{"orpha":325124,"name":"Testicular agenesis","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Bilateral anorchia"],"definition":"A rare 46,XY disorder of gonadal development characterized by congenital complete absence of testicular tissue in an individual with an otherwise normal male phenotype and normal karyotype. In addition, a small penis is a frequent finding in anorchid patients. Typical hormonal characteristics are elevated basal levels of gonadotropins (especially FSH), low concentration of testosterone, and lack of increase of plasma testosterone in response to hCG administration. The GnRH stimulation test induces a prolonged increase in FSH and LH levels.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-325124/","orphanet_url":"https://www.orpha.net/en/disease/detail/325124","names":{"fr":{"name":"Agénésie testiculaire","synonyms":["Anorchidie bilatérale"],"definition":"Anomalie rare du développement des gonades 46,XY caractérisée par l'absence congénitale complète de tissu testiculaire chez un individu présentant un phénotype masculin par ailleurs normal et un caryotype normal. Chez les patients présentant une anorchidie, on observe souvent un pénis de petite taille. Le profil hormonal typique est caractérisé par des taux basals de gonadotrophines élevés (en particulier la FSH), une faible concentration de testostérone et une absence d'augmentation de testostérone plasmatique à la suite de l'administration de hCG. Le test à la GnRH induit une augmentation prolongée des taux de FSH et de LH."},"de":{"name":"Testikuläre Agenesie","synonyms":["Anorchie, bilaterale"],"definition":"Eine seltene Störung der Geschlechtsentwicklung (DSD) mit 46,XY-Karyotyp, die durch ein angeborenes vollständiges Fehlen von Hodengewebe bei einem Individuum mit einem ansonsten normalen männlichen Phänotyp und normalem Karyotyp gekennzeichnet ist. Darüber hinaus ist ein kleiner Penis ein häufiger Befund bei anorchiden Patienten. Typische hormonelle Merkmale sind erhöhte Basalwerte der Gonadotropine (insbesondere FSH), eine niedrige Testosteronkonzentration und ein ausbleibender Anstieg des Plasmatestosterons als Reaktion auf die Verabreichung von hCG. Der GnRH-Stimulationstest führt zu einem anhaltenden Anstieg der FSH- und LH-Spiegel."},"es":{"name":"Agenesia testicular","synonyms":["Anorquidia bilateral"],"definition":"Es un trastorno poco frecuente del desarrollo gonadal en individuos con cariotipo normal 46, XY caracterizado por la ausencia congénita completa de tejido testicular con un fenotipo masculino por lo demás normal. En pacientes con anorquidia, también es frecuente el hallazgo de un pene pequeño. Las características hormonales habituales incluyen niveles basales elevados de gonadotropinas (especialmente FSH), baja concentración de testosterona y deficiente producción de testosterona plasmática en respuesta a la administración de hCG. La prueba de estímulo con GnRH induce un aumento prolongado de los niveles de FSH y LH."},"it":{"name":"Agenesia testicolare","synonyms":["Anorchia bilaterale"],"definition":"Si tratta di una malattia rara dello sviluppo gonadico, caratterizzata dall'agenesia completa congenita del tessuto testicolare in un individuo con un fenotipo maschile, cariotipo 46,XY, per il resto normale. Spesso i pazienti con anorchidia presentano un micropene. Il profilo ormonale caratteristico comprende livelli basali elevati di gonadotropine (soprattutto FSH), bassa concentrazione del testosterone e un mancato aumento del testosterone nel plasma in risposta alla somministrazione di hCG. Il test con GnRH induce un aumento prolungato dei livelli di FSH e LH."},"nl":{"name":"Testiculaire agenesie","synonyms":["Agenesie van testis","Bilaterale anorchie"],"definition":"Een zeldzame 46,XY-geslachtsontwikkelingsstoornis, gekarakteriseerd door congenitale volledige afwezigheid van testiculair weefsel bij een individu met een voor het overige normaal mannelijk fenotype en normaal karyotype. Daarnaast hebben patiënten met anorchidie vaak een kleine penis. Typische hormonale kenmerken zijn verhoogde basale gehaltes van gonadotropinen (vooral FSH), lage concentratie van testosteron, en gebrek aan toename van testosteron in plasma als reactie op toediening van hCG. De GnRH-test induceert langdurig verhoogde FSH- en LH-gehaltes."},"pt":{"name":"Agenesia testicular"},"pl":{"name":"Agnezja jader","synonyms":["Anorchia obustronna"]},"cs":{"name":"Testikulární ageneze","synonyms":["Úplná anorchie"]},"uk":{"name":"Агенезія яєчок","synonyms":["Двостороння анорхія"],"definition":"A rare 46,XY disorder of gonadal development characterized by congenital complete absence of testicular tissue in an individual with an otherwise normal male phenotype and normal karyotype. In addition, a small penis is a frequent finding in anorchid patients. Typical hormonal characteristics are elevated basal levels of gonadotropins (especially FSH), low concentration of testosterone, and lack of increase of plasma testosterone in response to hCG administration. The GnRH stimulation test induces a prolonged increase in FSH and LH levels."},"zh":{"name":"睾丸发育不全","synonyms":["双侧无睾症"]},"tr":{"name":"Testis agenezisi","synonyms":["Bilateral anorşi"]}},"xrefs":[{"source":"ICD-10","code":"Q55.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2A.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1382370664"},{"source":"MONDO","code":"0017967","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537770","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1261504","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5819","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10002641","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":325118,"name":"46,XY disorder of gonadal development","classifications":[147,156,185,193]},{"orpha":98313,"name":"Male infertility due to gonadal dysgenesis","classifications":[156,201]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.5,"area":"Worldwide","status":"Validated","source":"21853106[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-01-04","source":"9154766[PMID]_17183475[PMID]_15579790[PMID]_25905302[PMID]_4186283[PMID]","terms":[{"hpo":"HP:0012872","label":"Abnormal vas deferens morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000042","label":"Absent external genitalia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010469","label":"Absent testis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040171","label":"Decreased serum testosterone concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000837","label":"Increased circulating gonadotropin level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012870","label":"Vanishing testis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000013","label":"Hypoplasia of the uterus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008716","label":"Urethrovaginal fistula","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100779","label":"Urogenital sinus anomaly","frequency":"Frequent (79-30%)","criteria":null}]}}