{"orpha":752,"name":"46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["17-beta-hydroxysteroid dehydrogenase 3 deficiency","17-ketoreductase deficiency","17-ketosteroidreductase deficiency","46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency"],"definition":"A rare difference of sex development characterized by 17-beta hydroxysteroid dehydrogenase 3 deficiency that affects individuals with a 46,XY karyotype leading to underandrogenization of the genitalia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-752/","orphanet_url":"https://www.orpha.net/en/disease/detail/752","names":{"fr":{"name":"Différence du développement sexuel 46,XY par déficit en 17-bêta-hydroxystéroïde déshydrogénase 3","synonyms":["Anomalie du développement sexuel 46,XY par déficit en 17-bêta-hydroxystéroïde déshydrogénase 3","Déficit en 17-bêta-hydroxystéroïde déshydrogénase type 3","Déficit en 17-cétoréductase","Déficit en 17-cétostéroïde réductase"],"definition":"Différence du développement sexuel rare caractérisée par une déficit en 17-bêta-hydroxystéroïde déshydrogénase 3 affectant les individus avec un caryotype 46,XY et conduisant à une masculinisation insuffisante des organes génitaux chez le garçon."},"de":{"name":"Störung der Geschlechtsentwicklung 46,XY, durch 17-beta-Hydroxysteroid-Dehydrogenase 3-Mangel","synonyms":["17-Keto-Reduktase-Mangel","17-Ketosteroid-Reduktase-Mangel","17-beta-Hydroxysteroid-Dehydrogenase 3-Mangel","Pseudohermaphroditismus, männlicher, durch 17-beta-Hydroxysteroid-Dehydrogenase 3-Mangel"],"definition":"Eine seltene Störung der Geschlechtsentwicklung, die durch einen Mangel an 17beta-Hydroxysteroid-Dehydrogenase 3 gekennzeichnet ist und bei Personen mit einem 46,XY-Karyotyp auftritt. Die Störung resultiert in einer verminderte Androgenisierung der Genitalien."},"es":{"name":"Desarrollo sexual diferente 46,XY por deficiencia de 17-beta-hidroxiesteroide deshidrogenasa","synonyms":["DSD 46,XY por deficiencia de 17-beta-hidroxiesteroide deshidrogenasa","Trastorno del desarrollo sexual 46,XY por deficiencia de 17-beta-hidroxiesteroide deshidrogenasa"],"definition":"Es una forma poco frecuente de desarrollo sexual diferente caracterizada por una deficiencia de la isoenzima 3 de la 17-beta-hidroxiesteroide deshidrogenasa que afecta a individuos con un cariotipo 46,XY y que conduce a una androgenización deficiente de los genitales."},"it":{"name":"Disturbi dello sviluppo sessuale 46,XY da deficit di 17-beta-idrossisteroido deidrogenasi, tipo 3","synonyms":["Deficit di 17-beta-idrossisteroido deidrogenasi, tipo 3","Deficit di 17-cheto reduttasi","Deficit di 17-cheto-steroido reduttasi","Pseudoermafroditismo maschile da deficit di 17 beta-idrossisteroido deidrogenasi, tipo 3"]},"nl":{"name":"46,XY-geslachtsontwikkelingsstoornis door deficiëntie van 17-bèta-hydroxysteroïde-dehydrogenase 3","synonyms":["Deficiëntie van 17-bèta-hydroxysteroïde-dehydrogenase 3","Deficiëntie van 17-ketoreductase","Deficiëntie van 17-ketosteroïdreductase"],"definition":"Een zeldzame geslachtsontwikkelingsstoornis, gekenmerkt door deficiëntie van 17-bèta-hydroxysteroïddehydrogenase 3 die individuen met karyotype 46,XY treft en leidt tot ondermaatse androgenisatie van geslachtsorganen."},"pt":{"name":"Doença do desenvolvimento sexual 46,XY por deficiência de 17-beta-hidroxiesteróide desidrogenase","synonyms":["Pseudo-hermafroditismo masculino por deficiência de 17-beta-hidroxiesteróide desidrogenase"],"definition":"Doença rara do desenvolvimento sexual caracterizada por deficiência da 17-beta-hidroxiesteróide desidrogenase 3 que afeta indivíduos com cariótipo 46,XY, levando à subandrogenização dos genitais."