{"orpha":325448,"name":"Leydig cell hypoplasia due to LHB deficiency","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["46,XY DSD due to LHB deficiency","46,XY DSD due to luteinizing hormone subunit beta deficiency","46,XY disorder of sex development due to LHB deficiency","46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency","Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-325448/","orphanet_url":"https://www.orpha.net/en/disease/detail/325448","names":{"fr":{"name":"Hypoplasie des cellules de Leydig par déficit en LHB","synonyms":["ADS 46,XY par déficit en LHB","ADS 46,XY par déficit en hormone lutéinisante bêta","Anomalie du développement sexuel 46,XY par déficit en hormone lutéinisante bêta","DSD 46,XY par déficit en hormone lutéinisante bêta","Hypoplasie des cellules de Leydig par déficit en hormone lutéinisante bêta"]},"de":{"name":"Leydig-Zell-Hypoplasie durch LHB-Mangel","synonyms":["46,XY DSD durch Mangel der beta-Untereinheit des luteinisierenden Hormons","46,XY-DSD durch LHB-Mangel","Leydig-Zell-Hypoplasie durch Mangel der beta-Untereinheit des luteinisierenden Hormons","Störung der Geschlechtsentwicklung 46,XY, bei LHB-Mangel"]},"es":{"name":"Hipoplasia de células de Leydig por deficiencia de LHB","synonyms":["Hipoplasia de células de Leydig por deficiencia de la subunidad beta de la hormona luteinizante","TDS 46,XY por deficiencia de LHB","TDS 46,XY por deficiencia de la subunidad beta de la hormona luteinizante","Trastorno del desarrollo sexual 46,XY por deficiencia de LHB","Trastorno del desarrollo sexual 46,XY por deficiencia de la subunidad beta de la hormona luteinizante"]},"it":{"name":"Ipoplasia delle cellule di Leydig da deficit di LHB","synonyms":["Disturbo dello sviluppo sessuale 46,XY da deficit di LHB","Ipoplasia delle cellule di Leydig da deficit della subunità beta dell'ormone luteinizzante","DSD 46,XY da deficit della subunità beta dell'ormone luteinizzante","DSD 46,XY da deficit di LHB","Disturbo dello sviluppo sessuale 46,XY da deficit della subunità beta dell'ormone luteinizzante"]},"nl":{"name":"Hypoplasie van Leydigcellen door LHB-deficiëntie","synonyms":["46,XY-DSD door LHB-deficiëntie","46,XY-DSD door deficiëntie van luteïniserend hormoon bèta-subeenheid","46,XY-geslachtsontwikkelingsstoornis door LHB-deficiëntie","46,XY-geslachtsontwikkelingsstoornis door deficiëntie van luteïniserend hormoon bèta-subeenheid","Hypoplasie van Leydigcellen door deficiëntie van luteïniserend hormoon bèta-subeenheid"]},"pt":{"name":"Hipoplasia das células de Leydig por deficiência de LHB"},"pl":{"name":"Hipoplazja komórek Leydiga z powodu niedoboru LHB","synonyms":["Hipoplazja komórek Leydiga z powodu niedoboru podjednostki beta hormonu luteinizującego","Zaburzenie różnicowania płci z kariotypem 46,XY z powodu niedoboru LHB","Zaburzenie różnicowania płci z kariotypem 46,XY z powodu niedoboru podjednostki beta hormonu luteinizującego","ZRP 46,XY z powodu niedoboru LHB","ZRP 46,XY z powodu niedoboru podjednostki beta hormonu luteinizującego"]},"cs":{"name":"Hypoplázie Leydigových buněk způsobená LHB deficitem","synonyms":["46,XY DSD způsobená LHB deficitem","46,XY DSD způsobená deficitem luteinizačního hormonu podjednotky beta","46,XY porucha pohlavního vývoje způsobená LHB deficitem","46,XY porucha pohlavního vývoje způsobená deficitem podjednotky beta luteinizačního hormonu","Hypoplázie Leydigových buněk způsobená deficitem podjednotky beta luteinizačního hormonu"]},"uk":{"name":"Гіпоплазія клітин Лейдіга, зумовлене дефіцитом LHB","synonyms":["46,XY порушення статевого розвитку внаслідок дефіциту LHB","46,XY порушення статевого розвитку внаслідок дефіциту бета-субодиниці лютеїнізуючого гормону","46,XY ПСР через дефіцит LHB","46,XY ПСР внаслідок дефіциту бета-субодиниці лютеїнізуючого гормону","Гіпоплазія клітин Лейдіга внаслідок дефіциту бета-субодиниці лютеїнізуючого гормону"]},"zh":{"name":"LHB缺乏所致睾丸莱迪氏细胞发育不良","synonyms":["46，XY 黄体生成素β亚单位缺乏所致性发育障碍"]},"tr":{"name":"LHB eksikliğine bağlı Leydig hücre hipoplazisi","synonyms":["LHB eksikliği nedeniyle 46, XY DSD","LHB eksikliğine bağlı 46,XY cinsel gelişim bozukluğu","Luteinize edici hormon alt birim beta eksikliği nedeniyle 46,XY DSD","Luteinize edici hormon alt birim beta eksikliğine bağlı Leydig hücre hipoplazisi","Luteinize edici hormon alt birim beta eksikliğine bağlı 46, XY cinsiyet gelişim bozukluğu"]}},"xrefs":[{"source":"OMIM","code":"228300","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q56.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2A.3","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0009223","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10127","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":755,"name":"Leydig cell hypoplasia","classifications":[147,156,185,193,201,233]}],"children":[],"genes":[{"symbol":"LHB","name":"luteinizing hormone subunit beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"6584","ensembl":"ENSG00000104826","omim":"152780","loci":["19q13.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}