U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Spermatogenic failure 64(SPGF64)

MedGen UID:
1794272
•Concept ID:
C5562062
•
Disease or Syndrome
Synonyms: SPERMATOGENIC FAILURE 64; SPGF64
 
Gene (location): FBXO43 (8q22.2)
 
Monarch Initiative: MONDO:0030522
OMIM®: 619696

Definition

Spermatogenic failure-64 (SPGF64) is characterized by male infertility due to oligoasthenoteratozoospermia or nonobstructive azoospermia. Some patients have absent sperm due to meiotic arrest at the diplotene stage, whereas others show low sperm counts and reduced progressive motility, and spermatozoa have enlarged amorphous heads (Ma et al., 2019; Wu et al., 2022). Mutation in the FBXO43 gene can also cause female infertility due to early embryonic arrest (see OOMD12, 619697). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

Clinical features

From HPO
Male infertility
MedGen UID:
5796
•Concept ID:
C0021364
•
Disease or Syndrome
The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility.
See: Feature record | Search on this feature
Oligozoospermia
MedGen UID:
678638
•Concept ID:
C0868910
•
Finding
Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen.
See: Feature record | Search on this feature
Abnormal sperm head morphology
MedGen UID:
868308
•Concept ID:
C4022702
•
Finding
A structural abnormality of the sperm head.
See: Feature record | Search on this feature
Reduced progressive sperm motility
MedGen UID:
1730031
•Concept ID:
C5436680
•
Finding
A reduced proportion of sperm that move in a straight line or large circles; alternatively, an increased proportion of sperm that move in tight circles or in some other non-linear fashion.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Toward clinical exomes in diagnostics and management of male infertility.
Lillepea K, Juchnewitsch AG, Kasak L, Valkna A, Dutta A, Pomm K, Poolamets O, Nagirnaja L, Tamp E, Mahyari E, Vihljajev V, Tjagur S, Papadimitriou S, Riera-Escamilla A, Versbraegen N, Farnetani G, Castillo-Madeen H, Sütt M, Kübarsepp V, Tennisberg S, Korrovits P, Krausz C, Aston KI, Lenaerts T, Conrad DF, Punab M, Laan M
Am J Hum Genet 2024 May 2;111(5):877-895. Epub 2024 Apr 12 doi: 10.1016/j.ajhg.2024.03.013. PMID: 38614076Free PMC Article

Recent clinical studies

Etiology

Toward clinical exomes in diagnostics and management of male infertility.
Lillepea K, Juchnewitsch AG, Kasak L, Valkna A, Dutta A, Pomm K, Poolamets O, Nagirnaja L, Tamp E, Mahyari E, Vihljajev V, Tjagur S, Papadimitriou S, Riera-Escamilla A, Versbraegen N, Farnetani G, Castillo-Madeen H, Sütt M, Kübarsepp V, Tennisberg S, Korrovits P, Krausz C, Aston KI, Lenaerts T, Conrad DF, Punab M, Laan M
Am J Hum Genet 2024 May 2;111(5):877-895. Epub 2024 Apr 12 doi: 10.1016/j.ajhg.2024.03.013. PMID: 38614076Free PMC Article
Primary azoospermia factor C duplication associated with spermatogenic impariment: a case-control study based on Y-chromosome haplogrouping in a Han Chinese population.
Xie S, Ma Y, Liu Y, Tao D, Wang Z, Yang Y
Andrology 2024 Mar;12(3):561-569. Epub 2023 Aug 18 doi: 10.1111/andr.13510. PMID: 37594248
DAZ duplications confer the predisposition of Y chromosome haplogroup K* to non-obstructive azoospermia in Han Chinese populations.
Lu C, Wang Y, Zhang F, Lu F, Xu M, Qin Y, Wu W, Li S, Song L, Yang S, Wu D, Jin L, Shen H, Sha J, Xia Y, Hu Z, Wang X
Hum Reprod 2013 Sep;28(9):2440-9. Epub 2013 May 21 doi: 10.1093/humrep/det234. PMID: 23696539
Deregulation of EZH2 expression in human spermatogenic disorders and testicular germ cell tumors.
Hinz S, Magheli A, Weikert S, Schulze W, Krause H, Schrader M, Miller K, Kempkensteffen C
World J Urol 2010 Oct;28(5):631-5. Epub 2009 Dec 31 doi: 10.1007/s00345-009-0498-6. PMID: 20043168
High frequency of gr/gr chromosome Y deletions in consecutive oligospermic ICSI candidates.
de Llanos M, Ballescà JL, Gázquez C, Margarit E, Oliva R
Hum Reprod 2005 Jan;20(1):216-20. Epub 2004 Oct 28 doi: 10.1093/humrep/deh582. PMID: 15513974

