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Spermatogenic failure 41(SPGF41)

MedGen UID:
1684739
•Concept ID:
C5231455
•
Disease or Syndrome
Synonyms: SPERMATOGENIC FAILURE 41; SPGF41
 
Gene (location): CFAP70 (10q22.2)
 
Monarch Initiative: MONDO:0032863
OMIM®: 618670

Definition

Spermatogenic failure-41 (SPGF41) is characterized by infertility due to multiple morphologic abnormalities of the flagella (MMAF). Patient semen analysis has also shown oligozoospermia, and the flagellar abnormalities include short, absent, coiled, and irregular-caliber flagella. Some sperm show tapered heads and acrosomal abnormalities (Beurois 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
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
Immotile sperm
MedGen UID:
701339
•Concept ID:
C1278278
•
Finding
A lack of mobility of ejaculated sperm.
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
Short sperm flagella
MedGen UID:
1623693
•Concept ID:
C4539787
•
Finding
Sperm cells with abnormally short flagella.
See: Feature record | Search on this feature

Recent clinical studies

Etiology

Reproductive outcomes and Y chromosome instability in radiation-exposed male workers in cardiac catheterization laboratory.
Andreassi MG, Borghini A, Vecoli C, Piccaluga E, Guagliumi G, Del Greco M, Gaita F, Picano E
Environ Mol Mutagen 2020 Mar;61(3):361-368. Epub 2019 Oct 25 doi: 10.1002/em.22341. PMID: 31605552
Overexpression of CYP19A1 aromatase in Leydig cells is associated with steroidogenic dysfunction in subjects with Sertoli cell-only syndrome.
Lardone MC, Argandoña F, Flórez M, Parada-Bustamante A, Ebensperger M, Palma C, Piottante A, Castro A
Andrology 2017 Jan;5(1):41-48. Epub 2016 Oct 21 doi: 10.1111/andr.12289. PMID: 27769104
Quantitative histological analysis and ultrastructure of the aging human testis.
Jiang H, Zhu WJ, Li J, Chen QJ, Liang WB, Gu YQ
Int Urol Nephrol 2014 May;46(5):879-85. Epub 2013 Nov 26 doi: 10.1007/s11255-013-0610-0. PMID: 24277275
AZFc deletions and spermatogenic failure: a population-based survey of 20,000 Y chromosomes.
Rozen SG, Marszalek JD, Irenze K, Skaletsky H, Brown LG, Oates RD, Silber SJ, Ardlie K, Page DC
Am J Hum Genet 2012 Nov 2;91(5):890-6. Epub 2012 Oct 25 doi: 10.1016/j.ajhg.2012.09.003. PMID: 23103232Free PMC Article
Association of DAZL haplotypes with spermatogenic failure in infertile men.
Teng YN, Lin YM, Sun HF, Hsu PY, Chung CL, Kuo PL
Fertil Steril 2006 Jul;86(1):129-35. Epub 2006 May 30 doi: 10.1016/j.fertnstert.2005.12.027. PMID: 16730721

Diagnosis

Genomic testing for copy number and single nucleotide variants in spermatogenic failure.
Hardy J, Pollock N, Gingrich T, Sweet P, Ramesh A, Kuong J, Basar A, Jiang H, Hwang K, Vukina J, Jaffe T, Olszewska M, Kurpisz M, Yatsenko AN
J Assist Reprod Genet 2022 Sep;39(9):2103-2114. Epub 2022 Jul 18 doi: 10.1007/s10815-022-02538-5. PMID: 35849255Free PMC Article
Messenger RNA transcripts of the meiotic regulator BOULE in the testis of azoospermic men and their application in predicting the success of sperm retrieval.
Lin YM, Kuo PL, Lin YH, Teng YN, Nan Lin JS
Hum Reprod 2005 Mar;20(3):782-8. Epub 2004 Dec 9 doi: 10.1093/humrep/deh647. PMID: 15591084

Therapy

Reproductive outcomes and Y chromosome instability in radiation-exposed male workers in cardiac catheterization laboratory.
Andreassi MG, Borghini A, Vecoli C, Piccaluga E, Guagliumi G, Del Greco M, Gaita F, Picano E
Environ Mol Mutagen 2020 Mar;61(3):361-368. Epub 2019 Oct 25 doi: 10.1002/em.22341. PMID: 31605552
Association of DAZL haplotypes with spermatogenic failure in infertile men.
Teng YN, Lin YM, Sun HF, Hsu PY, Chung CL, Kuo PL
Fertil Steril 2006 Jul;86(1):129-35. Epub 2006 May 30 doi: 10.1016/j.fertnstert.2005.12.027. PMID: 16730721

Prognosis

Messenger RNA transcripts of the meiotic regulator BOULE in the testis of azoospermic men and their application in predicting the success of sperm retrieval.
Lin YM, Kuo PL, Lin YH, Teng YN, Nan Lin JS
Hum Reprod 2005 Mar;20(3):782-8. Epub 2004 Dec 9 doi: 10.1093/humrep/deh647. PMID: 15591084

Clinical prediction guides

Overexpression of CYP19A1 aromatase in Leydig cells is associated with steroidogenic dysfunction in subjects with Sertoli cell-only syndrome.
Lardone MC, Argandoña F, Flórez M, Parada-Bustamante A, Ebensperger M, Palma C, Piottante A, Castro A
Andrology 2017 Jan;5(1):41-48. Epub 2016 Oct 21 doi: 10.1111/andr.12289. PMID: 27769104
AZFc deletions and spermatogenic failure: a population-based survey of 20,000 Y chromosomes.
Rozen SG, Marszalek JD, Irenze K, Skaletsky H, Brown LG, Oates RD, Silber SJ, Ardlie K, Page DC
Am J Hum Genet 2012 Nov 2;91(5):890-6. Epub 2012 Oct 25 doi: 10.1016/j.ajhg.2012.09.003. PMID: 23103232Free PMC Article
Partial microdeletions in the Y-chromosome AZFc region are not a significant risk factor for spermatogenic impairment in Tunisian infertile men.
Ghorbel M, Gargouri SB, Zribi N, Abdallah FB, Cherif M, Keskes R, Chakroun N, Sellami A, McElreavey K, Fakhfakh F, Ammar-Keskes L
Genet Test Mol Biomarkers 2012 Jul;16(7):775-9. Epub 2012 Jun 25 doi: 10.1089/gtmb.2012.0024. PMID: 22731643
Messenger RNA transcripts of the meiotic regulator BOULE in the testis of azoospermic men and their application in predicting the success of sperm retrieval.
Lin YM, Kuo PL, Lin YH, Teng YN, Nan Lin JS
Hum Reprod 2005 Mar;20(3):782-8. Epub 2004 Dec 9 doi: 10.1093/humrep/deh647. PMID: 15591084

Supplemental Content

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    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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