{"orpha":90796,"name":"46,XY difference of sex development due to isolated 17,20-lyase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["46,XY disorder of sex development due to isolated 17,20-lyase deficiency"],"definition":"A rare difference of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by female or atypical external genitalia with reduced phallic size, hypospadias, incomplete fusion of the labioscrotal swellings, cryptorchidism, and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol, and low basal and stimulated androgen levels.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90796/","orphanet_url":"https://www.orpha.net/en/disease/detail/90796","names":{"fr":{"name":"Différence du développement sexuel 46,XY par déficit isolé en 17,20-lyase","synonyms":["Anomalie du développement sexuel 46,XY par déficit isolé en 17,20-lyase"],"definition":"Différence rare de développement sexuel due à une activité réduite de la 17,20-lyase affectant les porteurs d'un caryotype 46,XY qui se caractérise par des organes génitaux externes féminins ou atypiques, à savoir un micropénis, un hypospadias, une fusion incomplète des renflements labioscrotaux, une cryptorchidie et une poche vaginale aveugle. La tension artérielle et le taux d'électrolytes sont normaux, tandis que le bilan hormonal met en évidence des taux normaux de cortisol basal et stimulé, et de faibles taux d'androgènes basal et stimulé."},"de":{"name":"Störung der Geschlechtsentwicklung 46,XY, durch isolierten 17,20-Lyase-Mangel","definition":"Eine seltene Abweichung der Geschlechtsentwicklung aufgrund einer verminderten 17,20-Lyase-Aktivität, die Personen mit 46,XY-Karyotyp betrifft und durch weibliche oder atypische äußere Genitalien mit verringerter Phallusgröße, Hypospadie, unvollständige Fusion der Genitalwulst, Kryptorchismus und einem blinden Vaginalbeutel gekennzeichnet ist. Blutdruck und Elektrolyte sind normal, während Hormonuntersuchungen normale basale und stimulierte Cortisolspiegel und niedrige basale und stimulierte Androgenspiegel zeigen."},"es":{"name":"Desarrollo sexual diferente 46,XY por deficiencia aislada de 17,20-liasa","synonyms":["DSD 46,XY por deficiencia aislada de 17,20-liasa","Trastorno del desarrollo sexual 46,XY por deficiencia aislada de 17,20-liasa"],"definition":"Es una forma poco frecuente de desarrollo sexual diferente debido a una actividad reducida de la 17,20-liasa que afecta a individuos con cariotipo 46,XY y que se caracteriza por genitales externos femeninos o atípicos con tamaño fálico reducido, hipospadias, fusión incompleta de los pliegues labioescrotales, criptorquidia y bolsa vaginal ciega. La presión arterial y los electrolitos son normales, mientras que los analíticas hormonales muestran niveles basales y estimulados de cortisol normales, y niveles de andrógenos basales y estimulados disminuidos."},"it":{"name":"Disturbo dello sviluppo sessuale da deficit isolato di 17,20-liasi con cariotipo 46,XY","definition":"Il disturbo dello sviluppo sessuale da deficit isolato di 17,20-liasi con cariotipo 46,XY è una malattia rara dello sviluppo sessuale, causata da una diminuzione dell'atività della 17,20-liasi, che colpisce i soggetti con cariotipo normale maschile. È caratterizzato da genitali esterni ambigui, micropene, ipospadia perineale, scroto bifido, criptorchidismo e tunica vaginale a fondo cieco. La pressione arteriosa e gli elettroliti sono normali; gli esami ormonali evidenziano livelli normali di cortisolo basale e dopo stimolazione, e livelli bassi di androgeni basali e dopo stimolazione."},"nl":{"name":"46,XY-geslachtsontwikkelingsstoornis door geïsoleerde deficiëntie van 17,20-lyase","definition":"Een zeldzame geslachtsontwikkelingsstoornis door verminderde activiteit van 17,20-lyase die individuen met karyotype 46,XY treft, gekenmerkt door vrouwelijke of atypische uitwendige geslachtsorganen met gereduceerde grootte van penis, hypospadie, onvolledige fusie van labioscrotale zwellingen, cryptorchisme, en een blind eindigende vaginale buidel. Bloeddruk en elektrolyten zijn normaal, terwijl hormonale onderzoeken normale basale en gestimuleerde gehaltes van cortisol en lage basale en gestimuleerde gehaltes van androgeen aantonen."},"pt":{"name":"Doença do desenvolvimento sexual 46,XY por deficiência de 17,20-liase isolada","definition":"Alteração do desenvolvimento sexual rara devida a atividade reduzida da 17,20-liase que afeta indivíduos com cariótipo 46,XY e caracterizada por genitália externa feminina ou atípica com tamanho fálico reduzido, hipospádias, fusão incompleta das dobras labioescrotais, criptorquidia e bolsa vaginal cega. A pressão arterial e os eletrólitos estão normais, enquanto os exames hormonais demostram níveis basais e estimulados de cortisol normais e níveis basais e estimulados de androgénios baixos."