{"orpha":754,"name":"Androgen insensitivity syndrome","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["AIS","Androgen resistance syndrome","Goldberg-Maxwell syndrome","Morris syndrome","Testicular feminization syndrome"],"definition":"A rare difference of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-754/","orphanet_url":"https://www.orpha.net/en/disease/detail/754","names":{"fr":{"name":"Syndrome d'insensibilité aux androgènes","synonyms":["AIS","Syndrome de Goldberg-Maxwell","Syndrome de Morris","Syndrome de féminisation testiculaire","Syndrome de résistance aux androgènes"],"definition":"Le syndrome d'insensibilité aux androgènes (IA) est un trouble du développement sexuel (DSD) caractérisé par la présence d'un appareil génital externe féminin, d'une ambigüité sexuelle, ou d'une virilisation de gravité variable chez un individu 46 XY avec une réponse absente ou partielle aux androgènes à un niveau approprié pour l'âge. Il se divise en deux groupes : l'insensibilité complète aux androgènes (ICA) et l'insensibilité partielle aux androgènes (IPA)."},"de":{"name":"Androgeninsensitivitätssyndrom","synonyms":["AIS","Androgen-Resistenz-Syndrom","Androgenresistenz-Syndrom","Goldberg-Maxwell-Syndrom","Morris-Syndrom","Syndrom der testikulären Feminisierung (TFM)"],"definition":"Das Androgen-Insensitivitäts-Syndrom (AIS) ist eine Störung der Geschlechtsentwicklung von Männern mit 46,XY-Karyotyp. Charakteristisch sind äußere weibliche Genitalien, intermediäres Genitale oder unterschiedliche Defekte der Virilisierung. Die Individuen sprechen nicht oder nur teilweise auf alterstypische Androgenspiegel an. Zwei klinische Untergruppen des AIS werden unterschieden, das vollständige AIS (CAIS) und das partielle AIS (PAIS)."},"es":{"name":"Síndrome de insensibilidad a los andrógenos","synonyms":["AIS","Síndrome de Goldberg-Maxwell","Síndrome de Morris","Síndrome de feminización testicular","Síndrome de resistencia a los andrógenos"],"definition":"Es un desarrollo sexual diferente (DSD) poco frecuente caracterizado por la presencia de genitales externos femeninos, genitales ambiguos o defectos variables de la virilización en un individuo 46,XY con una capacidad de respuesta ausente o parcial a los niveles de andrógenos propios de su edad. Se compone de dos subgrupos clínicos: SIA completo (SIAC) y SIA parcial (SIAP)."},"it":{"name":"Sindrome da insensibilità agli androgeni","synonyms":["AIS","Sindrome da femminilizzazione testicolare","Sindrome da resistenza agli androgeni","Sindrome di Goldberg-Maxwell","Sindrome di Morris"]},"nl":{"name":"Androgeeninsensitiveitssyndroom","synonyms":["AIS","AOS","Androgeenongevoeligheidssyndroom","Androgeenresistentiesyndroom","Syndroom van Goldberg-Maxwell","Syndroom van Morris","Testiculaire feminisatie-syndroom"],"definition":"Een zeldzame variatie in geslachtsontwikkeling (DSD), gekenmerkt door de aanwezigheid van vrouwelijke uitwendige geslachtsorganen, ambigue geslachtsorganen of variabele defecten van virilisatie bij een 46,XY-individu met afwezige of partiële gevoeligheid voor leeftijdsgebonden androgeengehaltes. Het omvat twee klinische subgroepen: complete AIS (CAIS) en partiële AIS (PAIS)."},"pt":{"name":"Síndrome de insensibilidade aos androgénios","synonyms":["Pseudo-hermafroditismo masculino por insensibilidade aos androgénios","Síndrome Goldberg-Maxwell","Síndrome Morris","Síndrome de feminização testicular","Síndrome de resistência aos androgénios"],"definition":"Diferença no desenvolvimento sexual (DSD) rara caracterizada pela presença de genitália externa feminina, genitália ambígua ou defeitos variáveis &#8203;&#8203;na virilização num indivíduo 46,XY com resposta ausente ou parcial aos níveis de androgénios adequados à idade. É composto por dois subgrupos clínicos: AIS completo (CAIS) e AIS parcial (PAIS)."},"pl":{"name":"Zespół niewrażliwości na androgeny","synonyms":["AIS","Zespół feminizujących jąder","Zespół Goldberga i Maxwella","Zespół Morrisa","Zespół oporności na androgeny"],"definition":"Rzadkie zaburzenie różnicowania płci, które charakteryzuje się obecnością żeńskich narządów płciowych zewnętrznych, obojnaczych narządów płciowych lub zmiennych zaburzeń wirylizacji u osobnika 46,XY z brakiem lub częściową reakcją na odpowiednie dla wieku poziomy androgenów. Obejmuje dwie podgrupy kliniczne: zespół całkowitej niewrażliwości na androgeny i zespół częściowej niewrażliwości na androgeny."},"cs":{"name":"Syndrom androgenní insenzitivity","synonyms":["AIS","Syndrom androgenní rezistence","Syndrom Goldbergové-Maxwellové","Syndrom testikulární feminizace","Morrisův syndrom","Reifensteinův syndrom","Syndrom Goldberg-Maxwellové"]},"uk":{"name":"Синдром нечутливості до андрогенів","synonyms":["AIS","Синдром резистентності до андрогенів","Синдром Гольдберга-Максвелла","Синдром Морріса","Синдром фемінізації яєчок"],"definition":"A rare difference of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS)."},"zh":{"name":"雄激素不敏感综合征","synonyms":["睾丸女性化综合征"]},"tr":{"name":"Androjen duyarsızlığı sendromu","synonyms":["AIS","Morris sendromu","Goldberg-Maxwell sendromu","Androjen direnci sendromu","Testiküler feminizasyon sendromu"]}},"xrefs":[{"source":"ICD-10","code":"E34.5","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LD2A.4","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1688293388"},{"source":"MONDO","code":"0019154","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"19154","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D013734","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0039585","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5803","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10056292","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":325351,"name":"46,XY difference of sex development of endocrine origin","classifications":[147,185,193]},{"orpha":325632,"name":"46,XY difference of sex development of gynecological interest","classifications":[156,205]},{"orpha":325713,"name":"Genetic 46,XY difference of sex development of endocrine origin","classifications":[156]},{"orpha":399685,"name":"Rare male infertility due to testicular endocrine disorder","classifications":[156,201]}],"children":[{"orpha":99429,"name":"Complete androgen insensitivity syndrome","type":"Disease"},{"orpha":90797,"name":"Partial androgen insensitivity syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.01,"area":"Netherlands","status":"Validated","source":"11549642[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.1,"area":"Denmark","status":"Validated","source":"27603905[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.04,"area":"Denmark","status":"Validated","source":"27603905[PMID]"}],"phenotypes":null}