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Spermatogenic failure 89(SPGF89)

MedGen UID:
1852501
•Concept ID:
C5882752
•
Disease or Syndrome
Synonym: SPGF89
 
Gene (location): AK9 (6q21)
 
Monarch Initiative: MONDO:0958206
OMIM®: 620705

Definition

Spermatogenic failure-89 (SPGF89) is characterized by male infertility due to severely reduced progressive motility of sperm (Sha et al., 2023). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

Recent clinical studies

Etiology

Association of MSY haplotype background with nonobstructive azoospermia is AZF-dependent: A case-control study.
Seyedin A, Kazeroun MH, Namipashaki A, Qobadi-Nasr S, Zamanian M, Ansari-Pour N
Andrologia 2021 Mar;53(2):e13946. Epub 2021 Jan 1 doi: 10.1111/and.13946. PMID: 33386637
Detection of chlamydia infection within human testicular biopsies.
Bryan ER, McLachlan RI, Rombauts L, Katz DJ, Yazdani A, Bogoevski K, Chang C, Giles ML, Carey AJ, Armitage CW, Trim LK, McLaughlin EA, Beagley KW
Hum Reprod 2019 Oct 2;34(10):1891-1898. doi: 10.1093/humrep/dez169. PMID: 31586185Free 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
Quantitative histological analysis and ultrastructure of the aging human testis.
Jiang H, Zhu WJ, Li J, Chen QJ, Liang WB, Gu YQ
Int Urol Nephrol 2014 May;46(5):879-85. Epub 2013 Nov 26 doi: 10.1007/s11255-013-0610-0. PMID: 24277275
Copy number variants in patients with severe oligozoospermia and Sertoli-cell-only syndrome.
Tüttelmann F, Simoni M, Kliesch S, Ledig S, Dworniczak B, Wieacker P, Röpke A
PLoS One 2011 Apr 29;6(4):e19426. doi: 10.1371/journal.pone.0019426. PMID: 21559371Free PMC Article

Diagnosis

Detection of chlamydia infection within human testicular biopsies.
Bryan ER, McLachlan RI, Rombauts L, Katz DJ, Yazdani A, Bogoevski K, Chang C, Giles ML, Carey AJ, Armitage CW, Trim LK, McLaughlin EA, Beagley KW
Hum Reprod 2019 Oct 2;34(10):1891-1898. doi: 10.1093/humrep/dez169. PMID: 31586185Free PMC Article
Testis-Specific Y-Centric Protein-Protein Interaction Network Provides Clues to the Etiology of Severe Spermatogenic Failure.
Ansari-Pour N, Razaghi-Moghadam Z, Barneh F, Jafari M
J Proteome Res 2016 Mar 4;15(3):1011-22. Epub 2016 Feb 4 doi: 10.1021/acs.jproteome.5b01080. PMID: 26794825

Clinical prediction guides

Association of MSY haplotype background with nonobstructive azoospermia is AZF-dependent: A case-control study.
Seyedin A, Kazeroun MH, Namipashaki A, Qobadi-Nasr S, Zamanian M, Ansari-Pour N
Andrologia 2021 Mar;53(2):e13946. Epub 2021 Jan 1 doi: 10.1111/and.13946. PMID: 33386637
Testis-Specific Y-Centric Protein-Protein Interaction Network Provides Clues to the Etiology of Severe Spermatogenic Failure.
Ansari-Pour N, Razaghi-Moghadam Z, Barneh F, Jafari M
J Proteome Res 2016 Mar 4;15(3):1011-22. Epub 2016 Feb 4 doi: 10.1021/acs.jproteome.5b01080. PMID: 26794825
Association of meiotic arrest with lack of BOULE protein expression in infertile men.
Luetjens CM, Xu EY, Rejo Pera RA, Kamischke A, Nieschlag E, Gromoll J
J Clin Endocrinol Metab 2004 Apr;89(4):1926-33. doi: 10.1210/jc.2003-031178. PMID: 15070965

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