},"pl":{"name":"Zaburzenie rozwoju płci z kariotypem 46,XY spowodowane niedoborem dehydrogenazy 17-beta-hydroksysteroidowej typu 3","synonyms":["Niedobór 17-ketoreduktazy","Niedobór 17-ketosteroidoreduktazy","Niedobór dehydrogenazy 17-beta-hydroksysteroidowej typu 3","Pseudohermafrodytyzm męski spowodowany niedoborem dehydrogenazy 17-beta-hydroksysteroidowej typu 3"]},"cs":{"name":"46,XY porucha pohlavního vývoje způsobená deficitem 17-beta-hydroxysteroid dehydrogenázy 3","synonyms":["Deficit 17-beta-hydroxysteroid dehydrogenázy typu 3","Deficit 17-ketoreduktázy","Deficit 17-ketosteroidreduktázy","Mužský pseudohermafroditismus způsobený deficitem 17-beta-hydroxysteroid dehydrogenázy 3"]},"uk":{"name":"46,XY порушення статевої диференціації, зумовлене дефіцитом 17-бета-гідроксистероїддегідрогенази 3","synonyms":["Дефіцит 17-бета-гідроксистероїдної дегідрогенази 3","Дефіцит 17-кеторедуктази","Дефіцит 17-кетостероїдредуктази","46,XY порушення статевої диференціації внаслідок дефіциту 17-бета-гідроксистероїддегідрогенази 3"],"definition":"A rare difference of sex development characterized by 17-beta hydroxysteroid dehydrogenase 3 deficiency that affects individuals with a 46,XY karyotype leading to underandrogenization of the genitalia."},"zh":{"name":"17-β-羟基类固醇脱氢酶3缺乏所致男性假两性畸形","synonyms":["17-β-羟类固醇脱氢酶3缺乏症"]},"tr":{"name":"17-beta-hidroksisteroid dehidrojenaz 3 eksikliğine bağlı 46,XY cinsiyet gelişim bozukluğu","synonyms":["17-ketoredüktaz eksikliği","17-ketosteroidredüktaz eksikliği","17-beta-hidroksisteroid dehidrojenaz 3 eksikliği"]}},"xrefs":[{"source":"OMIM","code":"264300","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":"887793448"},{"source":"MONDO","code":"0009916","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537805","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268296","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5659","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":90787,"name":"46,XY difference of sex development due to testicular steroidogenesis defect","classifications":[147,156,185,193,205,233]},{"orpha":400018,"name":"Rare female infertility due to adrenal disorder of genetic origin","classifications":[156]},{"orpha":399849,"name":"Rare female infertility due to an adrenal disorder","classifications":[201]},{"orpha":399685,"name":"Rare male infertility due to testicular endocrine disorder","classifications":[156,201]}],"children":[],"genes":[{"symbol":"HSD17B3","name":"hydroxysteroid 17-beta dehydrogenase 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":null,"hgnc":"5212","ensembl":"ENSG00000130948","omim":"605573","loci":["9q22.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.68,"area":"Netherlands","status":"Validated","source":"10599740[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.68,"area":"Netherlands","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-04-10","source":"36154887[PMID]_25960839[PMID]_36077423[PMID]","terms":[{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008665","label":"Clitoral hypertrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000789","label":"Infertility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000037","label":"Male pseudohermaphroditism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025380","label":"Increased circulating androstenedione concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100779","label":"Urogenital sinus anomaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000048","label":"Bifid scrotum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000771","label":"Gynecomastia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Occasional (29-5%)","criteria":null}]}}