functioning pituitary adenoma","classifications":[193,202]},{"orpha":715120,"name":"Hyperpituitarism","classifications":[193]}],"children":[],"genes":[{"symbol":"CDH23","name":"cadherin related 23","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"28413019[PMID]","hgnc":"13733","ensembl":"ENSG00000107736","omim":"605516","loci":["10q22.1"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.28,"area":"Sweden","status":"Validated","source":"23295463[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-04-11","source":"8768879[PMID]_24552222[PMID]_6810781[PMID]_1704010[PMID]_19098060[PMID]_25237847[PMID]_26765410[PMID]_6338852[PMID]_9735086[PMID]_10566620[PMID]_1704011[PMID]_12544087[PMID]_15545848[PMID]","terms":[{"hpo":"HP:0012503","label":"Abnormality of the pituitary gland","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:0012505","label":"Enlarged pituitary gland","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000853","label":"Goiter","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000836","label":"Hyperthyroidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011362","label":"Abnormal hair quantity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000140","label":"Abnormality of the menstrual cycle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011748","label":"Adrenocorticotropic hormone deficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011735","label":"Adrenocorticotropin deficient adrenal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011734","label":"Central adrenal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002920","label":"Decreased circulating ACTH level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030018","label":"Decreased female libido","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000868","label":"Decreased fertility in females","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012041","label":"Decreased fertility in males","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003388","label":"Easy fatigability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100639","label":"Erectile dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000134","label":"Female hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000771","label":"Gynecomastia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000044","label":"Hypogonadotropic hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002615","label":"Hypotension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000802","label":"Impotence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000858","label":"Irregular menstruation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000026","label":"Male hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001962","label":"Palpitations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000529","label":"Progressive visual loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008240","label":"Secondary growth hormone deficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011782","label":"Thyroid crisis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006897","label":"Abducens palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030588","label":"Abnormal visual field test","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030521","label":"Bitemporal hemianopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000845","label":"Elevated circulating growth hormone concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008247","label":"Euthyroid hyperthyroxinemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007011","label":"Fourth cranial nerve palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012377","label":"Hemianopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030517","label":"Heteronymous hemianopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002900","label":"Hypokalemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000837","label":"Increased circulating gonadotropin level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000870","label":"Increased circulating prolactin concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000789","label":"Infertility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007942","label":"Internal ophthalmoplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012246","label":"Oculomotor nerve palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001698","label":"Pericardial effusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008153","label":"Periodic hypokalemic paresis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001117","label":"Sudden loss of visual acuity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005115","label":"Supraventricular arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004308","label":"Ventricular arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Occasional (29-5%)","criteria":null}]}}