{"orpha":753,"name":"46,XY difference of sex development due to 5-alpha-reductase 2 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["46,XY DSD due to 5-alpha-reductase 2 deficiency","46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency","Pseudovaginal perineoscrotal hypospadias","Steroid 5-alpha-reductase 2 deficiency"],"definition":"A rare difference of sex development (DSD) due to a defect in metabolizing testosterone to dihydrotestosterone and characterized by incomplete intrauterine masculinization which ranges from a female genitalia with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias and micropenis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-753/","orphanet_url":"https://www.orpha.net/en/disease/detail/753","names":{"fr":{"name":"Différence du développement sexuel 46,XY par déficit en 5-alpha-réductase de type 2","synonyms":["ADS 46,XY par déficit en 5-alpha-réductase de type 2","Anomalie du développement sexuel 46,XY par déficit en 5-alpha-réductase de type 2","Déficit en stéroïde-5-alpha réductase de type 2","Hypospadias périnéo-scrotale pseudovaginale"],"definition":"Différence du développement sexuel 46,XY associée à un défaut du métabolisme de testostérone en dihydrotestostérone, caractérisée par une masculinisation intra-utérine incomplète qui va d'un appareil génital féminin avec une poche vaginale aveugle à un phénotype entièrement masculin avec hypospadias postérieur pseudovaginal et micropénis."},"de":{"name":"Störung der Geschlechtsentwicklung 46,XY, durch 5-Alpha-Reduktase 2-Mangel","synonyms":["46,XY DSD durch 5-Alpha-Reduktase 2-Mangel","Pseudovaginale perineoskrotale Hypospadie","Steroid-5-Alpha-Reduktase 2-Mangel"],"definition":"Eine seltene Variante der Geschlechtsentwicklung (DSD), die auf einem Defekt in der Metabolisierung von Testosteron zu Dihydrotestosteron beruht und durch eine unvollständige intrauterine Vermännlichung gekennzeichnet ist, die von einem weiblichen Genital mit einer blinden Vaginaltasche bis zu einem vollständig männlichen Phänotyp mit pseudovaginaler hinterer Hypospadie und Mikropenis reicht."},"es":{"name":"Desarrollo sexual diferente 46,XY por deficiencia de 5-alfa-reductasa 2","synonyms":["DSD 46,XY por deficiencia de 5-alfa-reductasa 2","Deficiencia de esteroide 5-alfa-reductasa","Hipospadias perineoescrotal pseudovaginal","Trastorno del desarrollo sexual 46,XY por deficiencia de 5-alfa-reductasa 2"],"definition":"Es un desarrollo sexual diferente (DSD) poco frecuente debido a un defecto de metabolización de la testosterona a dihidrotestosterona y caracterizado por masculinización intrauterina incompleta que varía desde genitales femeninos con una bolsa vaginal ciega hasta un fenotipo completamente masculino con hipospadias pseudovaginal posterior y micropene."},"it":{"name":"Alterato sviluppo sessuale 46,XY da deficit di 5-alfa-reduttasi 2","synonyms":["DSD 46,XY da deficit di 5-alfa-reduttasi 2","Deficit di steroido-5-alfa-reduttasi","Ipospadia pseudo-vaginale perineo-scrotale"],"definition":"Si tratta di una malattia rara dello sviluppo sessuale (DSD), secondaria ad un difetto della degradazione del testosterone in diidrotestosterone, caratterizzata dalla incompleta e variabile mascolinizzazione prenatale, che comprende i genitali femminili con sacca vaginale cieca, fino ad un fenotipo completamente maschile con ipospadia pseudovaginale posteriore e micropene."},"nl":{"name":"46,XY-geslachtsontwikkelingsstoornis door deficiëntie van 5-alfa-reductase 2","synonyms":["46,XY-DSD door 5-alfa-reductase 2-deficiëntie","Deficiëntie van steroïde 5-alfa-reductase","Pseudovaginale perineoscrotale hypospadie"],"definition":"Een zeldzame variatie in geslachtsontwikkeling (DSD) door een defect in het metabolisme van testosteron tot dihydrotestosteron, gekenmerkt door onvolledige intra-uteriene virilisatie gaande van vrouwelijke geslachtsorganen met blind eindigende vagina tot een volledig mannelijk fenotype met pseudovaginale posterieure hypospadie en micropenis."