U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Spermatogenic failure 74(SPGF74)

MedGen UID:
1812069
•Concept ID:
C5677010
•
Disease or Syndrome
Synonym: SPGF74
 
Gene (location): MSH5 (6p21.33)
 
Monarch Initiative: MONDO:0030972
OMIM®: 619937

Definition

Spermatogenic failure-74 (SPGF74) is characterized by nonobstructive azoospermia and male infertility due to complete meiotic arrest at the spermatocyte zygotene or pachytene stage. Some men exhibit reduced testicular volume and/or reduced testosterone level (Wyrwoll et al., 2022). 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
Non-obstructive azoospermia
MedGen UID:
866757
•Concept ID:
C4021107
•
Disease or Syndrome
Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.
See: Feature record | Search on this feature
Spermatogenesis maturation arrest
MedGen UID:
1374029
•Concept ID:
C4477100
•
Finding
Maturation arrest (MA) is defined as germ cells that fail to complete maturation. Uniform MA is characterized by spermatogenic arrest at the same stage of spermatogenesis throughout the seminiferous tubules. MA is subcategorized into early MA, in which only spermatogonia or spermatocytes are found, and late MA, in which spermatids are detected without spermatozoa.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Locating potentially lethal genes using the abnormal distributions of genotypes.
Ding X, Zhu X
Sci Rep 2019 Jul 22;9(1):10543. doi: 10.1038/s41598-019-47076-w. PMID: 31332212Free PMC Article

Recent clinical studies

Etiology

Combined deletion of DAZ2 and DAZ4 copies of Y chromosome DAZ gene is associated with male infertility in Tunisian men.
Ghorbel M, Baklouti-Gargouri S, Keskes R, Chakroun N, Sellami A, Fakhfakh F, Ammar-Keskes L
Gene 2014 Sep 1;547(2):191-4. Epub 2014 May 28 doi: 10.1016/j.gene.2014.05.061. PMID: 24878370
DAZL polymorphisms and susceptibility to spermatogenic failure: an example of remarkable ethnic differences.
Becherini L, Guarducci E, Degl'Innocenti S, Rotondi M, Forti G, Krausz C
Int J Androl 2004 Dec;27(6):375-81. doi: 10.1111/j.1365-2605.2004.00520.x. PMID: 15595957

Diagnosis

AZF deletions in Indian populations: original study and meta-analyses.
Waseem AS, Singh V, Makker GC, Trivedi S, Mishra G, Singh K, Rajender S
J Assist Reprod Genet 2020 Feb;37(2):459-469. Epub 2020 Jan 9 doi: 10.1007/s10815-019-01661-0. PMID: 31919744Free PMC Article

Clinical prediction guides

AZF deletions in Indian populations: original study and meta-analyses.
Waseem AS, Singh V, Makker GC, Trivedi S, Mishra G, Singh K, Rajender S
J Assist Reprod Genet 2020 Feb;37(2):459-469. Epub 2020 Jan 9 doi: 10.1007/s10815-019-01661-0. PMID: 31919744Free 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
    • 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...