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Congenital Testicular Failure

MedGen UID:
1378969
Concept ID:
C4329684
Disease or Syndrome

Definition

Testicular failure, the cause of which is present at birth. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital Testicular Failure

Professional guidelines

PubMed

Song SH, Chiba K, Ramasamy R, Lamb DJ
Asian J Androl 2016 May-Jun;18(3):350-5. doi: 10.4103/1008-682X.178857. PMID: 27048782Free PMC Article
Stahl PJ, Schlegel PN
Curr Opin Obstet Gynecol 2012 Aug;24(4):221-8. doi: 10.1097/GCO.0b013e3283558560. PMID: 22729088
McLachlan RI, O'Bryan MK
J Clin Endocrinol Metab 2010 Mar;95(3):1013-24. Epub 2010 Jan 20 doi: 10.1210/jc.2009-1925. PMID: 20089613

Recent clinical studies

Etiology

Corona G, Rastrelli G, Dicuio M, Concetti S, Minnetti M, Pivonello R, Isidori A, Sforza A, Maggi M
Minerva Endocrinol (Torino) 2021 Sep;46(3):252-261. Epub 2020 Sep 24 doi: 10.23736/S2724-6507.20.03208-3. PMID: 32969626
Gurney JK, McGlynn KA, Stanley J, Merriman T, Signal V, Shaw C, Edwards R, Richiardi L, Hutson J, Sarfati D
Nat Rev Urol 2017 Sep;14(9):534-548. Epub 2017 Jun 27 doi: 10.1038/nrurol.2017.90. PMID: 28654092Free PMC Article
Song SH, Chiba K, Ramasamy R, Lamb DJ
Asian J Androl 2016 May-Jun;18(3):350-5. doi: 10.4103/1008-682X.178857. PMID: 27048782Free PMC Article
Wémeau JL, Proust-Lemoine E, Ryndak A, Vanhove L
Hormones (Athens) 2013 Jan-Mar;12(1):39-45. doi: 10.1007/BF03401285. PMID: 23624130
Agoulnik AI, Huang Z, Ferguson L
Methods Mol Biol 2012;825:127-47. doi: 10.1007/978-1-61779-436-0_11. PMID: 22144242

Diagnosis

Juchnewitsch AG, Pomm K, Dutta A, Tamp E, Valkna A, Lillepea K, Mahyari E, Tjagur S, Belova G, Kübarsepp V, Castillo-Madeen H, Riera-Escamilla A, Põlluaas L, Nagirnaja L, Poolamets O, Vihljajev V, Sütt M, Versbraegen N, Papadimitriou S, McLachlan RI, Jarvi KA, Schlegel PN, Tennisberg S, Korrovits P, Vigh-Conrad K, O'Bryan MK, Aston KI, Lenaerts T, Conrad DF, Kasak L, Punab M, Laan M
Front Endocrinol (Lausanne) 2024;15:1312357. Epub 2024 Apr 9 doi: 10.3389/fendo.2024.1312357. PMID: 38654924Free PMC Article
Cioppi F, Rosta V, Krausz C
Int J Mol Sci 2021 Mar 23;22(6) doi: 10.3390/ijms22063264. PMID: 33806855Free PMC Article
Thorup J, Cortes D
Sex Dev 2019;13(1):11-19. Epub 2019 Jan 26 doi: 10.1159/000496417. PMID: 30685766
Krausz C
Best Pract Res Clin Endocrinol Metab 2011 Apr;25(2):271-85. doi: 10.1016/j.beem.2010.08.006. PMID: 21397198
Argente J
Horm Res 1999;51 Suppl 3:95-100. doi: 10.1159/000053168. PMID: 10592450