Diagnosis

Toward clinical exomes in diagnostics and management of male infertility.
Lillepea K, Juchnewitsch AG, Kasak L, Valkna A, Dutta A, Pomm K, Poolamets O, Nagirnaja L, Tamp E, Mahyari E, Vihljajev V, Tjagur S, Papadimitriou S, Riera-Escamilla A, Versbraegen N, Farnetani G, Castillo-Madeen H, Sütt M, Kübarsepp V, Tennisberg S, Korrovits P, Krausz C, Aston KI, Lenaerts T, Conrad DF, Punab M, Laan M
Am J Hum Genet 2024 May 2;111(5):877-895. Epub 2024 Apr 12 doi: 10.1016/j.ajhg.2024.03.013. PMID: 38614076Free PMC Article
Organizational and functional status of the Y-linked genes and loci in the infertile patients having normal spermiogram.
Kumari A, Yadav SK, Ali S
PLoS One 2012;7(7):e41488. Epub 2012 Jul 23 doi: 10.1371/journal.pone.0041488. PMID: 22844483Free PMC Article
Loss of the AZFc region due to a human Y-chromosome microdeletion in infertile male patients.
Pandey LK, Pandey S, Gupta J, Saxena AK
Genet Mol Res 2010 Jun 29;9(2):1267-73. doi: 10.4238/vol9-2gmr836. PMID: 20603812
Male gamete empowerment.
Takeuchi T, Neri QV, Palermo GD
Ann N Y Acad Sci 2008 Apr;1127:64-6. doi: 10.1196/annals.1434.016. PMID: 18443331

Therapy

Haplotype analysis of the estrogen receptor 1 gene in male genital and reproductive abnormalities.
Watanabe M, Yoshida R, Ueoka K, Aoki K, Sasagawa I, Hasegawa T, Sueoka K, Kamatani N, Yoshimura Y, Ogata T
Hum Reprod 2007 May;22(5):1279-84. Epub 2007 Feb 5 doi: 10.1093/humrep/del513. PMID: 17283037

Prognosis

High frequency of gr/gr chromosome Y deletions in consecutive oligospermic ICSI candidates.
de Llanos M, Ballescà JL, Gázquez C, Margarit E, Oliva R
Hum Reprod 2005 Jan;20(1):216-20. Epub 2004 Oct 28 doi: 10.1093/humrep/deh582. PMID: 15513974

Clinical prediction guides

Toward clinical exomes in diagnostics and management of male infertility.
Lillepea K, Juchnewitsch AG, Kasak L, Valkna A, Dutta A, Pomm K, Poolamets O, Nagirnaja L, Tamp E, Mahyari E, Vihljajev V, Tjagur S, Papadimitriou S, Riera-Escamilla A, Versbraegen N, Farnetani G, Castillo-Madeen H, Sütt M, Kübarsepp V, Tennisberg S, Korrovits P, Krausz C, Aston KI, Lenaerts T, Conrad DF, Punab M, Laan M
Am J Hum Genet 2024 May 2;111(5):877-895. Epub 2024 Apr 12 doi: 10.1016/j.ajhg.2024.03.013. PMID: 38614076Free PMC Article
Primary azoospermia factor C duplication associated with spermatogenic impariment: a case-control study based on Y-chromosome haplogrouping in a Han Chinese population.
Xie S, Ma Y, Liu Y, Tao D, Wang Z, Yang Y
Andrology 2024 Mar;12(3):561-569. Epub 2023 Aug 18 doi: 10.1111/andr.13510. PMID: 37594248
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
Organizational and functional status of the Y-linked genes and loci in the infertile patients having normal spermiogram.
Kumari A, Yadav SK, Ali S
PLoS One 2012;7(7):e41488. Epub 2012 Jul 23 doi: 10.1371/journal.pone.0041488. PMID: 22844483Free PMC Article
Loss of the AZFc region due to a human Y-chromosome microdeletion in infertile male patients.
Pandey LK, Pandey S, Gupta J, Saxena AK
Genet Mol Res 2010 Jun 29;9(2):1267-73. doi: 10.4238/vol9-2gmr836. PMID: 20603812

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
    • PubMed (OMIM)
      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...