{"orpha":199299,"name":"Late-onset isolated ACTH deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Late-onset isolated ACTH deficiency is a rare, acquired, pituitary hormone deficiency characterized by secondary adrenal insufficiency, with normal secretion of anterior pituitary hormones, except for ACTH. Patients present with weakness, fatigue, weight loss, anorexia, vomiting/nausea, hypoglycemia, and abnormally low serum ACTH and cortisol levels. Association with autoimmune disease such as Hashimoto's thyroiditis has been described.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-199299/","orphanet_url":"https://www.orpha.net/en/disease/detail/199299","names":{"fr":{"name":"Déficit isolé tardif en ACTH","definition":"Déficit hypophysaire rare et acquis, caractérisé par une insuffisance surrénalienne secondaire, avec une sécrétion normale d'hormones, à l'exception de l'ACTH, par le lobe antérieur de l'hypophyse. Les patients présentent une faiblesse, une fatigue, une perte de poids, une anorexie, des vomissements, des nausées, une hypoglycémie et des taux sériques d'ACTH et de cortisol anormalement bas. L'association avec des maladies auto-immunes telles que la thyroïdite de Hashimoto a été décrite."},"de":{"name":"ACTH-Mangel, isolierter, spät beginnender"},"es":{"name":"Deficiencia de ACTH aislada de inicio tardío","definition":"La deficiencia de ACTH aislada de inicio tardío es una deficiencia de hormona hipofisaria adquirida y poco frecuente, caracterizada por insuficiencia suprarrenal secundaria, con secreción normal de hormonas de la hipófisis anterior, excepto de ACTH. Los afectados presentan debilidad, fatiga, pérdida de peso, anorexia, vómitos / náuseas, hipoglucemia y niveles séricos de ACTH y cortisol anormalmente bajos. Se ha descrito asociación con enfermedades autoinmunes, tales como la tiroiditis de Hashimoto."},"it":{"name":"Deficit isolato di ACTH a esordio tardivo","definition":"Il deficit isolato di ACTH ad esordio tardivo è un difetto raro acquisito dell'ormone ipofisario, caratterizzato da insufficienza surrenalica secondaria, con secrezione normale degli ormoni dell'ipofisi anteriore, ad eccezione dell'ACTH. I pazienti presentano debolezza, affaticamento, perdita di peso, anoressia, vomito/nausea, ipoglicemia e livelli abnormemente bassi di ACTH e cortisolo nel siero. Può associarsi alle malattie autoimmuni come la tiroidite di Hashimoto."},"nl":{"name":"Geïsoleerde ACTH-deficiëntie met late aanvang","definition":"Geïsoleerde ACTH-deficiëntie met late aanvang is een zeldzame, verworven hypofysehormoondeficiëntie die gekarakteriseerd wordt door secundaire bijnierschorsinsufficiëntie met normale secretie van hormonen door de adenohypofyse met uitzondering van ACTH. Patiënten vertonen zwakheid, vermoeidheid, gewichtsverlies, anorexie, braken/misselijkheid, hypoglycemie, en abnormaal lage gehaltes van ACTH en cortisol in het serum. Er werd associatie met auto-immuunziekte zoals thyreoïditis van Hashimoto beschreven."},"pt":{"name":"Deficiência de ACTH isolada de início tardio"},"pl":{"name":"Izolowany Niedobór ACTH o późnym początku","definition":"*Izolowany niedobór ACTH o późnym początku jest rzadkim, nabytym niedoborem hormonu przysadki, który charakteryzuje się wtórną niewydolnością kory nadnerczy, z prawidłowym wydzielaniem hormonów przedniego płata przysadki, z wyjątkiem ACTH. Objawy kliniczne obserwowane u pacjentów to osłabienie, zmęczenie, chudnięcie, jadłowstręt, wymioty/nudności, hipoglikemia i nieprawidłowo niskie stężenia ACTH i kortyzolu w surowicy. Opisano związek z chorobami autoimmunologicznymi, takimi jak przewlekłe zapalenie tarczycy typu Hashimoto."},"cs":{"name":"Izolovaný deficit ACTH s pozdním nástupem"},"uk":{"name":"Пізній початок ізольованого дефіциту АКТГ","definition":"Late-onset isolated ACTH deficiency is a rare, acquired, pituitary hormone deficiency characterized by secondary adrenal insufficiency, with normal secretion of anterior pituitary hormones, except for ACTH. Patients present with weakness, fatigue, weight loss, anorexia, vomiting/nausea, hypoglycemia, and abnormally low serum ACTH and cortisol levels. Association with autoimmune disease such as Hashimoto's thyroiditis has been described."},"zh":{"name":"迟发性单独促肾上腺皮质激素缺乏症","definition":"晚发性孤立性ACTH缺乏症是一种罕见的以继发性肾上腺功能不全为特征的获得性垂体激素缺乏症，除ACTH外，垂体前叶激素分泌正常，其主要临床表现为表现为虚弱、疲劳、体重减轻、厌食、呕吐/恶心、低血糖和血浆ACTH和皮质醇水平明显降低。与自身免疫性疾病如桥本甲状腺炎有关。"},"tr":{"name":"Geç başlangıçlı izole ACTH eksikliği"}},"xrefs":[{"source":"ICD-10","code":"E23.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A61.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1651831896"},{"source":"MONDO","code":"0016042","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751433","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":95502,"name":"Acquired pituitary hormone deficiency","classifications":[193]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-09-02","source":"19110973[PMID]_2545769[PMID]_17371483[PMID]_10209566[PMID]_20400889[PMID]_12911282[PMID]","terms":[{"hpo":"HP:0011748","label":"Adrenocorticotropic hormone deficiency","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0011735","label":"Adrenocorticotropin deficient adrenal insufficiency","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0008163","label":"Decreased circulating cortisol level","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002920","label":"Decreased circulating ACTH level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002615","label":"Hypotension","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100647","label":"Graves disease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000872","label":"Hashimoto thyroiditis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002149","label":"Hyperuricemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002902","label":"Hyponatremia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011134","label":"Low-grade fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001972","label":"Macrocytic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001897","label":"Normocytic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008209","label":"Premature ovarian insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100651","label":"Type I diabetes mellitus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002608","label":"Celiac disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006462","label":"Generalized bone demineralization","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012115","label":"Hepatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003072","label":"Hypercalcemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000829","label":"Hypoparathyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001880","label":"Increased total eosinophil count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001278","label":"Orthostatic hypotension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001045","label":"Vitiligo","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002893","label":"Pituitary adenoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100806","label":"Sepsis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002153","label":"Hyperkalemia","frequency":"Excluded (0%)","criteria":null}]}}