{"orpha":99429,"name":"Complete androgen insensitivity syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CAIS","Complete androgen resistance syndrome"],"definition":"Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99429/","orphanet_url":"https://www.orpha.net/en/disease/detail/99429","names":{"fr":{"name":"Syndrome d'insensibilité complète aux androgènes","synonyms":["CAIS","SICA"],"definition":"Le syndrome d'insensibilité complète aux androgènes (SICA) est une anomalie du développement sexuel caractérisée par la présence d'organes génitaux externes féminins chez un individu de caryotype 46,XY dont les testicules sont normalement développées mais en position abdominale et qui ne répond pas aux androgènes à des taux adaptés à l'âge."},"de":{"name":"Androgen-Insensitivität, komplette","definition":"Das Syndrom der kompletten Androgen-Insensitivität (CAIS) ist eine Form des Androgen-Insensitivitäts-Syndroms (AIS; s. dort). Es handelt sich um eine Störung der Geschlechtsentwicklung (DSD). Sie ist gekennzeichnet durch weibliches äußeres Genitale bei einem Individuum mit 46,XY-Karyotyp, durch normal entwickelte, aber nicht deszendierte Testes und durch fehlendes Ansprechen auf alterstypische Androgenspiegel."},"es":{"name":"Síndrome de insensibilidad completa a los andrógenos","synonyms":["CASI","SICA","Síndrome de resistencia completa a los andrógenos"],"definition":"El síndrome de insensibilidad completa a los andrógenos (SICA) es una forma de síndrome de insensibilidad a los andrógenos (SIA; ver término), un trastorno del desarrollo sexual (DSD), caracterizado por la presencia de genitales externos femeninos en un individuo 46,XY con desarrollo testicular normal pero con testículos no descendidos y falta de respuesta a los niveles de andrógenos apropiados para la edad."},"it":{"name":"Sindrome da insensibilità completa agli androgeni","synonyms":["CAIS","Sindrome da resistenza completa agli androgeni"]},"nl":{"name":"Complete androgeeninsensitiviteitssyndroom","synonyms":["CAIS","CAOS","Complete androgeenongevoeligheidssyndroom","Complete androgeenresistentiesyndroom"],"definition":"Complete androgeenongevoeligheidssyndroom (CAOS) is een vorm van androgeenongevoeligheidssyndroom (AOS), een geslachtsontwikkelingsstoornis (DSD), gekenmerkt door de aanwezigheid van vrouwelijke uitwendige geslachtsorganen bij een 46,XY-individu met normaal ontwikkelde maar niet-ingedaalde testes en ongevoeligheid voor leeftijdsgebonden androgeengehaltes."},"pt":{"name":"Insensibilidade aos androgénios completa","definition":"A síndrome de insensibilidade ao androgénio completa (CAIS) é uma forma de síndrome de insensibilidade ao androgénio (AIS; ver este termo), uma patologia do desenvolvimento sexual caracterizada pela presença de genitais externos femininos num indivíduo 46,XY com desenvolvimento testicular normal, mas testículos não- descidos e ausência de resposta a níveis de androgénios adequados à idade."},"pl":{"name":"Zespół całkowitej niewrażliwości na androgeny","synonyms":["CAIS","Zespół całkowitej oporności na androgeny"]},"cs":{"name":"Syndrom kompletní necitlivosti na androgeny","synonyms":["CAIS","Syndrom kompletní rezistence na androgeny"]},"uk":{"name":"Синдром повної нечутливості до андрогенів","synonyms":["CAIS","Синдром повної андрогенної резистентності"],"definition":"Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens."},"zh":{"name":"雄激素完全不敏感综合征","synonyms":["完全性雄激素抵抗综合征"],"definition":"完全性雄激素不敏感综合征(CAIS)是雄激素不敏感综合征(AIS，见该词条)的一种形式，属于性发育障碍(DSD)，其特点为为基因型为46，XY的个体中存在女性外生殖器表型，睾丸发育正常，但睾丸未下降，对年龄相应的雄激素水平无反应。"},"tr":{"name":"Tam androjen duyarsızlığı sendromu","synonyms":["CAIS","Tam androjen direnci sendromu"]}},"xrefs":[{"source":"OMIM","code":"300068","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E34.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2A.4","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1497511971"},{"source":"MONDO","code":"0021023","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0936016","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10597","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":754,"name":"Androgen insensitivity syndrome","classifications":[147,156,185,193,201,205]}],"children":[],"genes":[{"symbol":"AR","name":"androgen receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301602[PMID]","hgnc":"644","ensembl":"ENSG00000169083","omim":"313700","loci":["Xq12"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["All ages"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":3.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.83,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET_22698698[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-12-03","source":"39391975[PMID]_30970592[PMID]_29949163[PMID]_29768628[PMID]_20301602[PMID]","terms":[{"hpo":"HP:0000008","label":"Abnormal morphology of female internal genitalia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012888","label":"Abnormality of the uterine cervix","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000151","label":"Aplasia of the uterus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008655","label":"Aplasia/Hypoplasia of the fallopian tube","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008689","label":"Bilateral cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040314","label":"Blind vagina","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011969","label":"Elevated circulating luteinizing hormone level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008730","label":"Female external genitalia in individual with 46,XY karyotype","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025134","label":"Increased serum estradiol","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030088","label":"Increased serum testosterone level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003251","label":"Male infertility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000786","label":"Primary amenorrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000098","label":"Tall stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002221","label":"Absent axillary hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002555","label":"Absent pubic hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031102","label":"Increased antimullerian hormone level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002215","label":"Sparse axillary hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002225","label":"Sparse pubic hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010788","label":"Testicular neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030346","label":"Abnormal circulating follicle-stimulating hormone level","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001061","label":"Acne","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100728","label":"Germ cell neoplasia","frequency":"Very rare (<4-1%)","criteria":null}]}}