{"orpha":755,"name":"Leydig cell hypoplasia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["46,XY DSD due to LH resistance or LHB deficiency","46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency","46,XY disorder of sex development due to LH resistance or LHB deficiency","46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency"],"definition":"A rare 46,XY difference of sex development due to impaired androgen production characterized by impaired normal male sexual development. The severity of the disorder varies and can manifest in its severe form with complete 46,XY male pseudohermaphroditism, including low testosterone and high luteinizing hormone levels, absent development of secondary male sex characteristics and lack of breast development. Patients with the milder form can have a wider range of phenotypes, ranging from micropenis to severe hypospadias.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-755/","orphanet_url":"https://www.orpha.net/en/disease/detail/755","names":{"fr":{"name":"Hypoplasie des cellules de Leydig","synonyms":["ADS 46,XY par résistance à l'hormone lutéinisante ou déficit en hormone lutéinisante bêta","ADS 46,XY par résistance à la LH ou déficit en LHB","Anomalie du développement sexuel 46,XY par résistance à l'hormone lutéinisante ou déficit en hormone lutéinisante bêta","Anomalie du développement sexuel 46,XY par résistance à la LH ou déficit en LHB","DSD 46,XY par résistance à l'hormone lutéinisante ou déficit en hormone lutéinisante bêta","DSD 46,XY par résistance à la LH ou déficit en LHB"],"definition":"Anomalie rare du développement sexuel 46,XY par défaut de production d'androgènes, caractérisée par un trouble du développement sexuel masculin. La forme sévère de la maladie peut se manifester par un pseudohermaphrodisme masculin de caryotype complet 46,XY, dont de faibles taux de testostérone, des taux élevés d'hormone lutéinisante, l'absence de développement des caractères sexuels secondaires masculins et l'absence de développement mammaire. Les patients avec une forme légère présentent un large spectre phénotypique, allant d'un micropénis à un hypospadias sévère."},"de":{"name":"Leydig-Zell-Hypoplasie","synonyms":["46,XY DSD durch LH-Resistenz oder LHB-Mangel","Störung der Geschlechtsentwicklung 46,XY, durch LH-Resistenz oder LHB-Mangel","Störung der Geschlechtsentwicklung 46,XY, durch Resistenz des luteinisierenden Hormons oder Mangel der Luteinisierendes-Hormon-beta-Untereinheit"],"definition":"Eine seltene Störung der Geschlechtsentwicklung aufgrund einer gestörten Androgenproduktion, die zu einer Beeinträchtigung der männliche Geschlechtsentwicklung führt. Der Schweregrad der Störung variiert und kann sich in der schweren Form mit vollständigem männlichem 46,XY-Pseudohermaphroditismus manifestieren, einschließlich niedriger Testosteron- und hoher luteinisierender Hormonspiegel, fehlender Entwicklung sekundärer männlicher Geschlechtsmerkmale und fehlender Brustentwicklung. Patienten mit der milderen Form können ein breiteres Spektrum an Phänotypen aufweisen, das von Mikropenis bis zu schwerer Hypospadie reicht."},"es":{"name":"Hipoplasia de células de Leydig","synonyms":["TDS 46,XX por resistencia a LH o por deficiencia de LHB","TDS 46,XX por resistencia a la hormona luteinizante o por deficiencia de la subunidad beta de la hormona luteinizante","Trastorno del desarrollo sexual 46,XX por resistencia a LH o por deficiencia de LHB","Trastorno del desarrollo sexual 46,XX por resistencia a la hormona luteinizante o por deficiencia de la subunidad beta de la hormona luteinizante"],"definition":"Es un desarrollo sexual diferente 46 X,Y poco frecuente debido a una deficiente producción de andrógenos caracterizado por la alteración del desarrollo sexual masculino normal. La gravedad del trastorno es variable, pudiendo manifestarse en su forma más grave como pseudo-hermafroditismo masculino 46, XY completo, que incluye bajos niveles de testosterona y hormona luteinizante, ausencia del desarrollo de las características sexuales secundarias masculinas y falta de desarrollo mamario. Los pacientes con la forma más leve pueden presentar una gama más amplia de fenotipos, variando desde micropene hasta hipospadias grave."