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Spermatogenic failure 23(SPGF23)

MedGen UID:
1626589
•Concept ID:
C4540185
•
Disease or Syndrome
Synonyms: SPERMATOGENIC FAILURE 23; SPGF23
 
Gene (location): TEX14 (17q22)
 
Monarch Initiative: MONDO:0054727
OMIM®: 617707

Clinical features

From HPO
Azoospermia
MedGen UID:
2150
•Concept ID:
C0004509
•
Disease or Syndrome
Absence of any measurable level of sperm in his semen.
See: Feature record | Search on this feature
Infertility
MedGen UID:
43876
•Concept ID:
C0021359
•
Finding
Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues.
See: Feature record | Search on this feature

Professional guidelines

PubMed

In-vitro fertilization treatment for severe male factor: the fertilization potential of immotile spermatozoa obtained by testicular extraction.
Shulman A, Feldman B, Madgar I, Levron J, Mashiach S, Dor J
Hum Reprod 1999 Mar;14(3):749-52. doi: 10.1093/humrep/14.3.749. PMID: 10221708

Recent clinical studies

Etiology

Microdeletions and microduplications linked to severe congenital disorders in infertile men.
Kikas T, Punab AM, Kasak L, Poolamets O, Vihljajev V, Pomm K, Reiman M, Tjagur S, Korrovits P, Punab M, Laan M
Sci Rep 2023 Jan 11;13(1):574. doi: 10.1038/s41598-023-27750-w. PMID: 36631630Free PMC Article
Testicular steroid sulfatase overexpression is associated with Leydig cell dysfunction in primary spermatogenic failure.
Lardone MC, Reyes IN, Ortiz E, Piottante A, Palma C, Ebensperger M, Castro A
Andrology 2021 Mar;9(2):657-664. Epub 2020 Dec 30 doi: 10.1111/andr.12950. PMID: 33290605
A systematic review and standardized clinical validity assessment of male infertility genes.
Oud MS, Volozonoka L, Smits RM, Vissers LELM, Ramos L, Veltman JA
Hum Reprod 2019 May 1;34(5):932-941. doi: 10.1093/humrep/dez022. PMID: 30865283Free PMC Article
Combined proteomic and miRNome analyses of mouse testis exposed to an endocrine disruptors chemicals mixture reveals altered toxicological pathways involved in male infertility.
Buñay J, Larriba E, Patiño-Garcia D, Urriola-Muñoz P, Moreno RD, Del Mazo J
Mol Hum Reprod 2019 Mar 1;25(3):156-169. doi: 10.1093/molehr/gaz003. PMID: 30698749
Androgen receptor gene CAG and GGN repeat polymorphisms in Chilean men with primary severe spermatogenic failure.
Castro-Nallar E, Bacallao K, Parada-Bustamante A, Lardone MC, López PV, Madariaga M, Valdevenito R, Piottante A, Ebensperger M, Castro A
J Androl 2010 Nov-Dec;31(6):552-9. Epub 2010 Apr 8 doi: 10.2164/jandrol.109.008821. PMID: 20378930

Diagnosis

Y chromosome structural variation in infertile men detected by targeted next-generation sequencing.
Liu X, Zhang H, Zhang X, Zhang H, Jiang Y, Liu R, Fei J, Wang Y, Yu Y
J Assist Reprod Genet 2021 Apr;38(4):941-948. Epub 2021 Jan 16 doi: 10.1007/s10815-020-02031-x. PMID: 33454900Free PMC Article
Next-generation sequencing: toward an increase in the diagnostic yield in patients with apparently idiopathic spermatogenic failure.
Cannarella R, Condorelli RA, Paolacci S, Barbagallo F, Guerri G, Bertelli M, La Vignera S, Calogero AE
Asian J Androl 2021 Jan-Feb;23(1):24-29. doi: 10.4103/aja.aja_25_20. PMID: 32655042Free PMC Article
A systematic review and standardized clinical validity assessment of male infertility genes.
Oud MS, Volozonoka L, Smits RM, Vissers LELM, Ramos L, Veltman JA
Hum Reprod 2019 May 1;34(5):932-941. doi: 10.1093/humrep/dez022. PMID: 30865283Free PMC Article
Pseudoautosomal abnormalities in terminal AZFb+c deletions are associated with isochromosomes Yp and may lead to abnormal growth and neuropsychiatric function.
Castro A, Rodríguez F, Flórez M, López P, Curotto B, Martínez D, Maturana A, Lardone MC, Palma C, Mericq V, Ebensperger M, Cassorla F
Hum Reprod 2017 Feb;32(2):465-475. Epub 2017 Jan 5 doi: 10.1093/humrep/dew333. PMID: 28057878
Serum levels of inhibin B in men with different causes of spermatogenic failure.
Bohring C, Krause W
Andrologia 1999 May;31(3):137-41. PMID: 10363117

