{"orpha":983,"name":"Testicular regression syndrome","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["ETRS","Embryonic testicular regression syndrome","TRS","Vanishing testes syndrome","Vanishing testis syndrome","XY gonadal agenesis syndrome"],"definition":"Testicular regression syndrome (TRS) is a developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-983/","orphanet_url":"https://www.orpha.net/en/disease/detail/983","names":{"fr":{"name":"Anorchidie congénitale isolée","synonyms":["Agénésie testiculaire XY","Syndrome de régression testiculaire","Syndrome du testicule évanescent","TRS"],"definition":"Anomalie du développement caractérisée par l'absence d'un ou des deux testicules et l'absence partielle ou totale de tissu testiculaire. Le syndrome de régression testiculaire s'étend d'un phénotype masculin, celui d'un garçon normal avec un testicule unilatéral non palpable, en passant par un phénotype masculin, celui d'un garçon avec un micropénis, à un phénotype féminin. Le phénotype varie en fonction de l'étendue et du moment de la survenue de la régression gonadique <i>in utero.</i>"},"de":{"name":"Testikuläres Regressionssyndrom","synonyms":["ETRS","Embryonales testikuläres Regressionssyndrom","Hodenagenesie, kongenitale","TRS","Vanishing-Testes-Syndrom","XY-Gonaden-Agenesie"]},"es":{"name":"Síndrome de regresión testicular","synonyms":["ETRS","Síndrome de testículos desvanecidos","Síndrome embrionario de regresión testicular","TRS"],"definition":"El síndrome de regresión testicular (TRS) es una anomalía del desarrollo caracterizada por la ausencia de uno o ambos testículos con ausencia parcial o total de tejido testicular. El TRS puede variar desde un varón normal con testículos unilaterales no palpables, pasando por un varón fenotípico con micropene, hasta un fenotipo femenino. El fenotipo depende de la extensión y el momento de la alteración intrauterina relacionada con el desarrollo sexual."},"it":{"name":"Sindrome da regressione testicolare","synonyms":["ETRS","Sindrome dei testicoli evanescenti","Sindrome embrionale da regressione testicolare","TRS"]},"nl":{"name":"Testiculaire regressie-syndroom","synonyms":["ETRS","Embryonale testiculaire regressie-syndroom","TRS","Verdwijnende testes-syndroom","Verdwijnende testis-syndroom","XY gonadale agenesie-syndroom"],"definition":"Testiculair regressiesyndroom (TRS) is een ontwikkelingsstoornis gekenmerkt door de afwezigheid van één of beide testikels met gedeeltelijke of volledige afwezigheid van testiculair weefsel. TRS kan variëren van een normale man met een unilaterale niet-palbeerbare testis en fenotypische man met micropenis, tot een vrouwelijk fenotype. Het fenotype is afhankelijk van de mate en timing van het intrauteriene voorval met betrekking tot seksuele ontwikkeling."},"pt":{"name":"Síndrome de regressão testicular","synonyms":["Agenesia gonadal XY","Anorquia","Ausência congénita de testículos","Síndrome de desaparecimento testicular"]},"pl":{"name":"Zespół regresji jąder","synonyms":["Embrionalny zespół regresji jąder","ETRS","TRS","Zespół zanikających jąder"]},"cs":{"name":"Syndrom testikulární regrese","synonyms":["ETRS","Syndrom embryonální testikulární regrese","TRS","Syndrom mizejících varlat"]},"uk":{"name":"Синдром регресії яєчок","synonyms":["Синдром ембріональної регресії яєчок","ETRS","TRS","Синдром зникнення яєчок","Синдром зниклого яєчка","Синдром XY-агенезії гонад"],"definition":"Testicular regression syndrome (TRS) is a developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development."},"zh":{"name":"睾丸退化综合征","synonyms":["胚胎睾丸退化综合征"]},"tr":{"name":"Testis regresyon sendromu","synonyms":["TRS","ETRS","Kaybolan testis sendromu","Kaybolan testis sendromu","XY gonadal agenez sendromu","Embriyonik testiküler regresyon sendromu"]}},"xrefs":[{"source":"OMIM","code":"273250","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q55.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LD2A.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1581551380"},{"source":"MONDO","code":"8000015","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0266427","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":[{"symbol":"DHX37","name":"DEAH-box helicase 37","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31287541[PMID]","hgnc":"17210","ensembl":"ENSG00000150990","omim":"617362","loci":["12q24.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000008","label":"Abnormal morphology of female internal genitalia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000022","label":"Abnormality of male internal genitalia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010469","label":"Absent testis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008633","label":"Agonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010468","label":"Aplasia/Hypoplasia of the testes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000144","label":"Decreased fertility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000037","label":"Male pseudohermaphroditism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000271","label":"Abnormality of the face","frequency":"Occasional (29-5%)","criteria":null}]}}