U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

SPERMATOGENIC FAILURE 96(SPGF96)

MedGen UID:
1055821
•Concept ID:
CN378688
•
Disease or Syndrome
Synonym: SPGF96
 
Gene (location): SPATA22 (17p13.2)
 
OMIM®: 621001

Definition

Spermatogenic failure-96 (SPGF96) is an autosomal recessive disorder characterized by male infertility due to nonobstructive azoospermia. Spermatogenesis appears to be arrested at the zygotene stage, with reduced numbers of spermatocytes and no spermatids seen in testicular tissue (Yao et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

Professional guidelines

PubMed

Population study of causes, treatment, and outcome of infertility.
Hull MG, Glazener CM, Kelly NJ, Conway DI, Foster PA, Hinton RA, Coulson C, Lambert PA, Watt EM, Desai KM
Br Med J (Clin Res Ed) 1985 Dec 14;291(6510):1693-7. doi: 10.1136/bmj.291.6510.1693. PMID: 3935248Free PMC Article

Recent clinical studies

Etiology

Among seven testis-specific molecular markers, SPEM1 appears to have a significant clinical value for prediction of sperm retrieval in azoospermic men.
Hashemi MS, Mozdarani H, Ghaedi K, Nasr-Esfahani MH
Andrology 2018 Nov;6(6):890-895. Epub 2018 Jul 27 doi: 10.1111/andr.12528. PMID: 30054974
Evidence for the involvement of the proximal copy of the MAGEA9 gene in Xq28-linked CNV67 specific to spermatogenic failure.
Shen Y, Xu J, Yang X, Liu Y, Ma Y, Yang D, Dong Q, Yang Y
Biol Reprod 2017 Mar 1;96(3):610-616. doi: 10.1093/biolre/iox006. PMID: 28339631
Association of polymorphisms of A260G and A386G in DAZL gene with male infertility: a meta-analysis and systemic review.
Chen P, Wang X, Xu C, Xiao H, Zhang WH, Wang XH, Zhang XH
Asian J Androl 2016 Jan-Feb;18(1):96-101. doi: 10.4103/1008-682X.153542. PMID: 25994644Free PMC Article
Seminal plasma microRNAs: potential biomarkers for spermatogenesis status.
Wu W, Hu Z, Qin Y, Dong J, Dai J, Lu C, Zhang W, Shen H, Xia Y, Wang X
Mol Hum Reprod 2012 Oct;18(10):489-97. Epub 2012 Jun 6 doi: 10.1093/molehr/gas022. PMID: 22675043
Population study of causes, treatment, and outcome of infertility.
Hull MG, Glazener CM, Kelly NJ, Conway DI, Foster PA, Hinton RA, Coulson C, Lambert PA, Watt EM, Desai KM
Br Med J (Clin Res Ed) 1985 Dec 14;291(6510):1693-7. doi: 10.1136/bmj.291.6510.1693. PMID: 3935248Free PMC Article

Diagnosis

Among seven testis-specific molecular markers, SPEM1 appears to have a significant clinical value for prediction of sperm retrieval in azoospermic men.
Hashemi MS, Mozdarani H, Ghaedi K, Nasr-Esfahani MH
Andrology 2018 Nov;6(6):890-895. Epub 2018 Jul 27 doi: 10.1111/andr.12528. PMID: 30054974
Evidence for the involvement of the proximal copy of the MAGEA9 gene in Xq28-linked CNV67 specific to spermatogenic failure.
Shen Y, Xu J, Yang X, Liu Y, Ma Y, Yang D, Dong Q, Yang Y
Biol Reprod 2017 Mar 1;96(3):610-616. doi: 10.1093/biolre/iox006. PMID: 28339631
Sperm DNA fragmentation levels in testicular sperm samples from azoospermic males as assessed by the sperm chromatin dispersion (SCD) test.
Meseguer M, Santiso R, Garrido N, Gil-Salom M, Remohí J, Fernandez JL
Fertil Steril 2009 Nov;92(5):1638-45. Epub 2008 Nov 11 doi: 10.1016/j.fertnstert.2008.08.106. PMID: 19006791

Prognosis

Among seven testis-specific molecular markers, SPEM1 appears to have a significant clinical value for prediction of sperm retrieval in azoospermic men.
Hashemi MS, Mozdarani H, Ghaedi K, Nasr-Esfahani MH
Andrology 2018 Nov;6(6):890-895. Epub 2018 Jul 27 doi: 10.1111/andr.12528. PMID: 30054974
Sperm DNA fragmentation levels in testicular sperm samples from azoospermic males as assessed by the sperm chromatin dispersion (SCD) test.
Meseguer M, Santiso R, Garrido N, Gil-Salom M, Remohí J, Fernandez JL
Fertil Steril 2009 Nov;92(5):1638-45. Epub 2008 Nov 11 doi: 10.1016/j.fertnstert.2008.08.106. PMID: 19006791
Population study of causes, treatment, and outcome of infertility.
Hull MG, Glazener CM, Kelly NJ, Conway DI, Foster PA, Hinton RA, Coulson C, Lambert PA, Watt EM, Desai KM
Br Med J (Clin Res Ed) 1985 Dec 14;291(6510):1693-7. doi: 10.1136/bmj.291.6510.1693. PMID: 3935248Free PMC Article

Clinical prediction guides

Among seven testis-specific molecular markers, SPEM1 appears to have a significant clinical value for prediction of sperm retrieval in azoospermic men.
Hashemi MS, Mozdarani H, Ghaedi K, Nasr-Esfahani MH
Andrology 2018 Nov;6(6):890-895. Epub 2018 Jul 27 doi: 10.1111/andr.12528. PMID: 30054974
Sperm DNA fragmentation levels in testicular sperm samples from azoospermic males as assessed by the sperm chromatin dispersion (SCD) test.
Meseguer M, Santiso R, Garrido N, Gil-Salom M, Remohí J, Fernandez JL
Fertil Steril 2009 Nov;92(5):1638-45. Epub 2008 Nov 11 doi: 10.1016/j.fertnstert.2008.08.106. PMID: 19006791
Testicular expression of survivin and human telomerase reverse transcriptase (hTERT) associated with spermatogenic function in infertile patients.
Weikert S, Christoph F, Schulze W, Krause H, Kempkensteffen C, Schostak M, Miller K, Schrader M
Asian J Androl 2006 Jan;8(1):95-100. doi: 10.1111/j.1745-7262.2006.00102.x. PMID: 16372125
Does the gonadotrophic axis play a role in the pathogenesis of Sertoli-cell-only syndrome?
Leifke E, Simoni M, Kamischke A, Gromoll J, Bergmann M, Nieschlag E
Int J Androl 1997 Feb;20(1):29-36. doi: 10.1046/j.1365-2605.1997.00102.x. PMID: 9202988

Recent systematic reviews

Association of polymorphisms of A260G and A386G in DAZL gene with male infertility: a meta-analysis and systemic review.
Chen P, Wang X, Xu C, Xiao H, Zhang WH, Wang XH, Zhang XH
Asian J Androl 2016 Jan-Feb;18(1):96-101. doi: 10.4103/1008-682X.153542. PMID: 25994644Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...