Therapy

Primary male infertility in Kuwait: a cytogenetic and molecular study of 289 infertile Kuwaiti patients.
Mohammed F, Al-Yatama F, Al-Bader M, Tayel SM, Gouda S, Naguib KK
Andrologia 2007 Jun;39(3):87-92. doi: 10.1111/j.1439-0272.2007.00769.x. PMID: 17683468
Varicocele repair improves semen parameters in azoospermic men with spermatogenic failure.
Kim ED, Leibman BB, Grinblat DM, Lipshultz LI
J Urol 1999 Sep;162(3 Pt 1):737-40. doi: 10.1097/00005392-199909010-00031. PMID: 10458356

Prognosis

Decrease in semen quality and Leydig cell function in infertile men: a longitudinal study.
Olesen IA, Joensen UN, Petersen JH, Almstrup K, Rajpert-De Meyts E, Carlsen E, McLachlan R, Juul A, Jørgensen N
Hum Reprod 2018 Nov 1;33(11):1963-1974. doi: 10.1093/humrep/dey283. PMID: 30247578
Association of three isoforms of the meiotic BOULE gene with spermatogenic failure in infertile men.
Kostova E, Yeung CH, Luetjens CM, Brune M, Nieschlag E, Gromoll J
Mol Hum Reprod 2007 Feb;13(2):85-93. Epub 2006 Nov 17 doi: 10.1093/molehr/gal101. PMID: 17114206
Varicocele repair improves semen parameters in azoospermic men with spermatogenic failure.
Kim ED, Leibman BB, Grinblat DM, Lipshultz LI
J Urol 1999 Sep;162(3 Pt 1):737-40. doi: 10.1097/00005392-199909010-00031. PMID: 10458356
Serum levels of inhibin B in men with different causes of spermatogenic failure.
Bohring C, Krause W
Andrologia 1999 May;31(3):137-41. PMID: 10363117

Clinical prediction guides

Microdeletions and microduplications linked to severe congenital disorders in infertile men.
Kikas T, Punab AM, Kasak L, Poolamets O, Vihljajev V, Pomm K, Reiman M, Tjagur S, Korrovits P, Punab M, Laan M
Sci Rep 2023 Jan 11;13(1):574. doi: 10.1038/s41598-023-27750-w. PMID: 36631630Free PMC Article
Testicular steroid sulfatase overexpression is associated with Leydig cell dysfunction in primary spermatogenic failure.
Lardone MC, Reyes IN, Ortiz E, Piottante A, Palma C, Ebensperger M, Castro A
Andrology 2021 Mar;9(2):657-664. Epub 2020 Dec 30 doi: 10.1111/andr.12950. PMID: 33290605
Overexpression of CYP19A1 aromatase in Leydig cells is associated with steroidogenic dysfunction in subjects with Sertoli cell-only syndrome.
Lardone MC, Argandoña F, Flórez M, Parada-Bustamante A, Ebensperger M, Palma C, Piottante A, Castro A
Andrology 2017 Jan;5(1):41-48. Epub 2016 Oct 21 doi: 10.1111/andr.12289. PMID: 27769104
Greater prevalence of Y chromosome Q1a3a haplogroup in Y-microdeleted Chilean men: a case-control study.
Lardone MC, Marengo A, Parada-Bustamante A, Cifuentes L, Piottante A, Ebensperger M, Valdevenito R, Castro A
J Assist Reprod Genet 2013 Apr;30(4):531-8. Epub 2013 Feb 8 doi: 10.1007/s10815-013-9950-z. PMID: 23388839Free PMC Article
Androgen receptor gene CAG and GGN repeat polymorphisms in Chilean men with primary severe spermatogenic failure.
Castro-Nallar E, Bacallao K, Parada-Bustamante A, Lardone MC, López PV, Madariaga M, Valdevenito R, Piottante A, Ebensperger M, Castro A
J Androl 2010 Nov-Dec;31(6):552-9. Epub 2010 Apr 8 doi: 10.2164/jandrol.109.008821. PMID: 20378930

Recent systematic reviews

A systematic review and standardized clinical validity assessment of male infertility genes.
Oud MS, Volozonoka L, Smits RM, Vissers LELM, Ramos L, Veltman JA
Hum Reprod 2019 May 1;34(5):932-941. doi: 10.1093/humrep/dez022. PMID: 30865283Free PMC Article

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