{"orpha":444048,"name":"46,XX ovarian dysgenesis-short stature syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic disorder with difference of sex development characterized by primary amenorrhea, short stature, delayed bone age, decreased levels of estradiol, elevated levels of follicle-stimulating hormone and luteinizing hormone, absent or underdeveloped uterus and ovaries, delayed development of pubic and axillary hair, and normal 46,XX karyotype.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-444048/","orphanet_url":"https://www.orpha.net/en/disease/detail/444048","names":{"fr":{"name":"Syndrome de dysgénésie ovarienne 46,XX-petite taille","definition":"Anomalie du développement sexuel d'origine génétique caractérisée par une aménorrhée primaire, une petite taille, un retard de l'âge osseux, de faibles taux d'oestradiol, des taux élevés d'hormone folliculostimulante et d'hormone lutéinisante, une absence partielle ou totale de l'utérus et des ovaires, un retard d'apparition de poils axillaires et pubiens, et un caryotype 46,XX normal."},"de":{"name":"Ovardysgenesie-Kleinwuchs-Syndrom","definition":"Eine seltene genetische Störung mit abweichender Geschlechtsentwicklung, , die durch primäre Amenorrhoe, Kleinwuchs, verzögertes Knochenalter, verringerte Östradiolspiegel, erhöhte Spiegel von follikelstimulierendem Hormon und luteinisierendem Hormon, fehlende oder unterentwickelte Gebärmutter und Eierstöcke, verzögerte Entwicklung von Scham- und Achselhaaren bei normalen 46,XX-Karyotyp gekennzeichnet ist."},"es":{"name":"Síndrome de disgenesia ovárica 46,XX-talla baja","definition":"Es un trastorno genético poco frecuente con desarrollo sexual diferente caracterizado por amenorrea primaria, talla baja, retraso en la edad ósea, disminución de los niveles de estradiol, incremento de los niveles de hormona foliculoestimulante y hormona luteinizante, útero y ovarios ausentes o poco desarrollados, retraso del desarrollo del vello púbico y axilar y cariotipo 46, XX normal."},"it":{"name":"Disgenesia ovarica 46,XX con bassa statura","definition":"È una malattia genetica rara dello sviluppo sessuale, caratterizzata da amenorrea primaria, bassa statura, ritardo dell'età ossea, diminuzione dei livelli di estradiolo, aumento dei livelli dell'ormone follicolo-stimolante e dell'ormone luteinizzante, agenesia o ipoplasia dell'utero e delle ovaie, riardo di comparsa dei peli pubici e ascellari e cariotipo normale 46,XX."},"nl":{"name":"46,XX ovariële dysgenesie - kleine gestalte-syndroom","definition":"Een zeldzame, genetische aandoening met variatie in geslachtsontwikkeling, gekenmerkt door primaire amenorroe, kleine gestalte, vertraagde botmaturatie, verlaagde oestradiolgehaltes, verhoogde gehaltes van follikelstimulerend hormoon en luteïniserend hormoon, afwezige of onderontwikkelde uterus en ovaria, vertraagde ontwikkeling van schaam- en okselhaar, en een normaal 46,XX karyotype."},"pt":{"name":"Síndrome de disgenésia ovárica 46,XX-baixa estatura","definition":"Doença genética rara com diferença no desenvolvimento sexual, caracterizada por amenorreia primária, baixa estatura, idade óssea tardia, níveis reduzidos de estradiol, níveis elevados de hormona folículo-estimulante e hormona luteinizante, útero e ovários ausentes ou subdesenvolvidos, desenvolvimento tardio de pelos púbicos e axilares e cariótipo normal 46,XX."},"pl":{"name":"Zespół dysgenezji jajników i niskiego wzrostu","definition":"Rzadkie genetycznie uwarunkowane zaburzenie różnicowania płci, charakteryzujące się pierwotnym brakiem miesiączki, niskim wzrostem, opóźnionym wiekiem kostnym, obniżonym poziomem estradiolu, podwyższonym poziomem hormonu folikulotropowego i hormonu luteinizującego, brakiem lub słabym rozwojem macicy i jajników, opóźnionym rozwojem owłosienia łonowego i pachowego oraz prawidłowym kariotypem 46,XX."},"cs":{"name":"Syndrom zahrnující ovariální dysgenezi a malý vzrůst při karyotypu 46,XX"},"uk":{"name":"Синдром 46,XX дисгенезії яєчників-низькорослості","definition":"A rare genetic disorder with difference of sex development characterized by primary amenorrhea, short stature, delayed bone age, decreased levels of estradiol, elevated levels of follicle-stimulating hormone and luteinizing hormone, absent or underdeveloped uterus and ovaries, delayed development of pubic and axillary hair, and normal 46,XX karyotype."},"zh":{"name":"46，XX，卵巢发育不良-矮小综合征/卵巢发育不全4型","definition":"一种罕见的遗传性发育障碍，特征是原发性闭经，身材矮小，骨龄延迟，雌二醇水平降低，促卵泡激素和黄体生成激素水平升高，子宫和卵巢缺乏或发育不足，耻骨和腋毛发育延迟，正常的46，XX核型。"},"tr":{"name":"46,XX over disgenezi-kısa boy sendromu"}},"xrefs":[{"source":"OMIM","code":"616185","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617690","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q96.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014520","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4015409","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":98074,"name":"Gonadal dysgenesis of gynecological interest","classifications":[156,205]},{"orpha":399877,"name":"Rare female infertility due to gonadal dysgenesis","classifications":[156,201]},{"orpha":485382,"name":"Rare genetic premature ovarian failure","classifications":[156]},{"orpha":95710,"name":"Rare non-acquired premature ovarian failure","classifications":[193,205]}],"children":[],"genes":[{"symbol":"MCM9","name":"minichromosome maintenance 9 homologous recombination repair factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25480036[PMID]","hgnc":"21484","ensembl":"ENSG00000111877","omim":"610098","loci":["6q22.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"25480036[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25480036[PMID]"}],"phenotypes":null}