{"orpha":91354,"name":"Pituitary deficiency due to empty sella turcica syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hypopituitarism due to empty sella turcica syndrome"],"definition":"A rare pituitary deficiency characterized by herniation of the subarachnoid space into the sella turcica, resulting in flattening of the pituitary gland and endocrine dysfunction. Most common endocrine abnormalities are hyperprolactinemia and growth hormone deficit. Clinical symptoms are highly variable and include headaches, irregular menstruation, galactorrhea, obesity, and visual disturbances, among others.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-91354/","orphanet_url":"https://www.orpha.net/en/disease/detail/91354","names":{"fr":{"name":"Déficit hypophysaire associé au syndrome de la selle turcique vide","synonyms":["Hypopituitarisme associé au syndrome de la selle turcique vide"],"definition":"Déficit hypophysaire rare caractérisé par une hernie de l'espace sous-arachnoïdien dans la selle turcique, entraînant un aplatissement de l'hypophyse et un dysfonctionnement endocrinien. Les anomalies endocriniennes les plus courantes sont l'hyperprolactinémie et le déficit en hormone de croissance. Les signes cliniques sont très variables et incluent, entre autres, des maux de tête, un cycle menstruel irrégulier, la galactorrhée, l'obésité et des troubles de la vision."},"de":{"name":"Hypophysenfunktionsstörung durch Empty-Sella-Syndrom","definition":"Ein seltener Hypophysenmangel, der durch eine Herniation des Subarachnoidalraums in die Sella turcica gekennzeichnet ist und zu einer Abflachung der Hypophyse und einer endokrinen Dysfunktion führt. Die häufigsten endokrinen Anomalien sind Hyperprolaktinämie und Wachstumshormonmangel. Die klinischen Symptome sind sehr unterschiedlich und umfassen u. a. Kopfschmerzen, unregelmäßige Menstruation, Galaktorrhoe, Adipositas und Sehstörungen."},"es":{"name":"Deficiencia hipofisaria por el síndrome de la silla turca vacía","definition":"Es una deficiencia hipofisaria poco frecuente caracterizada por la herniación del espacio subaracnoideo hacia la silla turca, lo que resulta en un adelgazamiento de la glándula pituitaria y disfunción endocrina. Las anomalías endocrinas más comunes son la hiperprolactinemia y el déficit de la hormona del crecimiento. Los síntomas clínicos son muy variables e incluyen cefaleas, metrorragia, galactorrea, obesidad y alteraciones visuales, entre otros."},"it":{"name":"Deficit ipofisario da sindrome della sella turcica vuota","definition":"Si tratta di un deficit ipofisario raro, caratterizzato dall'erniazione dello spazio subaracnoideo nella sella turcica, che esita nell'appiattimento dell'ipofisi e nella sua disfunzione endocrina. Le anomalie endocrine più comuni sono l'iperprolattinemia e il deficit dell'ormone della crescita. I segni clinici sono molto variabili e comprendono la cefalea, le mestruazioni irregolari, la galattorrea, l'obesità e i disturbi visivi."},"nl":{"name":"Hypofysedeficiëntie door lege sella turcica-syndroom","synonyms":["Hypopituïtarisme door lege sella turcica-syndroom"],"definition":"Een zeldzame hypofysedeficiëntie, gekarakteriseerd door herniatie van subarachnoïdale ruimte in sella turcica, wat resulteert in afvlakking van hypofyse en endocriene disfunctie. De meest gangbare endocriene afwijkingen zijn hyperprolactinemie en deficiëntie van groeihormoon. Klinische symptomen zijn hoogst variabel, en omvatten onder meer hoofdpijn, onregelmatige menstruatie, galactorroe, obesitas, en visuele stoornissen."},"pt":{"name":"Síndrome de deficiência pituitária por sela turca vazia"},"pl":{"name":"Niedoczynność przysadki spowodowana zespołem pustego siodła tureckiego","synonyms":["Hypopituitarism due to empty sella turcica syndrome"]},"cs":{"name":"Hypofyzární deficit způsobený syndromem prázdného tureckého sedla","synonyms":["Hypopituitarismus způsobený syndromem prázdného tureckého sedla"]},"uk":{"name":"Гіпофізарний дефіцит при синдромі порожнього турецького сідла","synonyms":["Гіпопітуїтаризм внаслідок синдрому порожнього селлового міхура"],"definition":"A rare pituitary deficiency characterized by herniation of the subarachnoid space into the sella turcica, resulting in flattening of the pituitary gland and endocrine dysfunction. Most common endocrine abnormalities are hyperprolactinemia and growth hormone deficit. Clinical symptoms are highly variable and include headaches, irregular menstruation, galactorrhea, obesity, and visual disturbances, among others."},"zh":{"name":"空泡蝶鞍综合征所致垂体缺陷","synonyms":["空蝶鞍综合征所致垂体功能减退症"]},"tr":{"name":"Boş sella tursika sendromuna bağlı hipofiz yetmezliği","synonyms":["Boş sella tursika sendromuna bağlı hipopituitarizm"]}},"xrefs":[{"source":"ICD-10","code":"E23.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A61.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"309067714"},{"source":"MONDO","code":"0019617","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4275064","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":95505,"name":"Pituitary hormone deficiency of meningeal origin","classifications":[193]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult","Elderly"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-03-20","source":"17643081[PMID]_2221821[PMID]_23617499[PMID]_26871784[PMID]_17635438[PMID]_3417843[PMID]_1914345[PMID]_10584841[PMID]_6286712[PMID]_16304986[PMID]_10424206[PMID]_15972577[PMID]_19352054[PMID]_910813[PMID]","terms":[{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000802","label":"Impotence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000876","label":"Oligomenorrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011446","label":"Abnormality of higher mental function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002921","label":"Abnormality of the cerebrospinal fluid","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011748","label":"Adrenocorticotropic hormone deficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000824","label":"Decreased response to growth hormone stimulation test","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040075","label":"Hypopituitarism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000870","label":"Increased circulating prolactin concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008245","label":"Pituitary hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030532","label":"Visual acuity test abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000863","label":"Central diabetes insipidus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002902","label":"Hyponatremia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002615","label":"Hypotension","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100661","label":"Trigeminal neuralgia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002893","label":"Pituitary adenoma","frequency":"Excluded (0%)","criteria":null}]}}