},"pt":{"name":"Doença do desenvolvimento sexual 46,XY por deficiência de 5-alfa-redutase 2","synonyms":["DDS 46,XY por deficiência de 5-alfa-redutase 2","Hipospadias perineo-escrotal pseudo-vaginal"],"definition":"Diferença no desenvolvimento sexual (DSD) rara devido a um defeito no metabolismo da testosterona em di-hidrotestosterona e caracterizada por masculinização intrauterina incompleta que varia de uma genitália feminina com uma bolsa vaginal cega a um fenótipo totalmente masculino com hipospádia posterior pseudovaginal e micropénis."},"pl":{"name":"Zaburzenie różnicowania płci spowodowane niedoborem 5-alfa-reduktazy 2","synonyms":["Niedobór 5-alfa-reduktazy steroidowej","Pseudohermafrodytyzm męski spowodowany niedoborem 5-alfa-reduktazy 2","ZRP 46,XY spowodowane niedoborem 5-alfa-reduktazy 2"],"definition":"Rzadkie zaburzenie różnicowania płci spowodowane nieprawidłowym metabolizmem testosteronu do dihydrotestosteronu. Charakteryzuje się niepełną maskulinizacją wewnątrzmaciczną, z obecnością żeńskich narządów płciowych zewnętrznych ze ślepo zakończoną pochwą lub całkowicie męskim fenotypem z pseudopochwowym spodziectwem tylnym i mikropenisem."},"cs":{"name":"46,XY porucha pohlavního vývoje způsobená deficitem 5-alfa-reduktázy 2","synonyms":["46, XY DSD, deficit 5-alfa reduktázy","Pseudovaginální perineoskrotální hypospadie","Deficit steroid 5-alfa-reduktázy","Mužský pseudohermafroditismus způsobený deficitem 5-alfa-reduktázy 2"]},"uk":{"name":"46,XY порушення статевої диференціації, зумовлене дефіцитом 5-альфа-редуктази 2","synonyms":["46,XY порушення статевого розвитку внаслідок дефіциту 5-альфа-редуктази 2","46,XY ПСР внаслідок дефіциту 5-альфа-редуктази 2","Псевдовагінальні перинеосакральні гіпоспадії","Дефіцит стероїдної 5-альфа-редуктази 2"],"definition":"A rare difference of sex development (DSD) due to a defect in metabolizing testosterone to dihydrotestosterone and characterized by incomplete intrauterine masculinization which ranges from a female genitalia with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias and micropenis."},"zh":{"name":"5-α还原酶2缺乏所致男性假两性畸形","synonyms":["5-α-还原酶缺乏所致46，XY男性假两性畸形"]},"tr":{"name":"5-alfa-redüktaz 2 eksikliğine bağlı 46,XY cinsiyet gelişim bozukluğu","synonyms":["Steroid 5-alfa redüktaz eksikliği","Psödovajinal perineoskrotal hipospadiyas","5-alfa-redüktaz 2 eksikliğine bağlı 46,XY DSD"]}},"xrefs":[{"source":"OMIM","code":"264600","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E29.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2A.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1028755501"},{"source":"MONDO","code":"0009923","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535830","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268297","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5680","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10000029","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98086,"name":"46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue","classifications":[147,156,185,193,205,233]},{"orpha":399685,"name":"Rare male infertility due to testicular endocrine disorder","classifications":[156,201]}],"children":[],"genes":[{"symbol":"SRD5A2","name":"steroid 5 alpha-reductase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"8723114[PMID]_9497950[PMID]","hgnc":"11285","ensembl":"ENSG00000277893","omim":"607306","loci":["2p23.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000818","label":"Abnormality of the endocrine system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000033","label":"Ambiguous genitalia, male","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000048","label":"Bifid scrotum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000144","label":"Decreased fertility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000051","label":"Perineal hypospadias","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000046","label":"Small scrotum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100779","label":"Urogenital sinus anomaly","frequency":"Very frequent (99-80%)","criteria":null}]}}