Therapy

Gill P, Ata B, Arnanz A, Cimadomo D, Vaiarelli A, Fatemi HM, Ubaldi FM, Garcia-Velasco JA, Seli E
Hum Reprod 2024 May 2;39(5):974-980. doi: 10.1093/humrep/deae040. PMID: 38452358
Corona G, Rastrelli G, Dicuio M, Concetti S, Minnetti M, Pivonello R, Isidori A, Sforza A, Maggi M
Minerva Endocrinol (Torino) 2021 Sep;46(3):252-261. Epub 2020 Sep 24 doi: 10.23736/S2724-6507.20.03208-3. PMID: 32969626
Poongothai J, Gopenath TS, Manonayaki S
Singapore Med J 2009 Apr;50(4):336-47. PMID: 19421675
Twisk M, Mastenbroek S, van Wely M, Heineman MJ, Van der Veen F, Repping S
Cochrane Database Syst Rev 2006 Jan 25;(1):CD005291. doi: 10.1002/14651858.CD005291.pub2. PMID: 16437524
Ferlin A, Simonato M, Bartoloni L, Rizzo G, Bettella A, Dottorini T, Dallapiccola B, Foresta C
J Clin Endocrinol Metab 2003 Sep;88(9):4273-9. doi: 10.1210/jc.2003-030359. PMID: 12970298

Prognosis

Kasak L, Laan M
Hum Genet 2021 Jan;140(1):135-154. Epub 2020 Jan 18 doi: 10.1007/s00439-020-02112-y. PMID: 31955275
Zheng W, Zou Z, Lin S, Chen X, Wang F, Li X, Dai J
J Cell Biochem 2019 Mar;120(3):3934-3944. Epub 2018 Sep 30 doi: 10.1002/jcb.27677. PMID: 30269365
Wémeau JL, Proust-Lemoine E, Ryndak A, Vanhove L
Hormones (Athens) 2013 Jan-Mar;12(1):39-45. doi: 10.1007/BF03401285. PMID: 23624130
Stahl PJ, Schlegel PN
Curr Opin Obstet Gynecol 2012 Aug;24(4):221-8. doi: 10.1097/GCO.0b013e3283558560. PMID: 22729088
Anniballo R, Ubaldi F, Cobellis L, Sorrentino M, Rienzi L, Greco E, Tesarik J
Hum Reprod 2000 Nov;15(11):2269-77. doi: 10.1093/humrep/15.11.2269. PMID: 11056118

Clinical prediction guides

Kasak L, Laan M
Hum Genet 2021 Jan;140(1):135-154. Epub 2020 Jan 18 doi: 10.1007/s00439-020-02112-y. PMID: 31955275
Gurney JK, McGlynn KA, Stanley J, Merriman T, Signal V, Shaw C, Edwards R, Richiardi L, Hutson J, Sarfati D
Nat Rev Urol 2017 Sep;14(9):534-548. Epub 2017 Jun 27 doi: 10.1038/nrurol.2017.90. PMID: 28654092Free PMC Article
Wémeau JL, Proust-Lemoine E, Ryndak A, Vanhove L
Hormones (Athens) 2013 Jan-Mar;12(1):39-45. doi: 10.1007/BF03401285. PMID: 23624130
Lardone MC, Parada-Bustamante A, Ebensperger M, Valdevenito R, Kakarieka E, Martínez D, Pommer R, Piottante A, Castro A
Mol Hum Reprod 2011 Dec;17(12):739-46. Epub 2011 Jul 20 doi: 10.1093/molehr/gar051. PMID: 21775412
Anniballo R, Ubaldi F, Cobellis L, Sorrentino M, Rienzi L, Greco E, Tesarik J
Hum Reprod 2000 Nov;15(11):2269-77. doi: 10.1093/humrep/15.11.2269. PMID: 11056118

Recent systematic reviews

Twisk M, Mastenbroek S, van Wely M, Heineman MJ, Van der Veen F, Repping S
Cochrane Database Syst Rev 2006 Jan 25;(1):CD005291. doi: 10.1002/14651858.CD005291.pub2. PMID: 16437524

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