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Spermatogenic failure 56(SPGF56)

MedGen UID:
1794188
•Concept ID:
C5561978
•
Disease or Syndrome
Synonyms: SPERMATOGENIC FAILURE 56; SPGF56
 
Gene (location): DNAH10 (12q24.31)
 
Monarch Initiative: MONDO:0030430
OMIM®: 619515

Definition

Spermatogenic failure-56 (SPGF56) is characterized by male infertility due to multiple morphologic abnormalities of the flagella (MMAF), resulting in severely reduced sperm motility (Tu et al., 2021). 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
Oligospermia
MedGen UID:
18162
•Concept ID:
C0028960
•
Disease or Syndrome
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
Reduced sperm motility
MedGen UID:
98339
•Concept ID:
C0403823
•
Disease or Syndrome
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
Short sperm flagella
MedGen UID:
1623693
•Concept ID:
C4539787
•
Finding
Sperm cells with abnormally short 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
Irregularly shaped sperm tail
MedGen UID:
1687959
•Concept ID:
C5233737
•
Finding
Irregular or changing caliber (diameter) along the tail of the sperm.
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

Recent clinical studies

Etiology

Microdeletions and microduplications linked to severe congenital disorders in infertile men.
Kikas T, Punab AM, Kasak L, Poolamets O, Vihljajev V, Pomm K, Reiman M, Tjagur S, Korrovits P, Punab M, Laan M
Sci Rep 2023 Jan 11;13(1):574. doi: 10.1038/s41598-023-27750-w. PMID: 36631630Free PMC Article
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
Association of a TDRD1 variant with spermatogenic failure susceptibility in the Han Chinese.
Zhu XB, Lu JQ, Zhi EL, Zhu Y, Zou SS, Zhu ZJ, Zhang F, Li Z
J Assist Reprod Genet 2016 Aug;33(8):1099-104. Epub 2016 May 27 doi: 10.1007/s10815-016-0738-9. PMID: 27233649Free PMC Article
Copy-number variations in Y-chromosomal azoospermia factor regions identified by multiplex ligation-dependent probe amplification.
Saito K, Miyado M, Kobori Y, Tanaka Y, Ishikawa H, Yoshida A, Katsumi M, Saito H, Kubota T, Okada H, Ogata T, Fukami M
J Hum Genet 2015 Mar;60(3):127-31. Epub 2015 Jan 8 doi: 10.1038/jhg.2014.115. PMID: 25566757
FISH analysis of chromosome X, Y and 18 abnormalities in testicular sperm from azoospermic patients.
Mateizel I, Verheyen G, Van Assche E, Tournaye H, Liebaers I, Van Steirteghem A
Hum Reprod 2002 Sep;17(9):2249-57. doi: 10.1093/humrep/17.9.2249. PMID: 12202410

Diagnosis

Pseudoautosomal abnormalities in terminal AZFb+c deletions are associated with isochromosomes Yp and may lead to abnormal growth and neuropsychiatric function.
Castro A, Rodríguez F, Flórez M, López P, Curotto B, Martínez D, Maturana A, Lardone MC, Palma C, Mericq V, Ebensperger M, Cassorla F
Hum Reprod 2017 Feb;32(2):465-475. Epub 2017 Jan 5 doi: 10.1093/humrep/dew333. PMID: 28057878
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

Clinical prediction guides

Microdeletions and microduplications linked to severe congenital disorders in infertile men.
Kikas T, Punab AM, Kasak L, Poolamets O, Vihljajev V, Pomm K, Reiman M, Tjagur S, Korrovits P, Punab M, Laan M
Sci Rep 2023 Jan 11;13(1):574. doi: 10.1038/s41598-023-27750-w. PMID: 36631630Free PMC Article
Pseudoautosomal abnormalities in terminal AZFb+c deletions are associated with isochromosomes Yp and may lead to abnormal growth and neuropsychiatric function.
Castro A, Rodríguez F, Flórez M, López P, Curotto B, Martínez D, Maturana A, Lardone MC, Palma C, Mericq V, Ebensperger M, Cassorla F
Hum Reprod 2017 Feb;32(2):465-475. Epub 2017 Jan 5 doi: 10.1093/humrep/dew333. PMID: 28057878
Copy-number variations in Y-chromosomal azoospermia factor regions identified by multiplex ligation-dependent probe amplification.
Saito K, Miyado M, Kobori Y, Tanaka Y, Ishikawa H, Yoshida A, Katsumi M, Saito H, Kubota T, Okada H, Ogata T, Fukami M
J Hum Genet 2015 Mar;60(3):127-31. Epub 2015 Jan 8 doi: 10.1038/jhg.2014.115. PMID: 25566757
Genetic variants in Piwi-interacting RNA pathway genes confer susceptibility to spermatogenic failure in a Chinese population.
Gu A, Ji G, Shi X, Long Y, Xia Y, Song L, Wang S, Wang X
Hum Reprod 2010 Dec;25(12):2955-61. Epub 2010 Oct 11 doi: 10.1093/humrep/deq274. PMID: 20940137
FISH analysis of chromosome X, Y and 18 abnormalities in testicular sperm from azoospermic patients.
Mateizel I, Verheyen G, Van Assche E, Tournaye H, Liebaers I, Van Steirteghem A
Hum Reprod 2002 Sep;17(9):2249-57. doi: 10.1093/humrep/17.9.2249. PMID: 12202410

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

Supplemental Content

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    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
    • PubMed (OMIM)
      Related literature resources in PubMed

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