{"orpha":90797,"name":"Partial androgen insensitivity syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PAIS","Partial androgen resistance syndrome"],"definition":"A difference of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90797/","orphanet_url":"https://www.orpha.net/en/disease/detail/90797","names":{"fr":{"name":"Syndrome d'insensibilité partielle aux androgènes","synonyms":["PAIS","SIPA"],"definition":"Le syndrome d'insensibilité partielle aux androgènes (SIPA) est un trouble du développement sexuel (TDS), distinct du syndrome d'insensibilité complète aux androgènes (SICA). Il est caractérisé par la présence d'un développement génital anormal chez un individu de caryotype 46,XY, avec des testicules normalement développés et une réponse partielle aux androgènes à des taux normaux pour l'âge."},"de":{"name":"Androgen-Insensivitäts-Syndrom, partielles","synonyms":["Androgen-Resistenz-Syndrom, partielles","PAIS","Reifenstein-Syndrom","Störung der Geschlechtsentwicklung 46,XY bei partieller Androgen-Insensivität"],"definition":"Das Partielle Androgen-Insensitivitäts-Syndrom (PAIS) ist eine Störung der Geschlechtsentwicklung und wird vom kompletten AIS (CAIS) unterschieden. Charakteristisch ist eine abnorme Entwicklung der Genitalien von Männern mit 46,XY-Karyotyp und normaler Entwicklung der Testes, bei nur teilweiser Reaktion auf alterstypische Androgenspiegel."},"es":{"name":"Síndrome de insensibilidad parcial a los andrógenos","synonyms":["PAIS","Síndrome de resistencia parcial a los andrógenos","Trastorno del desarrollo sexual 46,XY por insensibilidad parcial a andrógenos"],"definition":"Es un desarrollo sexual diferente (DSD) poco frecuente distinto del síndrome de insensibilidad completa a los andrógenos (SIA completo), caracterizado por un desarrollo genital anómalo en un individuo 46,XY con un desarrollo normal de los testículos y sensibilidad parcial a los niveles de andrógenos apropiados para la edad."},"it":{"name":"Sindrome da insensibilità parziale agli androgeni","synonyms":["PAIS","Sindrome da resistenza parziale agli androgeni"]},"nl":{"name":"Partiële androgeeninsensitiviteitssyndroom","synonyms":["PAIS","PAOS","Partiële androgeenongevoeligheidssyndroom","Partiële androgeenresistentiesyndroom"],"definition":"Een variatie in geslachtsontwikkeling (DSD) verschillend van compleet androgeeninsensitiviteitssyndroom (CAIS), gekenmerkt door de aanwezigheid van abnormale genitale ontwikkeling bij een 46,XY-individu met normale ontwikkeling van testes en partiële gevoeligheid voor leeftijdsgebonden androgeengehaltes."},"pt":{"name":"Insensibilidade parcial aos androgénios","definition":"Diferença no desenvolvimento sexual (DSD) distinta da AIS completa (CAIS), caracterizada pela presença de um desenvolvimento genital anómalo num indivíduo 46,XY com desenvolvimento testicular normal e responsividade parcial aos níveis de androgénios adequados à idade."},"pl":{"name":"Zespół częściowej niewrażliwości na androgeny","synonyms":["PAIS","Zespół częściowej oporności na androgeny"],"definition":"Zaburzenie różnicowania płci, odmienne od zespołu całkowitej niewrażliwości na androgeny, które charakteryzuje się nieprawidłowym rozwojem narządów płciowych u osoby z chromosomem 46,XY, przy prawidłowym rozwoju jąder i częściowej reakcji na właściwy dla wieku poziom androgenów."},"cs":{"name":"Parciální necitlivost k androgenům","synonyms":["PAIS","Parciální androgenní rezistence"]},"uk":{"name":"Синдром часткової нечутливості до андрогенів","synonyms":["PAIS","Синдром часткової андрогенної резистентності"],"definition":"A difference of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens."},"zh":{"name":"部分性雄激素不敏感综合征","synonyms":["部分雄激素抵抗综合征"]},"tr":{"name":"Kısmi androjen duyarsızlığı sendromu","synonyms":["PAIS","Kısmi androjen direnci sendromu"]}},"xrefs":[{"source":"OMIM","code":"312300","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":"1302802480"},{"source":"MONDO","code":"0010720","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268301","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5692","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":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-06-15","source":"29949163[PMID]_31351520[PMID]_29768628[PMID]","terms":[{"hpo":"HP:0010463","label":"Aplasia of the ovary","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000151","label":"Aplasia of the uterus","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:0031102","label":"Increased antimullerian hormone level","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:0040307","label":"Male sexual dysfunction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025132","label":"Abnormal circulating estrogen level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008689","label":"Bilateral cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000771","label":"Gynecomastia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009888","label":"Abnormality of secondary sexual hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001620","label":"Abnormally high-pitched voice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000027","label":"Azoospermia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000048","label":"Bifid scrotum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040314","label":"Blind vagina","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008665","label":"Clitoral hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025486","label":"Fused labia majora","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100728","label":"Germ cell neoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025134","label":"Increased serum estradiol","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008189","label":"Insulin insensitivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000051","label":"Perineal hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000786","label":"Primary amenorrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100779","label":"Urogenital sinus anomaly","frequency":"Occasional (29-5%)","criteria":null}]}}