},"it":{"name":"Ipoplasia delle cellule di Leydig","synonyms":["DSD 46,XY da resistenza a LH o deficit di LHB","DSD 46,XY da resistenza all'ormone luteinizzante o deficit della subunità beta dell'ormone luteinizzante","Disturbo dello sviluppo sessuale 46,XY da deficit della subunità beta dell'ormone luteinizzante","Disturbo dello sviluppo sessuale 46,XY da resistenza a LH o deficit di LHB","Pseudoermafroditismo maschile da resistenza a LH o deficit di LHB","Pseudoermafroditismo maschile da resistenza all'ormone luteinizzante o deficit della subunità beta dell'ormone luteinizzante"],"definition":"Si tratta di una malattia rara dello sviluppo sessuale con cariotipo 46,XY, causato dalla compromissione della produzione degli androgeni, e caratterizzato da anomalie dello sviluppo sessuale maschile. La gravità della malattia è variabile; nelle forme più gravi è caratterizzata da pseudoermafroditismo maschile completo con cariotipo 46,XY, bassi livelli di testosterone e elevati livelli dell'ormone luteinizzante, e mancato sviluppo dei caratteri sessuali secondari maschili e delle mammelle. I pazienti affetti dalla forma più lieve possono presentare un'ampia gamma di fenotipi, che vanno dal micropene all'ipospadia grave."},"nl":{"name":"Hypoplasie van Leydigcellen","synonyms":["46,XY-DSD door LH-resistentie of LHB-deficiëntie","46,XY-DSD door resistentie tegen luteïniserend hormoon of door deficiëntie van luteïniserend hormoon bèta-subeenheid","46,XY-geslachtsontwikkelingsstoornis door LH-resistentie of LHB-deficiëntie","46,XY-geslachtsontwikkelingsstoornis door resistentie tegen luteïniserend hormoon of door deficiëntie van luteïniserend hormoon bèta-subeenheid"],"definition":"Een zeldzame 46,XY-variatie in geslachtsontwikkeling door verstoorde productie van androgeen, gekenmerkt door een verstoorde mannelijke geslachtsontwikkeling. De ernst van de stoornis varieert en de ernstige vorm kan zich manifesteren met volledig 46,XY mannelijk pseudohermafroditisme, inclusief lage gehaltes testosteron en hoge gehaltes luteïniserend hormoon, geen ontwikkeling van secundaire mannelijke geslachtskenmerken en gebrek aan borstontwikkeling. Patiënten met de mildere vorm kunnen een bredere waaier van fenotypes vertonen, gaande van micropenis tot ernstige hypospadie."},"pt":{"name":"Hipoplasia das células de Leydig","synonyms":["Pseudo-hermafroditismo masculino por deficiência na molécula de LH"],"definition":"Diferença no desenvolvimento sexual 46,XY rara devido à produção deficiente de androgénios, caracterizada por comprometer o desenvolvimento sexual masculino normal. A perturbação varia e pode manifestar-se na sua forma grave com pseudo-hermafroditismo masculino completo 46,XY, incluindo baixos níveis de testosterona e altos níveis de hormona luteinizante, ausência de desenvolvimento de características sexuais masculinas secundárias e falta de desenvolvimento mamário. Os doentes com a forma mais ligeira podem ter uma maior gama de fenótipos, variando de micropénis a hipospádia grave."},"pl":{"name":"Hipoplazja komórek Leydiga","synonyms":["46,XY DSD z powodu niewrażliwości na hormon luteinizujący lub Niedobór podjednostki beta hormonu luteinizującego","46,XY DSD z powodu niewrażliwości na LH lub niedoboru LHB","46,XY zaburzenie różnicowania płci z powodu niewrażliwości na hormon luteinizujący lub Niedobór podjednostki beta hormonu luteinizującego","46,XY zaburzenie różnicowania płci z powodu niewrażliwości na LH lub niedoboru LHB","Pseudohermafrodytyzm męski z powodu niewrażliwości na hormon luteinizujący lub Niedobór podjednostki beta hormonu luteinizującego","Pseudohermafrodytyzm męski z powodu niewrażliwości na LH lub niedoboru LHB"],"definition":"Rzadkie zaburzenie różnicowania płci z kariotypem 46,XY, spowodowane upośledzoną produkcją androgenów. Charakteryzuje się prawidłowym dla płci męskich rozwojem płciowym. Nasilenie zaburzenia jest różne i może obejmować spektrum od ciężkiej postaci z całkowitym męskim pseudohermafrodytyzmem i kariotypem 46,XY, z niskim poziomem testosteronu i wysokim poziom hormonu luteinizującego, brakiem rozwoju drugorzędowych męskich cech płciowych i brakiem rozwoju piersi do postaci łagodniejszej z szerszym zakresem fenotypów, od mikropenisa do ciężkiego spodziectwa."},"cs":{"name":"Hypoplázie Leydigových buněk","synonyms":["46,XY DSD způsobená rezistencí k LH nebo deficitu LHB","46,XY DSD způsobená rezistencí k luteinizačnímu hormonu nebo deficitu beta podjednotky luteinizačního hormonu","46,XY porucha pohlavního vývoje způsobená rezistencí k LH nebo deficitu LHB","46,XY porucha pohlavního vývoje způsobená rezistencí k luteinizačnímu hormonu nebo deficitu beta podjednotky luteinizačního hormonu","Mužský pseudohermafroditismus způsobený rezistencí k LH nebo deficitu LHB","Mužský pseudohermafroditismus způsobený rezistencí k luteinizačnímu hormonu nebo deficitu beta podjednotky luteinizačního hormonu"]},"uk":{"name":"Гіпоплазія клітин Лейдіга","synonyms":["46,XY порушення статевого розвитку внаслідок резистентності до ЛГ або дефіциту ЛГБ","46,XY порушення статевого розвитку внаслідок резистентності до лютеїнізуючого гормону або дефіциту бета-субодиниці лютеїнізуючого гормону","46,XY DSD через резистентність до ЛГ або дефіцит ЛГБ","46,XY МДД внаслідок резистентності до лютеїнізуючого гормону або дефіциту бета-субодиниці лютеїнізуючого гормону"],"definition":"A rare 46,XY difference of sex development due to impaired androgen production characterized by impaired normal male sexual development. The severity of the disorder varies and can manifest in its severe form with complete 46,XY male pseudohermaphroditism, including low testosterone and high luteinizing hormone levels, absent development of secondary male sex characteristics and lack of breast development. Patients with the milder form can have a wider range of phenotypes, ranging from micropenis to severe hypospadias."