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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

Stahl PJ, Schlegel PN
Curr Opin Obstet Gynecol 2012 Aug;24(4):221-8. doi: 10.1097/GCO.0b013e3283558560. PMID: 22729088
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
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 clinical studies

Etiology

Dwyer AA, Stamou M, McDonald IR, Anghel E, Cox KH, Salnikov KB, Plummer L, Seminara SB, Balasubramanian R
Front Endocrinol (Lausanne) 2022;13:1054447. Epub 2022 Nov 2 doi: 10.3389/fendo.2022.1054447. PMID: 36407308Free PMC Article
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
Bhasin S
J Clin Endocrinol Metab 2007 Jun;92(6):1995-2004. doi: 10.1210/jc.2007-0634. PMID: 17554051
Silber SJ
Hum Reprod 1998 Apr;13 Suppl 1:208-18. doi: 10.1093/humrep/13.suppl_1.208. PMID: 9663785

Diagnosis

Laan M, Kasak L, Punab M
Br Med Bull 2021 Dec 16;140(1):5-22. doi: 10.1093/bmb/ldab025. PMID: 34755838Free 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
Poongothai J, Gopenath TS, Manonayaki S
Singapore Med J 2009 Apr;50(4):336-47. PMID: 19421675
Tournaye H
Minerva Urol Nefrol 2005 Jun;57(2):91-7. PMID: 15951733
Argente J
Horm Res 1999;51 Suppl 3:95-100. doi: 10.1159/000053168. PMID: 10592450

Therapy

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
Elsherbeny MS, Abdelhay S
J Pediatr Surg 2019 Nov;54(11):2413-2415. Epub 2019 Feb 23 doi: 10.1016/j.jpedsurg.2019.01.067. PMID: 30867099
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

Dwyer AA, Stamou M, McDonald IR, Anghel E, Cox KH, Salnikov KB, Plummer L, Seminara SB, Balasubramanian R
Front Endocrinol (Lausanne) 2022;13:1054447. Epub 2022 Nov 2 doi: 10.3389/fendo.2022.1054447. PMID: 36407308Free PMC Article
Elsherbeny MS, Abdelhay S
J Pediatr Surg 2019 Nov;54(11):2413-2415. Epub 2019 Feb 23 doi: 10.1016/j.jpedsurg.2019.01.067. PMID: 30867099
Wémeau JL, Proust-Lemoine E, Ryndak A, Vanhove L
Hormones (Athens) 2013 Jan-Mar;12(1):39-45. doi: 10.1007/BF03401285. PMID: 23624130
Fujieda K, Okuhara K, Abe S, Tajima T, Mukai T, Nakae J
J Steroid Biochem Mol Biol 2003 Jun;85(2-5):483-9. doi: 10.1016/s0960-0760(03)00232-2. PMID: 12943739
Walker BR, Skoog SJ, Winslow BH, Canning DA, Tank ES
J Urol 1997 Apr;157(4):1460-3. PMID: 9120982

Clinical prediction guides

Dwyer AA, Stamou M, McDonald IR, Anghel E, Cox KH, Salnikov KB, Plummer L, Seminara SB, Balasubramanian R
Front Endocrinol (Lausanne) 2022;13:1054447. Epub 2022 Nov 2 doi: 10.3389/fendo.2022.1054447. PMID: 36407308Free PMC Article
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
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
Weedin JW, Bennett RC, Fenig DM, Lamb DJ, Lipshultz LI
J Urol 2011 Aug;186(2):621-6. doi: 10.1016/j.juro.2011.03.156. PMID: 21684558Free PMC Article
Fujieda K, Okuhara K, Abe S, Tajima T, Mukai T, Nakae J
J Steroid Biochem Mol Biol 2003 Jun;85(2-5):483-9. doi: 10.1016/s0960-0760(03)00232-2. PMID: 12943739

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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