},"pl":{"name":"Zaburzenie różnicowania płci z kariotypem 46,XY spowodowane izolowanym niedoborem 17, 20-liazy","synonyms":["46,XY disorder of sex development due to isolated 17,20-lyase deficiency"],"definition":"Rzadka postać zaburzenia różnicowania płci spowodowana zmniejszoną aktywnością 17,20-liazy, która dotyczy osób z kariotypem 46,XY i charakteryzuje się żeńskimi lub atypowo zbudowanymi zewnętrznymi narządami płciowymi o zmniejszonym rozmiarze fallicznym, spodziectwem, niecałkowitym zrośnięciem obrzęków wargowo-mosznowych, wnętrostwem i ślepym woreczkiem pochwowym. Ciśnienie krwi i poziomy elektrolitów są w normie, natomiast w badaniach hormonalnych stwierdza się prawidłowy podstawowy i stymulowany poziom kortyzolu oraz niski podstawowy i stymulowany poziom androgenów."},"cs":{"name":"46,XY porucha pohlavního vývoje způsobená izolovaným deficitem 17,20-lyázy","synonyms":["46,XY disorder of sex development due to isolated 17,20-lyase deficiency"]},"uk":{"name":"46,XY порушення статевої диференціації внаслідок ізольованого дефіциту 17,20-ліази","synonyms":["46,XY порушення статевого розвитку внаслідок ізольованого дефіциту 17,20-ліази"],"definition":"A rare difference of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by female or atypical external genitalia with reduced phallic size, hypospadias, incomplete fusion of the labioscrotal swellings, cryptorchidism, and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol, and low basal and stimulated androgen levels."},"zh":{"name":"孤立型17，20-裂解酶缺乏男性假两性畸形"},"tr":{"name":"İzole 17,20-liyaz eksikliğine bağlı 46,XY cinsiyet gelişim bozukluğu"}},"xrefs":[{"source":"OMIM","code":"202110","qualifier":"NTBT","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":"513865687"},{"source":"MONDO","code":"0019597","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681470","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]}],"children":[],"genes":[{"symbol":"CYB5A","name":"cytochrome b5 type A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20080843[PMID]","hgnc":"2570","ensembl":"ENSG00000166347","omim":"613218","loci":["18q22.3"]},{"symbol":"CYP17A1","name":"cytochrome P450 family 17 subfamily A member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12466376[PMID]","hgnc":"2593","ensembl":"ENSG00000148795","omim":"609300","loci":["10q24.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":15.0,"area":"Worldwide","status":"Validated","source":"22170710[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22170710[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2015-11-02","source":"4288776[PMID]_2026124[PMID]_15866602[PMID]_4352099[PMID]_24793988[PMID]_9326943[PMID]_14504283[PMID]_999330[PMID]_8070426[PMID]_14747197[PMID]_11549685[PMID]_7045152[PMID]","terms":[{"hpo":"HP:0012112","label":"Abnormality of circulating corticosterone level","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:0030349","label":"Decreased circulating androgen level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000144","label":"Decreased fertility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008214","label":"Decreased serum estradiol","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040171","label":"Decreased serum testosterone concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100607","label":"Dysmenorrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008232","label":"Elevated circulating follicle stimulating hormone level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011969","label":"Elevated circulating luteinizing hormone level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008675","label":"Enlarged polycystic ovaries","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000815","label":"Hypergonadotropic hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000013","label":"Hypoplasia of the uterus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000147","label":"Polycystic ovaries","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:0004349","label":"Reduced bone mineral density","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002215","label":"Sparse axillary hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002231","label":"Sparse body hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002225","label":"Sparse pubic hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000868","label":"Decreased fertility in females","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012041","label":"Decreased fertility in males","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008726","label":"Hypoplasia of the vagina","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012244","label":"Abnormal sex determination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000033","label":"Ambiguous genitalia, male","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008730","label":"Female external genitalia in individual with 46,XY karyotype","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000771","label":"Gynecomastia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000037","label":"Male pseudohermaphroditism","frequency":"Occasional (29-5%)","criteria":null}]}}