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Spermatogenic failure 38(SPGF38)

MedGen UID:
1680356
•Concept ID:
C5193095
•
Disease or Syndrome
Synonyms: SPERMATOGENIC FAILURE 38; SPGF38
 
Gene (location): ARMC2 (6q21)
 
Monarch Initiative: MONDO:0032748
OMIM®: 618433

Definition

Spermatogenic failure-38 (SPGF38) is characterized by primary infertility and asthenoteratozoospermia due to multiple morphologic abnormalities of the flagella (MMAF). Spermatozoa show total sperm motility below 10% and exhibit morphologic anomalies including short, absent, coiled, bent, or irregular-caliber flagella (Coutton et al., 2019). For a 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
Tapered sperm head
MedGen UID:
1635505
•Concept ID:
C2208973
•
Finding
Sperm with cigar-shaped heads that gradually dimish in diameter (taper).
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 sperm motility
MedGen UID:
907698
•Concept ID:
C4082176
•
Finding
An abnormal reduction in the mobility of ejaculated sperm.
See: Feature record | Search on this feature
Absent sperm flagella
MedGen UID:
1623855
•Concept ID:
C4539786
•
Finding
Sperm cells lacking flagella.
See: Feature record | Search on this feature
Coiled sperm flagella
MedGen UID:
1611216
•Concept ID:
C4539789
•
Finding
Sperm cells whose flagella are twisted (coiled).
See: Feature record | Search on this feature
Abnormal axonemal organization of respiratory motile cilia
MedGen UID:
868588
•Concept ID:
C4022987
•
Anatomical Abnormality
Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9+2 microtubular pattern of motile cilia studded with dynein arms.
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Recent clinical studies

Etiology

The impact of vincristine on testicular development and function in childhood cancer.
Clark I, Brougham MFH, Spears N, Mitchell RT
Hum Reprod Update 2023 Mar 1;29(2):233-245. doi: 10.1093/humupd/dmac039. PMID: 36495566Free PMC Article
Comparison of intracytoplasmic sperm injection (ICSI) outcomes in infertile men with spermatogenic impairment of differing severity.
Ping P, Zheng Z, Ma Y, Zou SS, Chen XF
Asian J Androl 2022 May-Jun;24(3):299-304. doi: 10.4103/aja202151. PMID: 34677147Free PMC Article
Monogenic causes of non-obstructive azoospermia: challenges, established knowledge, limitations and perspectives.
Kasak L, Laan M
Hum Genet 2021 Jan;140(1):135-154. Epub 2020 Jan 18 doi: 10.1007/s00439-020-02112-y. PMID: 31955275
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
Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1.
Lopes AM, Aston KI, Thompson E, Carvalho F, Gonçalves J, Huang N, Matthiesen R, Noordam MJ, Quintela I, Ramu A, Seabra C, Wilfert AB, Dai J, Downie JM, Fernandes S, Guo X, Sha J, Amorim A, Barros A, Carracedo A, Hu Z, Hurles ME, Moskovtsev S, Ober C, Paduch DA, Schiffman JD, Schlegel PN, Sousa M, Carrell DT, Conrad DF
PLoS Genet 2013 Mar;9(3):e1003349. Epub 2013 Mar 21 doi: 10.1371/journal.pgen.1003349. PMID: 23555275Free PMC Article

Diagnosis

Genetics of Azoospermia.
Cioppi F, Rosta V, Krausz C
Int J Mol Sci 2021 Mar 23;22(6) doi: 10.3390/ijms22063264. PMID: 33806855Free PMC Article
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
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
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
The presence of germ cells in the semen of azoospermic, cryptozoospermic and severe oligozoospermic patients: stringent flow cytometric analysis and correlations with hormonal status.
Yeung CH, Beiglböck-Karau L, Tüttelmann F, Nieschlag E
Clin Endocrinol (Oxf) 2007 Nov;67(5):767-75. Epub 2007 Jul 4 doi: 10.1111/j.1365-2265.2007.02961.x. PMID: 17610519

Prognosis

Monogenic causes of non-obstructive azoospermia: challenges, established knowledge, limitations and perspectives.
Kasak L, Laan M
Hum Genet 2021 Jan;140(1):135-154. Epub 2020 Jan 18 doi: 10.1007/s00439-020-02112-y. PMID: 31955275
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

Monogenic causes of non-obstructive azoospermia: challenges, established knowledge, limitations and perspectives.
Kasak L, Laan M
Hum Genet 2021 Jan;140(1):135-154. Epub 2020 Jan 18 doi: 10.1007/s00439-020-02112-y. PMID: 31955275
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
Partial AZFc deletions and duplications: clinical correlates in the Italian population.
Giachini C, Laface I, Guarducci E, Balercia G, Forti G, Krausz C
Hum Genet 2008 Nov;124(4):399-410. Epub 2008 Sep 21 doi: 10.1007/s00439-008-0561-1. PMID: 18807255

Recent systematic reviews

The impact of vincristine on testicular development and function in childhood cancer.
Clark I, Brougham MFH, Spears N, Mitchell RT
Hum Reprod Update 2023 Mar 1;29(2):233-245. doi: 10.1093/humupd/dmac039. PMID: 36495566Free 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

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • 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

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