{"orpha":325345,"name":"46,XY ovotesticular difference of sex development","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["46,XY ovotesticular DSD","46,XY ovotesticular disorder of sex development"],"definition":"46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumours are frequently associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-325345/","orphanet_url":"https://www.orpha.net/en/disease/detail/325345","names":{"fr":{"name":"Différence ovotesticulaire du développement sexuel 46,XY","synonyms":["ADS ovotesticulaire 46,XY","Anomalies ovotesticulaires du développement sexuel 46,XY","DSD 46,XY ovotesticulaire"],"definition":"Les anomalies ovotesticulaires du développement sexuel 46,XY représentent un trouble génétique rare du développement sexuel. Elles se caractérisent soit par la coexistence de gonades mâles et femelles, ou, plus fréquemment, par la présence de l'une ou des deux gonades, contenant un mélange de tissu testiculaire et ovarien (ovotesticules) chez un individu possédant un caryotype masculin normal, de type 46,XY. Les organes génitaux externes sont habituellement ambigus, mais ils peuvent varier d'organes masculins normaux à des organes féminins normaux. Si un utérus et/ou des trompes de Fallope sont présents, ils sont généralement hypoplasiques. Une cryptorchidie, un hypospadias, une infertilité et un risque accru de développer des tumeurs gonadiques sont fréquemment associés."},"de":{"name":"Störung der Geschlechtsentwicklung 46,XY, ovotestikuläre","synonyms":["46,XY-DSD, ovotestikuläre"],"definition":"Eine seltene genetische Störung der Geschlechtsentwicklung, die entweder durch die Koexistenz von sowohl männlichen als auch weiblichen reproduktiven Keimdrüsen oder, häufiger, durch das Vorhandensein einer oder beider Keimdrüsen mit einer Mischung aus Hoden- und Eierstockgewebe (Ovotestes) bei einem Individuum mit einem normalen männlichen 46,XY-Karyotyp gekennzeichnet ist. Die äußeren Genitalien sind in der Regel uneindeutig, können aber von normal männlich bis normal weiblich reichen. Wenn Uterus und/oder Eileiter vorhanden sind, sind sie im Allgemeinen hypoplastisch. Kryptorchismus, Hypospadie, Unfruchtbarkeit und ein erhöhtes Risiko für gonadale Tumore sind häufig assoziiert."},"es":{"name":"Desarrollo sexual diferente 46,XY ovotesticular","synonyms":["DSD ovotesticular 46,XY","Trastorno ovotesticular del desarrollo sexual 46,XY"],"definition":"El trastorno ovotesticular del desarrollo sexual 46 XY es un trastorno genético poco frecuente del desarrollo sexual caracterizado por la coexistencia de gónadas reproductivas masculinas y femeninas o, más frecuentemente, por la presencia de una o ambas gónadas que contienen una mezcla de tejido ovárico y testicular (ovotestes) en un individuo con un cariotipo 46 XY masculino normal. Los genitales externos suelen ser ambiguos, pero pueden variar desde masculinos a femeninos y, si hay útero y / o trompas de Falopio, generalmente éstos son hipoplásicos. Se asocian con frecuencia criptorquidia, hipospadias, infertilidad y mayor riesgo de tumores gonadales."},"it":{"name":"Malattia ovotesticolare 46,XY dello sviluppo sessuale","synonyms":["DSD ovotesticolare 46,XY"],"definition":"La malattia ovotesticolare 46,XY è una condizione genetica rara dello sviluppo sessuale. È caratterizzata dalla coesistenza di tessuti gonadici maschili e femminili, oppure, più spesso, dalla presenza in una o in entrambe le gonadi di strutture contenenti sia tessuto testicolare che ovarico (ovotesticoli) in un soggetto a cariotipo normale maschile 46,XY. In genere, i genitali esterni sono ambigui, ma possono anche essere maschili o femminili normali; quando sono presenti l'utero e/o le tube di Falloppio, di solito sono ipoplasici. Spesso si associa a criptorchidismo, ipospadia, infertilità e aumento del rischio di tumori gonadici."