{"orpha":247768,"name":"Müllerian aplasia and hyperandrogenism","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Müllerian duct failure and hyperandrogenism","WNT4 deficiency"],"definition":"A rare syndrome with 46,XX difference of sex development characterized by Müllerian duct hypoplasia or agenesis associated with clinical and biological evidence of hyperandrogenism in 46,XX females. Patients present with hypoplastic or absent uterus, variable abnormalities of other reproductive organs, primary amenorrhea, acne, hirsutism, and sometimes renal anomalies. External genitalia and secondary sexual characteristics are normal. Hormonal analysis shows variably elevated serum levels of androstenedione, dehydroepiandrosterone, and/or total and free testosterone.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-247768/","orphanet_url":"https://www.orpha.net/en/disease/detail/247768","names":{"fr":{"name":"Aplasie müllérienne et hyperandrogénie","synonyms":["Aplasie des canaux de Müller et hyperandrogénie","Déficit en WNT4"],"definition":"Syndrome rare avec une anomalie du développement sexuel 46,XX caractérisé par une hypoplasie ou une agénésie du canal müllérien associée à des signes cliniques et résultats d'analyses biologiques mettant en évidence une hyperandrogénie chez les caryotypes féminins (46, XX). Les patientes présentent une hypoplasie ou une aplasie de l'utérus, des malformations variables des autres organes reproducteurs, une aménorrhée primaire, de l'acné, de l'hirsutisme et parfois des malformations rénales. Les organes génitaux externes et les caractères sexuels secondaires sont normaux. L'analyse hormonale révèle des taux sériques élevés et variables d'androsténédione, de déhydroépiandrostérone et/ou de la testostérone totale et libre."},"de":{"name":"Müller-Gang-Aplasie und Hyperandrogenismus","synonyms":["WNT4-Mangel"],"definition":"Eine seltene Störung der Geschlechtsentwicklung (DSD) mit 46,XX-Karyotyp, die gekennzeichnet ist durch Hypoplasie oder Agenesie der paramesonephrischen (Müller)-Gänge in Verbindung mit klinischen und biologischen Anzeichen von Hyperandrogenismus bei 46,XX-Frauen. Die Patienten zeigen einen hypoplastischen oder fehlenden Uterus, variable Anomalien anderer Fortpflanzungsorgane, primäre Amenorrhoe, Akne, Hirsutismus und manchmal Nierenanomalien. Das äußere Genitale und die sekundären Geschlechtsmerkmale sind normal. Die Hormonanalyse zeigt unterschiedlich hohe Serumspiegel von Androstendion, Dehydroepiandrosteron und/oder Gesamt- und freiem Testosteron."},"es":{"name":"Aplasia mulleriana e hiperandrogenismo","synonyms":["Deficiencia de WNT4","Fallo en el conducto mulleriano e hiperandrogenismo"],"definition":"Es un desarrollo sexual diferente (DSD) 46, XX poco frecuente caracterizado por hipoplasia o agenesia del conducto de Müller asociado a evidencia clínica y biológica de hiperandrogenismo en mujeres 46, XX. Las pacientes presentan útero hipoplásico o ausente, anomalías variables de otros órganos reproductores, amenorrea primaria, acné, hirsutismo y, en ocasiones, anomalías renales. Los genitales externos y las características sexuales secundarias son normales. El análisis hormonal muestra niveles séricos elevados de androstenediona, dehidroepiandrosterona y/o testosterona total y libre de forma variable."},"it":{"name":"Aplasia mülleriana e iperandrogenismo","synonyms":["Deficit di WNT4","Insufficienza dei dotti mülleriani e iperandrogenismo"],"definition":"cliniche e biologiche di iperandrogenismo. Le pazienti presentano ipoplasia o agenesia dell'utero, anomalie variabili degli altri organi riproduttivi, amenorrea primaria, acne, irsutismo e, talvolta, anomalie renali. I genitali esterni e i caratteri sessuali secondari sono normali. Le analisi ormonali mostrano livelli elevati di androstenedione, deidroepiandrosterone e/o testosterone totale e libero nel siero."},"nl":{"name":"Mülleriaanse aplasie en hyperandrogenisme","synonyms":["Aplasie van gang van Müller en hyperandrogenisme","WNT4-deficiëntie"],"definition":"Een zeldzaam syndroom met 46,XX-variatie in geslachtsontwikkeling, gekenmerkt door hypoplasie of agenesie van gang van Müller, geassocieerd met klinisch en biologisch bewijs van hyperandrogenisme bij 46,XX-vrouwen. Patiënten vertonen hypoplastische of afwezige uterus, variabele afwijkingen van andere voortplantingsorganen, primaire amenorroe, acne, hirsutisme, en soms nieranomalieën. Uitwendige geslachtsorganen en secundaire geslachtskenmerken zijn normaal. Hormonale analyse toont variabel verhoogde gehaltes in serum van androsteendion, dehydro-epiandrosteron, en/of totaal en vrij testosteron."