{"orpha":393,"name":"46,XX testicular difference of sex development","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["46,XX testicular DSD","46,XX testicular disorder of sex development","De la Chapelle syndrome","XX, male syndrome"],"definition":"A rare difference of sex development (DSD) associated with a 46, XX karyotype and characterized by male external genitalia, ranging from normal to atypical with associated testosterone deficiency.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-393/","orphanet_url":"https://www.orpha.net/en/disease/detail/393","names":{"fr":{"name":"Différence testiculaire du développement sexuel 46,XX","synonyms":["Syndrome de De la Chapelle","Syndrome du mâle XX","Anomalie testiculaire du développement sexuel 46,XX"],"definition":"Anomalie rare du développement sexuel (DSD) associée à un caryotype 46, XX, caractérisée par un appareil génital externe mâle, oscillant entre normal et atypique, associée à un déficit en testostérone."},"de":{"name":"46,XX testikuläre Störung der Geschlechtsentwicklung","synonyms":["46,XX testikuläres DSD","De la Chapelle-Syndrom"],"definition":"Eine seltene Variante der Geschlechtsentwicklung (DSD), die mit einem 46, XX-Karyotyp einhergeht und gekennzeichnet ist durch normale bis atypische männliche äußere Genitalien und assoziierten Testosteronmangel."},"es":{"name":"Desarrollo sexual diferente testicular 46,XX","synonyms":["DSD testicular 46,XX","Síndrome de De la Chapelle","Síndrome del varón XX","Trastorno del desarrollo sexual testicular 46,XX"],"definition":"Es una forma poco frecuente de desarrollo sexual diferente (DSD) asociada con un cariotipo 46, XX y caracterizada por genitales externos masculinos de aparicncia normal o atípica con una deficiencia de testosterona asociada."},"it":{"name":"Malattia testicolare dello sviluppo sessuale 46,XX","synonyms":["Sindrome di De la Chapelle"],"definition":"Si tratta di un disturbo raro dello sviluppo sessuale (DSD) associato ad un cariotipo 46,XX. È caratterizzato da genitali esterni maschili, normali o atipici, associati a un deficit di testosterone."},"nl":{"name":"46,XX testiculaire geslachtsontwikkelingsstoornis","synonyms":["46,XX testiculaire DSD","Syndroom van De la Chapelle","XX, mannelijk syndroom"],"definition":"Een zeldzame variatie in geslachtsontwikkeling (DSD), geassocieerd met een 46,XX-karyotype en gekenmerkt door mannelijke uitwendige geslachtsorganen, gaande van normaal tot atypisch met geassocieerd tekort aan testosteron."},"pt":{"name":"Doença do desenvolvimento sexual 46,XX testicular","synonyms":["Síndrome De la Chapelle"],"definition":"Diferença do desenvolvimento sexual (DSD) rara associada a um cariótipo 46,XX e caracterizada por genitais externos masculinos, variando de normais a atípicos, associada a deficiência de testosterona."},"pl":{"name":"Jądrowe zaburzenie rozwoju płci z kariotypem 46,XX","synonyms":["XX, mężczyzna","Zespół De la Chapelle"],"definition":"Rzadkie zaburzenie różnicowania płci związane z kariotypem 46,XX, charakteryzujące się męskimi zewnętrznymi narządami płciowymi, od prawidłowych do nietypowych, z powiązanym niedoborem testosteronu."},"cs":{"name":"46,XX testikulární porucha pohlavního zrání","synonyms":["46,XX testikulární DSD","XX, mužský syndrom","De la Chapellův syndrom"]},"uk":{"name":"46,XX тестікулярне порушення статевої диференціації","synonyms":["46,XX порушення статевого розвитку яєчок","46,XX DSD яєчка","Синдром де ла Шапель","XX, чоловічий синдром"],"definition":"A rare difference of sex development (DSD) associated with a 46, XX karyotype and characterized by male external genitalia, ranging from normal to atypical with associated testosterone deficiency."},"zh":{"name":"46, XX性发育相关睾丸疾病","synonyms":["De la Chapelle综合征"]},"tr":{"name":"46,XX testiküler cinsiyet gelişim bozukluğu","synonyms":["XX, erkek sendromu","46, XX testiküler DSD","De la Chapelle sendromu"]}},"xrefs":[{"source":"OMIM","code":"278850","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"300833","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"400045","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q99.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2A.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1357942532"},{"source":"MONDO","code":"0100249","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D058531","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2936419","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"399","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10087158","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":325055,"name":"46,XX disorder of gonadal development","classifications":[147,156,185,193]},{"orpha":98313,"name":"Male infertility due to gonadal dysgenesis","classifications":[156,201]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]}],"children":[],"genes":[{"symbol":"SOX3","name":"SRY-box transcription factor 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"21183788[PMID]_22678921[PMID]","hgnc":"11199","ensembl":"ENSG00000134595","omim":"313430","loci":["Xq27.1"]},{"symbol":"NR5A1","name":"nuclear receptor subfamily 5 group A member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"27490115[PMID]","hgnc":"7983","ensembl":"ENSG00000136931","omim":"184757","loci":["9q33.3"]},{"symbol":"SOX9","name":"SRY-box transcription factor 9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24140641[PMID]","hgnc":"11204","ensembl":"ENSG00000125398","omim":"608160","loci":["17q24.3"]},{"symbol":"SRY","name":"sex determining region Y","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301589[PMID]","hgnc":"11311","ensembl":"ENSG00000184895","omim":"480000","loci":["Yp11.2"]},{"symbol":"NR0B1","name":"nuclear receptor subfamily 0 group B member 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"28483799[PMID]","hgnc":"7960","ensembl":"ENSG00000169297","omim":"300473","loci":["Xp21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.5,"area":"Worldwide","status":"Validated","source":"16200839[PMID]_6945286[PMID]_[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000026","label":"Male hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000147","label":"Polycystic ovaries","frequency":"Very frequent (99-80%)","criteria":null}]}}