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Spermatogenic failure 86(SPGF86)

MedGen UID:
1847370
•Concept ID:
C5882755
•
Disease or Syndrome
Synonym: SPGF86
 
Gene (location): ACTL7A (9q31.3)
 
Monarch Initiative: MONDO:0957593
OMIM®: 620499

Definition

Spermatogenic failure-86 (SPGF86) is characterized by male infertility due to acrosomal defects of the spermatozoa, resulting in oocyte activation deficiency and fertilization failure. Some oocytes exhibit early embryonic arrest after successful fertilization with patient sperm using assisted reproductive technology (Xin et al., 2020; Wang 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
Acephalic spermatozoa
MedGen UID:
868304
•Concept ID:
C4022698
•
Disease or Syndrome
Spermatozoa with very small cranial ends devoid of any nuclear material, that is, lacking a typical sperm head.
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
Ruffled acrosome
MedGen UID:
1795480
•Concept ID:
C5563270
•
Finding
An irregular wavy appearance of sperm acrosomes.
See: Feature record | Search on this feature
Acrosomal hypoplasia
MedGen UID:
1841709
•Concept ID:
C5826763
•
Finding
Reduction in the size of the acrosome of the head of spermatozoa.
See: Feature record | Search on this feature

Recent clinical studies

Etiology

Effect and in silico characterization of genetic variants associated with severe spermatogenic disorders in a large Iberian cohort.
Cerván-Martín M, Bossini-Castillo L, Rivera-Egea R, Garrido N, Luján S, Romeu G, Santos-Ribeiro S; IVIRMA Group, Lisbon Clinical Group, Castilla JA, Gonzalvo MDC, Clavero A, Vicente FJ, Guzmán-Jiménez A, Burgos M, Barrionuevo FJ, Jiménez R, Sánchez-Curbelo J, López-Rodrigo O, Peraza MF, Pereira-Caetano I, Marques PI, Carvalho F, Barros A, Bassas L, Seixas S, Gonçalves J, Larriba S, Lopes AM, Carmona FD, Palomino-Morales RJ
Andrology 2021 Jul;9(4):1151-1165. Epub 2021 Apr 20 doi: 10.1111/andr.13009. PMID: 33784440
A common 1.6 mb Y-chromosomal inversion predisposes to subsequent deletions and severe spermatogenic failure in humans.
Hallast P, Kibena L, Punab M, Arciero E, Rootsi S, Grigorova M, Flores R, Jobling MA, Poolamets O, Pomm K, Korrovits P, Rull K, Xue Y, Tyler-Smith C, Laan M
Elife 2021 Mar 30;10 doi: 10.7554/eLife.65420. PMID: 33781384Free PMC Article
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
Polymorphisms associated with the DAZ genes on the human Y chromosome.
Lin YW, Thi DA, Kuo PL, Hsu CC, Huang BD, Yu YH, Vogt PH, Krause W, Ferlin A, Foresta C, Bienvenu T, Schempp W, Yen PH
Genomics 2005 Oct;86(4):431-8. doi: 10.1016/j.ygeno.2005.07.003. PMID: 16085382
Association of a single-nucleotide polymorphism of the deleted-in-azoospermia-like gene with susceptibility to spermatogenic failure.
Teng YN, Lin YM, Lin YH, Tsao SY, Hsu CC, Lin SJ, Tsai WC, Kuo PL
J Clin Endocrinol Metab 2002 Nov;87(11):5258-64. doi: 10.1210/jc.2002-020016. PMID: 12414900

Diagnosis

Whole Exome Sequencing of a Consanguineous Turkish Family Identifies a Mutation in GTF2H3 in Brothers With Spermatogenic Failure.
Clavijo RI, Arora H, Gibbs E, Cohen S, Griswold A, Bakircioglu E, Bademci G, Tekin M, Ramasamy R
Urology 2018 Oct;120:86-89. Epub 2018 Jun 30 doi: 10.1016/j.urology.2018.06.031. PMID: 29966603

Therapy

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

Whole Exome Sequencing of a Consanguineous Turkish Family Identifies a Mutation in GTF2H3 in Brothers With Spermatogenic Failure.
Clavijo RI, Arora H, Gibbs E, Cohen S, Griswold A, Bakircioglu E, Bademci G, Tekin M, Ramasamy R
Urology 2018 Oct;120:86-89. Epub 2018 Jun 30 doi: 10.1016/j.urology.2018.06.031. PMID: 29966603

Clinical prediction guides

Whole Exome Sequencing of a Consanguineous Turkish Family Identifies a Mutation in GTF2H3 in Brothers With Spermatogenic Failure.
Clavijo RI, Arora H, Gibbs E, Cohen S, Griswold A, Bakircioglu E, Bademci G, Tekin M, Ramasamy R
Urology 2018 Oct;120:86-89. Epub 2018 Jun 30 doi: 10.1016/j.urology.2018.06.031. PMID: 29966603
Testicular expression of synaptonemal complex protein 3 (SYCP3) messenger ribonucleic acid in 110 patients with nonobstructive azoospermia.
Aarabi M, Modarressi MH, Soltanghoraee H, Behjati R, Amirjannati N, Akhondi MM
Fertil Steril 2006 Aug;86(2):325-31. Epub 2006 Jul 5 doi: 10.1016/j.fertnstert.2005.12.070. PMID: 16824523
Double-blind Y chromosome microdeletion analysis in men with known sperm parameters and reproductive hormone profiles: microdeletions are specific for spermatogenic failure.
Krausz C, Rajpert-De Meyts E, Frydelund-Larsen L, Quintana-Murci L, McElreavey K, Skakkebaek NE
J Clin Endocrinol Metab 2001 Jun;86(6):2638-42. doi: 10.1210/jcem.86.6.7527. PMID: 11397865

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    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

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