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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

Recent advances in the genetics of testicular failure.
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
Genetic evaluation of the azoospermic or severely oligozoospermic male.
Stahl PJ, Schlegel PN
Curr Opin Obstet Gynecol 2012 Aug;24(4):221-8. doi: 10.1097/GCO.0b013e3283558560. PMID: 22729088
Clinical Review#: State of the art for genetic testing of infertile men.
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

Subclinical male hypogonadism.
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
Risk factors for cryptorchidism.
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
Recent advances in the genetics of testicular failure.
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
Thyroid autoimmunity and polyglandular endocrine syndromes.
Wémeau JL, Proust-Lemoine E, Ryndak A, Vanhove L
Hormones (Athens) 2013 Jan-Mar;12(1):39-45. doi: 10.1007/BF03401285. PMID: 23624130
Spermatogenesis in cryptorchidism.
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

Genetics of Azoospermia.
Cioppi F, Rosta V, Krausz C
Int J Mol Sci 2021 Mar 23;22(6) doi: 10.3390/ijms22063264. PMID: 33806855Free PMC Article
Surgical Management of Undescended Testis - Timetable and Outcome: A Debate.
Thorup J, Cortes D
Sex Dev 2019;13(1):11-19. Epub 2019 Jan 26 doi: 10.1159/000496417. PMID: 30685766
Male infertility: pathogenesis and clinical diagnosis.
Krausz C
Best Pract Res Clin Endocrinol Metab 2011 Apr;25(2):271-85. doi: 10.1016/j.beem.2010.08.006. PMID: 21397198
Clinical Review#: State of the art for genetic testing of infertile men.
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
Diagnosis of late puberty.
Argente J
Horm Res 1999;51 Suppl 3:95-100. doi: 10.1159/000053168. PMID: 10592450

Therapy

Subclinical male hypogonadism.
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
Genetics of human male infertility.
Poongothai J, Gopenath TS, Manonayaki S
Singapore Med J 2009 Apr;50(4):336-47. PMID: 19421675
Unilateral testicular tumour associated to congenital adrenal hyperplasia: Failure of specific tumoral molecular markers to discriminate between adrenal rest and leydigioma.
Fenichel P, Bstandig B, Roger C, Chevallier D, Michels JF, Sadoul JL, Hieronimus S, Brucker-Davis F
Ann Endocrinol (Paris) 2008 Nov;69(5):453-8. Epub 2008 Jul 11 doi: 10.1016/j.ando.2008.05.002. PMID: 18620332
Preimplantation genetic screening for abnormal number of chromosomes (aneuploidies) in in vitro fertilisation or intracytoplasmic sperm injection.
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
Clinical review 87: In vitro fertilization for male factor infertility.
Schlegel PN, Girardi SK
J Clin Endocrinol Metab 1997 Mar;82(3):709-16. doi: 10.1210/jcem.82.3.3785. PMID: 9062469

Prognosis

Monogenic causes of non-obstructive azoospermia: challenges, established knowledge, limitations and perspectives.
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
Identification and functional analysis of spermatogenesis-associated gene modules in azoospermia by weighted gene coexpression network analysis.
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
Thyroid autoimmunity and polyglandular endocrine syndromes.
Wémeau JL, Proust-Lemoine E, Ryndak A, Vanhove L
Hormones (Athens) 2013 Jan-Mar;12(1):39-45. doi: 10.1007/BF03401285. PMID: 23624130
Genetic evaluation of the azoospermic or severely oligozoospermic male.
Stahl PJ, Schlegel PN
Curr Opin Obstet Gynecol 2012 Aug;24(4):221-8. doi: 10.1097/GCO.0b013e3283558560. PMID: 22729088
Criteria predicting the absence of spermatozoa in the Sertoli cell-only syndrome can be used to improve success rates of sperm retrieval.
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

Reversible hypogonadotropic hypogonadism in men with the fertile eunuch/Pasqualini syndrome: A single-center natural history study.
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
Monogenic causes of non-obstructive azoospermia: challenges, established knowledge, limitations and perspectives.
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
Risk factors for cryptorchidism.
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
Thyroid autoimmunity and polyglandular endocrine syndromes.
Wémeau JL, Proust-Lemoine E, Ryndak A, Vanhove L
Hormones (Athens) 2013 Jan-Mar;12(1):39-45. doi: 10.1007/BF03401285. PMID: 23624130
Criteria predicting the absence of spermatozoa in the Sertoli cell-only syndrome can be used to improve success rates of sperm retrieval.
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

Preimplantation genetic screening for abnormal number of chromosomes (aneuploidies) in in vitro fertilisation or intracytoplasmic sperm injection.
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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