},"nl":{"name":"46,XY ovotesticulaire geslachtsontwikkelingsstoornis","synonyms":["46,XY ovotesticulaire DSD"],"definition":"46,XY ovotesticulaire geslachtsontwikkelingsstoornis is een zeldzame, genetische geslachtsontwikkelingsstoornis die gekarakteriseerd wordt door ofwel het samen voorkomen van zowel mannelijke als vrouwelijke gonaden, ofwel, wat meer voorkomt, de aanwezigheid van één of beide gonaden met een mengeling van zowel testiculair als ovarieel weefsel (ovotestes) in een individu met een normaal mannelijk 46, XY karyotype. Uitwendige geslachtsorganen zijn meestal ambigu, maar kunnen gaan van normaal mannelijk tot normaal vrouwelijk, en indien een uterus en/of eileiders aanwezig zijn, zijn deze doorgaans hypoplastisch. Cryptorchidie, hypospadieën, onvruchtbaarheid en een verhoogd risico op gonadale tumoren zijn frequent geassocieerd."},"pt":{"name":"Doença do desenvolvimento sexual 46,XY ovotesticular"},"pl":{"name":"Jajnikowo-jądrowe zaburzenie różnicowania płci z kariotypem 46,XY","synonyms":["Jajnikowo-jądrowe ZRP z kariotypem 46,XY"]},"cs":{"name":"46,XY ovotestikulární porucha pohlavního vývoje","synonyms":["46,XY ovotestikulární DSD"]},"uk":{"name":"46,XY овотестикулярне порушення статевої диференціації","synonyms":["46,XY овотестикулярний розлад статевого розвитку","46,XY оваріально-тестикулярний ПСР"],"definition":"46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumours are frequently associated."},"zh":{"name":"46，XY性发育障碍卵巢睾丸病","synonyms":["46，XY卵巢睾丸病DSD"],"definition":"46，XY卵巢性发育障碍是一种罕见的性发育遗传性疾病，其特征是男性和女性生殖性腺共存，或者更常见的是，男性正常46，XY核型个体存在一个或两个性腺含有睾丸和卵巢组织（卵母细胞）的混合物。外生殖器通常性别模糊的，但可以表现为正常男性或女性，如果子宫和/或输卵管存在，它们通常发育不全。隐睾、尿道下裂、不孕和性腺肿瘤的风险增加往往与之相关。"},"tr":{"name":"46, XY ovotestiküler cinsiyet gelişim bozukluğu","synonyms":["Ovotestiküler DSD 46, XY"]}},"xrefs":[{"source":"ICD-10","code":"Q56.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2A.0","qualifier":"NTBT","icd_relation":"specific","validated":true},{"source":"MONDO","code":"0017968","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2697358","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":325118,"name":"46,XY disorder of gonadal development","classifications":[147,156,185,193]},{"orpha":98074,"name":"Gonadal dysgenesis of gynecological interest","classifications":[156,205]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.3,"area":"Worldwide","status":"Validated","source":"29285340[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2015-11-16","source":"24758178[PMID]_23065160[PMID]_16624884[PMID]_22573722[PMID]","terms":[{"hpo":"HP:0012244","label":"Abnormal sex determination","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001197","label":"Abnormality of prenatal development or birth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000056","label":"Abnormality of the clitoris","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010460","label":"Abnormality of the female genitalia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000058","label":"Abnormality of the labia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010461","label":"Abnormality of the male genitalia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000048","label":"Bifid scrotum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000063","label":"Fused labia minora","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012861","label":"Ovotestis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000051","label":"Perineal hypospadias","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010459","label":"True hermaphroditism","frequency":"Very frequent (99-80%)","criteria":"Pathognomonic sign"},{"hpo":"HP:0100779","label":"Urogenital sinus anomaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000041","label":"Chordee","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000150","label":"Gonadoblastoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030258","label":"Hyperpigmented genitalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000039","label":"Epispadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null}]}}