},"pt":{"name":"Síndrome Mayer-Rokitansky-Küster-Hauser atípico","synonyms":["Deficiência WNT4","Hiperandrogenismo e falência dos ductos Mulerianos"],"definition":"Síndrome de diferença no desenvolvimento sexual 46,XX, rara, caracterizada por hipoplasia ou agenesia do ducto mülleriano associada a evidência clínica e biológica de hiperandrogenismo no indivíduo feminino 46,XX. As doentes apresentam um útero hipoplásico ou ausente, anomalias variáveis ​​de outros órgãos reprodutivos, amenorreia primária, acne, hirsutismo e, por vezes, anomalias renais. A genitália externa e as características sexuais secundárias são normais. A análise hormonal mostra níveis séricos variavelmente elevados de androstenediona, desidroepiandrosterona e/ou testosterona total e livre."},"pl":{"name":"Aplazja przewodów Mullera i hiperandrogenizm","synonyms":["Niedobór WNT4","Nieprawidłowości przewodów Mullera i hiperandrogenizm"],"definition":"Rzadkie zaburzenie różnicowania płci u osób z kariotypem 46,XX, charakteryzujące się hipoplazją lub agenezją przewodów Müllera powiązaną z klinicznymi i biologicznymi cechami hiperandrogenizmu u kobiet z kariotypem 46,XX. U pacjentek występuje hipoplastyczna macica lub jej brak, różne nieprawidłowości innych narządów rozrodczych, pierwotny brak miesiączki, trądzik, hirsutyzm, a czasami wady nerek. Zewnętrzne narządy płciowe i drugorzędowe cechy płciowe są prawidłowe. Analiza hormonalna wykazuje zmiennie podwyższone poziomy androstenedionu, dehydroepiandrosteronu i/lub całkowitego i wolnego testosteronu w surowicy."},"cs":{"name":"Mülleriánská aplázie a hyperandrogenismus","synonyms":["Porucha Müllerových vývodu a hyperandrogenismus","WNT4 deficit","Porucha Müllerových vývodů a hyperandrogenismus"]},"uk":{"name":"Мюллерова аплазія та гіперандрогенія","synonyms":["Неспроможність Мюллерової протоки та гіперандрогенія","Дефіцит WNT4"],"definition":"A rare syndrome with 46,XX difference of sex development characterized by Müllerian duct hypoplasia or agenesis associated with clinical and biological evidence of hyperandrogenism in 46,XX females. Patients present with hypoplastic or absent uterus, variable abnormalities of other reproductive organs, primary amenorrhea, acne, hirsutism, and sometimes renal anomalies. External genitalia and secondary sexual characteristics are normal. Hormonal analysis shows variably elevated serum levels of androstenedione, dehydroepiandrosterone, and/or total and free testosterone."},"zh":{"name":"苗勒管发育不全和雄激素增多症","synonyms":["苗勒管发育不全和雄激素增多症"]},"tr":{"name":"Müllerian aplazisi ve hiperandrojenizm","synonyms":["WNT4 eksikliği","Müllerian kanal yetmezliği ve hiperandrojenizm"]}},"xrefs":[{"source":"OMIM","code":"158330","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q51.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008019","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567186","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2675014","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10088125","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":180068,"name":"Partial bilateral aplasia of the Müllerian ducts","classifications":[147,156,185,205,233]},{"orpha":325109,"name":"Syndrome with 46,XX difference of sex development","classifications":[147,156,185,193]},{"orpha":325638,"name":"Syndrome with difference of sex development of gynecological interest","classifications":[156,205]}],"children":[],"genes":[{"symbol":"WNT4","name":"Wnt family member 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"16959810[PMID]_18182450[PMID]","hgnc":"12783","ensembl":"ENSG00000162552","omim":"603490","loci":["1p36.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-03-16","source":"18182450[PMID]_15317892[PMID]_16959810[PMID]_23725784[PMID]_22906151[PMID]_17359527[PMID]","terms":[{"hpo":"HP:0000142","label":"Abnormality of the vagina","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001061","label":"Acne","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009937","label":"Facial hirsutism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002292","label":"Frontal balding","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009890","label":"High anterior hairline","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001007","label":"Hirsutism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000013","label":"Hypoplasia of the uterus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030088","label":"Increased serum testosterone level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000786","label":"Primary amenorrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000137","label":"Abnormality of the ovary","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002967","label":"Cubitus valgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000104","label":"Renal agenesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000914","label":"Shield chest","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Occasional (29-5%)","criteria":null}]}}