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Acephalic spermatozoa

MedGen UID:
868304
Concept ID:
C4022698
Disease or Syndrome
HPO: HP:0012869

Definition

Spermatozoa with very small cranial ends devoid of any nuclear material, that is, lacking a typical sperm head. [from HPO]

Term Hierarchy

Conditions with this feature

Spermatogenic failure 16
MedGen UID:
934641
Concept ID:
C4310674
Disease or Syndrome
Spermatogenic failure-16 (SPGF16) is characterized by acephalic spermatozoa causing male infertility. Semen from affected men consistently shows nearly 100% abnormally shaped spermatozoa, mostly made up of headless tails, with a small proportion of intact spermatozoa with an abnormal head-tail junction, as well as a few tailless heads. Ultrastructurally, the anomaly involves absence of the implantation fossa and basal plate between the sperm head and the tail (summary by Zhu et al., 2016). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 21
MedGen UID:
1617056
Concept ID:
C4539991
Disease or Syndrome
Spermatogenic failure-21 (SPGF21) is characterized by acephalic spermatozoa causing male infertility (Li et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 26
MedGen UID:
1644751
Concept ID:
C4693773
Disease or Syndrome
Spermatogenic failure-26 (SPGF26) is characterized by acephalic spermatozoa due to breakage that occurs in the midpiece of the sperm (Sha et al., 2018). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 31
MedGen UID:
1648419
Concept ID:
C4748234
Disease or Syndrome
SPGF31 is characterized by male infertility due to oligozoospermia with a high proportion (greater than 90%) of acephalic sperm. Affected couples may overcome infertility with intracytoplasmic sperm injection (Zhu et al., 2018). For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see 258150.
Spermatogenic failure 44
MedGen UID:
1750188
Concept ID:
C5436678
Disease or Syndrome
Spermatogenic failure-44 (SPGF44) is characterized by male infertility due to headless sperm in the ejaculate (Sha et al., 2020). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 85
MedGen UID:
1849976
Concept ID:
C5882685
Disease or Syndrome
Spermatogenic failure-85 (SPGF85) is characterized by male infertility due to globozoospermia and reduced progressive motility (Chen et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 86
MedGen UID:
1847370
Concept ID:
C5882755
Disease or Syndrome
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).

Recent clinical studies

Etiology

Jiao SY, Yang YH, Chen SR
Hum Reprod Update 2021 Jan 4;27(1):154-189. doi: 10.1093/humupd/dmaa034. PMID: 33118031
Sha YW, Xu X, Ji ZY, Lin SB, Wang X, Qiu PP, Zhou Y, Mei LB, Su ZY, Li L, Li P
Gene 2018 Mar 20;647:221-225. Epub 2018 Jan 10 doi: 10.1016/j.gene.2018.01.035. PMID: 29331481
Fang J, Zhang J, Zhu F, Yang X, Cui Y, Liu J
Hum Reprod 2018 Mar 1;33(3):372-377. doi: 10.1093/humrep/dex382. PMID: 29329387
Francavilla S, Cordeschi G, Pelliccione F, Bocchio M, Francavilla F
Front Biosci 2007 Jan 1;12:69-88. doi: 10.2741/2049. PMID: 17127284

Diagnosis

Jin HJ, Ruan T, Dai S, Geng XY, Yang Y, Shen Y, Chen SR
Elife 2023 Dec 21;12 doi: 10.7554/eLife.92769. PMID: 38126872Free PMC Article
Wang X, Jiang C, Dai S, Shen G, Yang Y, Shen Y
Clin Genet 2023 Mar;103(3):310-319. Epub 2022 Nov 30 doi: 10.1111/cge.14268. PMID: 36415156
Wang Y, Xiang MF, Zheng N, Cao YX, Zhu FX
Asian J Androl 2022 May-Jun;24(3):231-237. doi: 10.4103/aja202198. PMID: 35074941Free PMC Article
Jiao SY, Yang YH, Chen SR
Hum Reprod Update 2021 Jan 4;27(1):154-189. doi: 10.1093/humupd/dmaa034. PMID: 33118031
Sha YW, Wang X, Xu X, Ding L, Liu WS, Li P, Su ZY, Chen J, Mei LB, Zheng LK, Wang HL, Kong SB, You M, Wu JF
Clin Genet 2019 Feb;95(2):277-286. Epub 2018 Nov 27 doi: 10.1111/cge.13461. PMID: 30298696

Prognosis

Wang X, Jiang C, Dai S, Shen G, Yang Y, Shen Y
Clin Genet 2023 Mar;103(3):310-319. Epub 2022 Nov 30 doi: 10.1111/cge.14268. PMID: 36415156
Xiang M, Wang Y, Wang K, Kong S, Lu M, Zhang J, Duan Z, Zha X, Shi X, Wang F, Cao Y, Zhu F
Reprod Sci 2022 Feb;29(2):646-651. Epub 2021 Jun 22 doi: 10.1007/s43032-021-00665-5. PMID: 34159570
Xiang M, Wang Y, Xu W, Zheng N, Zhang J, Duan Z, Zha X, Shi X, Wang F, Cao Y, Zhu F
J Assist Reprod Genet 2021 Oct;38(10):2791-2799. Epub 2021 Aug 18 doi: 10.1007/s10815-021-02295-x. PMID: 34409526Free PMC Article
Jiao SY, Yang YH, Chen SR
Hum Reprod Update 2021 Jan 4;27(1):154-189. doi: 10.1093/humupd/dmaa034. PMID: 33118031
Nie H, Tang Y, Qin W
Biomed Res Int 2020;2020:6279795. Epub 2020 Feb 10 doi: 10.1155/2020/6279795. PMID: 32104701Free PMC Article

Clinical prediction guides

Graziani A, Rocca MS, Vinanzi C, Masi G, Grande G, De Toni L, Ferlin A
Genes (Basel) 2024 May 8;15(5) doi: 10.3390/genes15050600. PMID: 38790229Free PMC Article
Xiang M, Wang Y, Wang K, Kong S, Lu M, Zhang J, Duan Z, Zha X, Shi X, Wang F, Cao Y, Zhu F
Reprod Sci 2022 Feb;29(2):646-651. Epub 2021 Jun 22 doi: 10.1007/s43032-021-00665-5. PMID: 34159570
Jiao SY, Yang YH, Chen SR
Hum Reprod Update 2021 Jan 4;27(1):154-189. doi: 10.1093/humupd/dmaa034. PMID: 33118031
Nie H, Tang Y, Qin W
Biomed Res Int 2020;2020:6279795. Epub 2020 Feb 10 doi: 10.1155/2020/6279795. PMID: 32104701Free PMC Article
Shang Y, Yan J, Tang W, Liu C, Xiao S, Guo Y, Yuan L, Chen L, Jiang H, Guo X, Qiao J, Li W
J Biol Chem 2018 Feb 16;293(7):2395-2407. Epub 2018 Jan 3 doi: 10.1074/jbc.RA117.000861. PMID: 29298896Free PMC Article

Recent systematic reviews

Mazaheri Moghaddam M, Mazaheri Moghaddam M, Hamzeiy H, Baghbanzadeh A, Pashazadeh F, Sakhinia E
J Assist Reprod Genet 2021 Mar;38(3):573-586. Epub 2021 Jan 15 doi: 10.1007/s10815-020-02008-w. PMID: 33452591Free PMC Article

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