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Testicular agenesis

MedGen UID:
98344
Concept ID:
C0405582
Congenital Abnormality
Synonym: Congenital absence of testes
SNOMED CT: Congenital absence of testis (274151005); Absent testicle (congenital) (274151005); Agenesis of testis (1003548004)
 
Monarch Initiative: MONDO:0017967
Orphanet: ORPHA325124

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. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTesticular agenesis

Professional guidelines

PubMed

Weiss RM, Glickman MG, Lytton B
J Urol 1979 Jun;121(6):745-9. doi: 10.1016/s0022-5347(17)56977-3. PMID: 37348
Weiss RM, Glickman MG, Lytton B
Trans Am Assoc Genitourin Surg 1978;70:83-7. PMID: 37630
Stein JJ, von Buedingen R
Urology 1974 Dec;4(6):717-9. doi: 10.1016/0090-4295(74)90254-4. PMID: 4156099

Recent clinical studies

Etiology

Chauhan V, Jyotsna VP, Jain V, Khadgawat R, Dada R
Horm Metab Res 2017 Jan;49(1):36-42. Epub 2016 Oct 6 doi: 10.1055/s-0042-114778. PMID: 27711951
Hadziselimovic F, Hadziselimovic NO, Demougin P, Oakeley EJ
Sex Dev 2011;5(2):49-59. Epub 2011 Feb 5 doi: 10.1159/000323955. PMID: 21412036
Hadziselimovic F, Hadziselimovic NO, Demougin P, Krey G, Hoecht B, Oakeley EJ
Sex Dev 2009;3(5):253-63. Epub 2009 Oct 14 doi: 10.1159/000249147. PMID: 19828938
Rogers E, Teahan S, Gallagher H, Butler MR, Grainger R, McDermott TE, Thornhill JA
J Urol 1998 Mar;159(3):851-4. PMID: 9474167
Stein JJ, von Buedingen R
Urology 1974 Dec;4(6):717-9. doi: 10.1016/0090-4295(74)90254-4. PMID: 4156099

Diagnosis

Cicirelli V, Burgio M, Mrenoshki D, Cseh S, Aiudi G, Lacalandra GM
Vet Med Sci 2023 Mar;9(2):600-603. Epub 2023 Jan 3 doi: 10.1002/vms3.1033. PMID: 36597410Free PMC Article
Papparella A, Romano M, Noviello C, Cobellis G, Nino F, Del Monaco C, Parmeggiani P
J Pediatr Urol 2010 Dec;6(6):550-4. Epub 2010 Jan 27 doi: 10.1016/j.jpurol.2009.12.010. PMID: 20106723
Kim W, Rosen MA, Langer JE, Banner MP, Siegelman ES, Ramchandani P
Radiographics 2007 Sep-Oct;27(5):1239-53. doi: 10.1148/rg.275065172. PMID: 17848688
Mercer S
Can J Surg 1979 May;22(3):245-6. PMID: 35276
Nordmark L, Bjersing L, Domellöf L, Hjälmås K, Nyberg G
Acta Radiol Diagn (Stockh) 1977 Mar;18(2):167-76. doi: 10.1177/028418517701800204. PMID: 16439

Therapy

Grant DB, Dillon MJ
Arch Dis Child 1975 Mar;50(3):247-9. doi: 10.1136/adc.50.3.247. PMID: 1147662Free PMC Article

Prognosis

Favorito LA, Klojda CA, Sampaio FJ
Int J Urol 2004 Dec;11(12):1110-3. doi: 10.1111/j.1442-2042.2004.00952.x. PMID: 15663684
Zhou Y, Zhang Y, He J
Int J Urol 2001 Nov;8(11):652-5. doi: 10.1046/j.1442-2042.2001.00383.x. PMID: 11903697
Merry C, Sweeney B, Puri P
Eur Urol 1997;31(1):65-7. doi: 10.1159/000474420. PMID: 9032537
Pommerville P, Futter NG, McKay DE, Desmarais R
Br J Urol 1982 Aug;54(4):408-10. doi: 10.1111/j.1464-410x.1982.tb08954.x. PMID: 6126241

Clinical prediction guides

Chauhan V, Jyotsna VP, Jain V, Khadgawat R, Dada R
Horm Metab Res 2017 Jan;49(1):36-42. Epub 2016 Oct 6 doi: 10.1055/s-0042-114778. PMID: 27711951
Papparella A, Romano M, Noviello C, Cobellis G, Nino F, Del Monaco C, Parmeggiani P
J Pediatr Urol 2010 Dec;6(6):550-4. Epub 2010 Jan 27 doi: 10.1016/j.jpurol.2009.12.010. PMID: 20106723
Bruce S, Hannula-Jouppi K, Peltonen J, Kere J, Lipsanen-Nyman M
J Clin Endocrinol Metab 2009 Feb;94(2):579-87. Epub 2008 Nov 18 doi: 10.1210/jc.2008-1805. PMID: 19017756
Pommerville P, Futter NG, McKay DE, Desmarais R
Br J Urol 1982 Aug;54(4):408-10. doi: 10.1111/j.1464-410x.1982.tb08954.x. PMID: 6126241

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