{"orpha":467,"name":"Non-acquired combined pituitary hormone deficiency","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Congenital combined pituitary hormone deficiency","Congenital hypopituitarism"],"definition":"A group of rare disorders characterized by multiple pituitary hormone deficiencies, including somatotropin, thyrotropin, lactotropin, corticotropin and gonadotropin deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Clinical presentation varies depending on the type and severity of the deficiencies as well as the age at diagnosis. If left untreated, the main symptoms include short stature, cognitive impairment and delayed puberty.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-467/","orphanet_url":"https://www.orpha.net/en/disease/detail/467","names":{"fr":{"name":"Insuffisance hypophysaire multiple non acquise","synonyms":["Hypopituitarisme congénital","Insuffisance hypophysaire multiple congénitale"],"definition":"Les insuffisances antéhypophysaires d'origine génétique sont caractérisées par l'association de déficits hormonaux de plusieurs des lignées antéhypophysaires : somatotrope (GH), thyréotrope (TSH), lactotrope (PRL), corticotrope (ACTH), gonadotrope (LH et FSH). Ces déficits sont liés à des mutations de facteurs de transcription impliqués dans l'ontogénèse hypophysaire."},"de":{"name":"Hypophysenhormon-Mangel, kombinierter, nicht-erworbener","synonyms":["Hypophysenhormon-Mangel, kombinierter kongenitaler","Hypopituitarismus, kongenitaler"],"definition":"Eine Gruppe seltener Störungen, die durch multiple Hypophysenhormonmängel gekennzeichnet sind, darunter Somatotropin-, Thyrotropin-, Laktotropin-, Kortikotropin- und Gonadotropinmangel, aufgrund von Mutationen der Hypophysentranskriptionsfaktoren, die an der Hypophysenontogenese beteiligt sind. Das klinische Erscheinungsbild variiert je nach Art und Schweregrad der Mängel sowie dem Alter bei der Diagnose. Unbehandelt sind die Hauptsymptome Kleinwuchs, kognitive Beeinträchtigungen und verzögerte Pubertät."},"es":{"name":"Deficiencia combinada no adquirida de hormonas hipofisarias","synonyms":["Deficiencia combinada congénita de hormonas hipofisarias"],"definition":"Es un grupo de trastornos poco frecuentes caracterizados por deficiencias múltiples de hormonas hipofisarias, incluyendo somatotropina, tirotropina, lactotropina, corticotropina y gonadotropina, debido a mutaciones de factores de transcripción hipofisarios involucrados en la ontogénesis hipofisaria. La presentación clínica varía según el tipo y la gravedad de las deficiencias, así como la edad al momento del diagnóstico. Sin tratamiento, los síntomas principales incluyen talla baja, alteraciones cognitivas y retraso puberal."},"it":{"name":"Deficit combinato non acquisito dell'ormone ipofisario"},"nl":{"name":"Niet-verworven gecombineerde hypofysehormoondeficiëntie","synonyms":["Congenitaal hypopituïtarisme","Congenitale gecombineerde hypofysehormoondeficiëntie"],"definition":"Een groep van zeldzame aandoeningen, gekenmerkt door meervoudige deficiëntie van hypofysehormoon, waaronder deficiëntie van somatotropine, thyrotropine, prolactine, corticotropine en gonadotropine, als gevolg van mutaties van transcriptiefactoren van de hypofyse die een rol spelen in de ontogenese van de hypofyse. De klinische presentatie varieert naargelang het type en de ernst van deficiënties, alsook van de leeftijd bij diagnose. Zonder behandeling zijn de voornaamste symptomen kleine gestalte, cognitieve stoornis en uitgestelde puberteit."},"pt":{"name":"Deficiência de hormona hipofisária combinada não-adquirida","synonyms":["Deficiência de hormona hipofisária combinada congénita","Hipopituitarismo congénito"]},"pl":{"name":"Nienabyty złożony Niedobór hormonów przysadki","synonyms":["Dziedziczny złożony Niedobór hormonów przysadki","Wrodzona niedoczynność przysadki"]},"cs":{"name":"Nezískaný kombinovaný deficit hypofyzárních hormonů","synonyms":["Vrozený hypopituitarismus","Vrozený kombinovaný deficit hypofyzárních hormonů"]},"uk":{"name":"Ненабутий комбінований дефіцит гормонів гіпофіза","synonyms":["Вроджений комбінований дефіцит гормонів гіпофіза","Вроджений гіпопітуїтаризм"],"definition":"Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis."},"zh":{"name":"非获得性联合垂体激素缺乏症","synonyms":["先天性联合垂体激素缺乏症"]},"tr":{"name":"Edinsel olmayan kombine hipofiz hormon eksikliği","synonyms":["Doğumsal hipopituitarizm","Doğumsal kombine hipofiz hormonu eksikliği"]}},"xrefs":[{"source":"MONDO","code":"0018762","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18762","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680091","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2252","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":95488,"name":"Non-acquired pituitary hormone deficiency","classifications":[156,193]}],"children":[{"orpha":95495,"name":"Disease associated with non-acquired combined pituitary hormone deficiency","type":"Category"},{"orpha":178025,"name":"Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["All ages"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":29.0,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":null}