{"orpha":168588,"name":"Hyperandrogenism due to cortisone reductase deficiency","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["11-beta-hydroxysteroid dehydrogenase deficiency type 1"],"definition":"A rare, genetic, endocrine disease characterized by defect in conversion of cortisone to active cortisol, resulting in ACTH-mediated excessive androgen release from adrenal glands. Premature adrenarche is typical with precocious pseudopuberty, proportionate tall stature and accelerated bone maturation in males, and hirsutism, oligoamenorrhea, central obesity and infertility in females. Imaging studies may indicate adrenal hyperplasia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-168588/","orphanet_url":"https://www.orpha.net/en/disease/detail/168588","names":{"fr":{"name":"Hyperandrogénie par déficit en cortisone réductase","synonyms":["Déficit en 11-bêta-hydroxystéroïde déshydrogénase type 1"],"definition":"Maladie endocrinienne génétique rare caractérisée par un défaut de conversion de la cortisone en cortisol actif, entraînant une libération excessive d'androgènes par les glandes surrénales sous l'effet de l'ACTH. Une adrénarche prématurée est typique et s'accompagne d'une pseudopuberté précoce, d'une grande taille proportionnelle et d'une maturation osseuse accélérée chez les hommes, et d'un hirsutisme, d'une oligoaménorrhée, d'une obésité centrale et d'une infertilité chez les femmes. Les examens d'imagerie diagnostique peuvent indiquer une hyperplasie des surrénales."},"de":{"name":"Hyperandrogenismus durch Cortison-Reduktase-Mangel","synonyms":["11-beta-Hydroxysteroid-Dehydrogenase-Mangel Typ 1"]},"es":{"name":"Hiperandrogenismo por deficiencia de cortisona reductasa","synonyms":["Deficiencia de 11-beta-hidroxiesteroide deshidrogenasa tipo 1","Deficiencia de 11-beta-hidroxiesteroide deshidrogenasa tipo I"],"definition":"Es una enfermedad endocrina, genética y poco frecuente, caracterizada por un defecto en la conversión de cortisona a cortisol activo que resulta en una liberación excesiva de andrógenos mediada por ACTH en las glándulas suprarrenales. Asocia típicamente adrenarquia prematura con pseudo-pubertad precoz, talla alta proporcionada y maduración ósea acelerada en varones, e hirsutismo, oligomenorrea, obesidad central e infertilidad en mujeres. Los estudios de imagen pueden indicar hiperplasia suprarrenal."},"it":{"name":"Iperandrogenismo da deficit di cortisone reduttasi","synonyms":["Deficit di 11-beta-idrossisteroido deidrogenasi, tipo 1"],"definition":"È una malattia endocrina genetica rara, caratterizzata da un difetto nella conversione del cortisone in cortisolo attivo, che causa un rilascio eccessivo di androgeno mediato da ACTH da parte delle ghiandole surrenali. Un segno clinico caratteristico è l'adrenarca precoce, associato a pseudopubertà, statura alta proporzionata e accelerazione della maturazione ossea nei maschi, mentre nelle femmine si associa ad obesità centrale e infertilità. Le immagini diagnostiche possono evidenziare iperplasia dei surreni."},"nl":{"name":"Hyperandrogenisme door cortisonereductasedeficiëntie","synonyms":["11-bèta-hydroxysteroïdedehydrogenasedeficiëntie type 1"],"definition":"Een zeldzame, genetische, endocriene ziekte die gekarakteriseerd wordt door een defect in de omzetting van cortison tot actieve cortisol, wat leidt tot ACTH-gemedieerde overmatige vrijzetting van androgenen uit de bijnieren. Premature adrenarche is typisch met vroegtijdige pseudopuberteit, proportioneel grote gestalte en versnelde botmaturatie bij mannen, en hirsutisme, oligomenorroe, centrale obesitas en onvruchtbaarheid bij vrouwen. Beeldvormingsonderzoek kan wijzen op adrenale hyperplasie."},"pt":{"name":"Hiperandrogenismo por deficiência de cortisona-reductase"},"pl":{"name":"Hiperandrogenizm z powodu niedoboru reduktazy kortyzonu","synonyms":["Niedobór dehydrogenazy 11-beta-hydroksysteroidowej typu 1"]},"cs":{"name":"Hyperandrogenismus způsobený deficitem kortison reduktázy","synonyms":["Deficit 11-beta-hydroxysteroid dehydrogenázy, typ 1"]},"uk":{"name":"Гіперандрогенія внаслідок дефіциту кортизонредуктази","synonyms":["Дефіцит 11-бета-гідроксистероїддегідрогенази типу 1"],"definition":"A rare, genetic, endocrine disease characterized by defect in conversion of cortisone to active cortisol, resulting in ACTH-mediated excessive androgen release from adrenal glands. Premature adrenarche is typical with precocious pseudopuberty, proportionate tall stature and accelerated bone maturation in males, and hirsutism, oligoamenorrhea, central obesity and infertility in females. Imaging studies may indicate adrenal hyperplasia."},"zh":{"name":"皮质醇还原酶缺乏所致高雄激素血症","synonyms":["11-β-羟基固醇脱氢酶缺乏症1型"],"definition":"可的松还原酶缺乏所致雄激素增多症一种罕见的遗传性内分泌疾病，其特征是可的松转化障碍，不能转化为更具活性的氢化可的松，导致促肾上腺皮质激素介导的肾上腺雄激素增多症。男性在早期生活肿表现为早熟的假性青春期，身材高大匀称，骨发育成熟加快。女性出现多毛症，月经稀发，向心性肥胖和不孕症。影像学检查可提示肾上腺增生。"},"tr":{"name":"Kortizon redüktaz eksikliğine bağlı hiperandrojeni","synonyms":["11-beta-hidroksisteroid dehidrojenaz eksikliği tip 1"]}},"xrefs":[{"source":"OMIM","code":"604931","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614662","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E25.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A71.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1515798114"},{"source":"MONDO","code":"0000193","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4329210","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9882","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":181412,"name":"Adrenogenital syndrome","classifications":[156,193]},{"orpha":180208,"name":"Anomaly of puberty or/and menstrual cycle","classifications":[205]},{"orpha":202940,"name":"Anomaly of puberty or/and menstrual cycle of genetic origin","classifications":[156]}],"children":[],"genes":[{"symbol":"H6PD","name":"hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"18628520[PMID]","hgnc":"4795","ensembl":"ENSG00000049239","omim":"138090","loci":["1p36.22"]},{"symbol":"HSD11B1","name":"hydroxysteroid 11-beta dehydrogenase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21325058[PMID]","hgnc":"5208","ensembl":"ENSG00000117594","omim":"600713","loci":["1q32.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-11-20","source":"30223866[PMID]_36578966[PMID]","terms":[{"hpo":"HP:0031186","label":"Abnormal circulating deoxycorticosterone level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008258","label":"Congenital adrenal hyperplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025436","label":"Elevated serum 11-deoxycortisol","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030348","label":"Increased circulating androgen concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000858","label":"Irregular menstruation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003351","label":"Decreased circulating renin concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002900","label":"Hypokalemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012412","label":"Premature adrenarche","frequency":"Occasional (29-5%)","criteria":null}]}}