},"zh":{"name":"Leydig细胞发育不全","synonyms":["促黄体生成素抵抗或促黄体生成素β亚基缺乏所致46，XY性发育异常"]},"tr":{"name":"Leydig hücre hipoplazisi","synonyms":["46,XY LH direnci veya LHB eksikliğine bağlı DSD","46,XY LH direnci veya LHB eksikliğine bağlı cinsiyet gelişim bozukluğu","46,XY luteinize edici hormon direnci veya luteinize edici hormon beta alt birim eksikliğine bağlı DSD","46,XY luteinize edici hormon direnci veya luteinize edici hormon beta alt birimi eksikliğine cinsiyet gelişimi bozukluğu"]}},"xrefs":[{"source":"OMIM","code":"238320","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E34.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2A.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"472787488"},{"source":"MONDO","code":"0019155","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562567","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0860158","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3244","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10024406","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":325357,"name":"46,XY difference of sex development due to impaired androgen production","classifications":[147,156,185,193,233]},{"orpha":399685,"name":"Rare male infertility due to testicular endocrine disorder","classifications":[156,201]}],"children":[{"orpha":325448,"name":"Leydig cell hypoplasia due to LHB deficiency","type":"Clinical subtype"},{"orpha":96265,"name":"Leydig cell hypoplasia due to complete LH resistance","type":"Clinical subtype"},{"orpha":96266,"name":"Leydig cell hypoplasia due to partial LH resistance","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"LHCGR","name":"luteinizing hormone/choriogonadotropin receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":null,"hgnc":"6585","ensembl":"ENSG00000138039","omim":"152790","loci":["2p16.3"],"via":{"orpha":96265,"name":"Leydig cell hypoplasia due to complete LH resistance"}},{"symbol":"LHCGR","name":"luteinizing hormone/choriogonadotropin receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":null,"hgnc":"6585","ensembl":"ENSG00000138039","omim":"152790","loci":["2p16.3"],"via":{"orpha":96266,"name":"Leydig cell hypoplasia due to partial LH resistance"}},{"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"],"via":{"orpha":325448,"name":"Leydig cell hypoplasia due to LHB deficiency"}}],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":70.0,"area":"Worldwide","status":"Validated","source":"39162678[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"39162678[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-01-06","source":"152780[PMID]_152790[PMID]_7581384[PMID]_10852464[PMID]_12050206[PMID]_23044874[PMID]_6792847[PMID]_1617805[PMID]_7719343[PMID]","terms":[{"hpo":"HP:0000811","label":"Abnormal external genitalia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000812","label":"Abnormal internal genitalia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008187","label":"Absence of secondary sex characteristics","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000151","label":"Aplasia of the uterus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100783","label":"Breast aplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040171","label":"Decreased serum testosterone concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000134","label":"Female hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010790","label":"Hyoplasia of the Leydig cells","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000815","label":"Hypergonadotropic hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000837","label":"Increased circulating gonadotropin level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000026","label":"Male hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000037","label":"Male pseudohermaphroditism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000118","label":"Phenotypic abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000786","label":"Primary amenorrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008193","label":"Primary gonadal insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012872","label":"Abnormal vas deferens morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000869","label":"Secondary amenorrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000030","label":"Testicular gonadoblastoma","frequency":"Occasional (29-5%)","criteria":null}]}}