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Spermatogenic failure 49(SPGF49)

MedGen UID:
1742668
•Concept ID:
C5436887
•
Disease or Syndrome
Synonyms: SPERMATOGENIC FAILURE 49; SPGF49
 
Gene (location): CFAP58 (10q25.1)
 
Monarch Initiative: MONDO:0030868
OMIM®: 619144

Definition

Spermatogenic failure-49 (SPGF49) is characterized by male infertility due to multiple morphologic abnormalities of the sperm flagella (MMAF), primarily coiled and short flagella, with markedly reduced or no progressive motility (He et al., 2020). For a discussion of genetic heterogeneity of spermatogenic failure, see 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
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

Recent clinical studies

Etiology

Assessing the cognitive and behavioral development of 3-year-old children born from fathers with severe male infertility.
Cheung S, Neri QV, Squires J, Rosenwaks Z, Palermo GD
Am J Obstet Gynecol 2021 May;224(5):508.e1-508.e11. Epub 2020 Nov 26 doi: 10.1016/j.ajog.2020.11.030. PMID: 33248137
High serum FSH is not a risk factor for low bone mineral density in infertile men.
Antonio L, Priskorn L, Olesen IA, Petersen JH, Vanderschueren D, Jørgensen N
Bone 2020 Jul;136:115366. Epub 2020 Apr 15 doi: 10.1016/j.bone.2020.115366. PMID: 32304878
Decrease of anti-Mullerian hormone in genetic spermatogenic failure.
Plotton I, Garby L, Morel Y, Lejeune H
Andrologia 2012 Oct;44(5):349-54. Epub 2011 Mar 25 doi: 10.1111/j.1439-0272.2010.01092.x. PMID: 21486417
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
Decrease of both stem cell factor and clusterin mRNA levels in testicular biopsies of azoospermic patients with constitutive or idiopathic but not acquired spermatogenic failure.
Plotton I, Sanchez P, Durand P, Lejeune H
Hum Reprod 2006 Sep;21(9):2340-5. Epub 2006 May 18 doi: 10.1093/humrep/del158. PMID: 16709604

Diagnosis

First study of microdeletions in the Y chromosome of Algerian infertile men with idiopathic oligo- or azoospermia.
Chellat D, Rezgoune ML, McElreavey K, Kherouatou N, Benbouhadja S, Douadi H, Cherifa B, Abadi N, Satta D
Urol Int 2013;90(4):455-9. Epub 2013 Mar 16 doi: 10.1159/000347046. PMID: 23548818
Diagnostic evaluation of oxidoreductive capability of sperm mitochondria.
Piasecka M, Gaczarzewicz D, Kurzawa R, Laszczyńska M, Kram A
Rocz Akad Med Bialymst 2004;49 Suppl 1:108-10. PMID: 15638390

Prognosis

High serum FSH is not a risk factor for low bone mineral density in infertile men.
Antonio L, Priskorn L, Olesen IA, Petersen JH, Vanderschueren D, Jørgensen N
Bone 2020 Jul;136:115366. Epub 2020 Apr 15 doi: 10.1016/j.bone.2020.115366. PMID: 32304878
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
Diagnostic evaluation of oxidoreductive capability of sperm mitochondria.
Piasecka M, Gaczarzewicz D, Kurzawa R, Laszczyńska M, Kram A
Rocz Akad Med Bialymst 2004;49 Suppl 1:108-10. PMID: 15638390

Clinical prediction guides

Fertility problems in men carrying a translocation involved in breakpoints on chromosome 17p13: A retrospective, observational study.
Li R
Medicine (Baltimore) 2022 Dec 9;101(49):e32216. doi: 10.1097/MD.0000000000032216. PMID: 36626513Free PMC Article
Assessing the cognitive and behavioral development of 3-year-old children born from fathers with severe male infertility.
Cheung S, Neri QV, Squires J, Rosenwaks Z, Palermo GD
Am J Obstet Gynecol 2021 May;224(5):508.e1-508.e11. Epub 2020 Nov 26 doi: 10.1016/j.ajog.2020.11.030. PMID: 33248137
High serum FSH is not a risk factor for low bone mineral density in infertile men.
Antonio L, Priskorn L, Olesen IA, Petersen JH, Vanderschueren D, Jørgensen N
Bone 2020 Jul;136:115366. Epub 2020 Apr 15 doi: 10.1016/j.bone.2020.115366. PMID: 32304878
Decrease of anti-Mullerian hormone in genetic spermatogenic failure.
Plotton I, Garby L, Morel Y, Lejeune H
Andrologia 2012 Oct;44(5):349-54. Epub 2011 Mar 25 doi: 10.1111/j.1439-0272.2010.01092.x. PMID: 21486417
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

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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

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