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Microcephalic sperm head

MedGen UID:
1640115
Concept ID:
C4693760
Finding
Synonyms: Small sperm head; Sperm with small head
 
HPO: HP:0032561

Definition

Decreased size of the head of sperm. [from HPO]

Term Hierarchy

Conditions with this feature

Spermatogenic failure 24
MedGen UID:
1646063
Concept ID:
C4693751
Disease or Syndrome
Spermatogenic failure-24 (SPGF24) is characterized by multiple morphologic abnormalities of the flagella (MMAF), including absent, short, coiled, bent, and irregular-caliber flagella. Malformations of the sperm head have also been observed. In addition, patients exhibit very low sperm concentrations and total sperm counts per ejaculate (Dong et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 42
MedGen UID:
1684744
Concept ID:
C5231488
Disease or Syndrome
Spermatogenic failure-42 (SPGF42) is characterized by infertility and spermatozoa with almost no progressive motility due to multiple morphologic abnormalities of the flagella (MMAF), including short, absent, coiled, irregular-caliber, and/or bent flagella. Some spermatozoa also show abnormalities of the head, acrosome, midpiece, or endpiece (Lores et al., 2019; Liu et al., 2019). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 51
MedGen UID:
1780365
Concept ID:
C5543033
Disease or Syndrome
Spermatogenic failure-51 (SPGF51) is characterized by male infertility due to severe asthenoteratozoospermia. Patients exhibit multiple morphologic abnormalities of the flagella (MMAF), including absent, short, bent, coiled, and irregular-caliber tails, resulting in severely reduced to absent motility. Abnormalities of the sperm head, base, and acrosome have also been observed (Martinez et al., 2020). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 78
MedGen UID:
1824049
Concept ID:
C5774276
Disease or Syndrome
Spermatogenic failure-78 (SPGF78) is characterized by male infertility resulting from an abnormal acrosome structure due to a manchette assembly defect (Dai et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure, X-linked, 6
MedGen UID:
1840198
Concept ID:
C5829562
Disease or Syndrome
X-linked spermatogenic failure-6 (SPGFX6) is characterized by male infertility due to asthenoteratozoospermia. Patient spermatozoa show reduced progressive motility, and multiple morphologic abnormalities of the flagella (MMAF) are observed, primarily short and coiled flagella. Pregnancy can be achieved by intracytoplasmic sperm injection (ICSI) (Liu et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).

Recent clinical studies

Etiology

Brahem S, Mehdi M, Elghezal H, Saad A
J Assist Reprod Genet 2011 Jan;28(1):41-8. Epub 2010 Sep 25 doi: 10.1007/s10815-010-9482-8. PMID: 20872065Free PMC Article
Jouannet P, Ducot B, Feneux D, Spira A
Int J Androl 1988 Oct;11(5):379-94. doi: 10.1111/j.1365-2605.1988.tb01011.x. PMID: 3235207
Schwartz D, Mayaux MJ, Guihard-Moscato ML, Spira A, Jouannet P, Czyglik F, David G
Andrologia 1984 Sep-Oct;16(5):423-8. doi: 10.1111/j.1439-0272.1984.tb00389.x. PMID: 6496960

Diagnosis

Sha YW, Ding L, Wu JX, Lin SB, Wang X, Ji ZY, Li P
Andrologia 2017 Oct;49(8) Epub 2016 Oct 6 doi: 10.1111/and.12716. PMID: 27709648

Prognosis

Brahem S, Mehdi M, Elghezal H, Saad A
J Assist Reprod Genet 2011 Jan;28(1):41-8. Epub 2010 Sep 25 doi: 10.1007/s10815-010-9482-8. PMID: 20872065Free PMC Article
Jouannet P, Ducot B, Feneux D, Spira A
Int J Androl 1988 Oct;11(5):379-94. doi: 10.1111/j.1365-2605.1988.tb01011.x. PMID: 3235207

Clinical prediction guides

Vigodner M, Shrivastava V, Gutstein LE, Schneider J, Nieves E, Goldstein M, Feliciano M, Callaway M
Hum Reprod 2013 Jan;28(1):210-23. Epub 2012 Oct 17 doi: 10.1093/humrep/des317. PMID: 23077236Free PMC Article
Brahem S, Mehdi M, Elghezal H, Saad A
J Assist Reprod Genet 2011 Jan;28(1):41-8. Epub 2010 Sep 25 doi: 10.1007/s10815-010-9482-8. PMID: 20872065Free PMC Article
Jouannet P, Ducot B, Feneux D, Spira A
Int J Androl 1988 Oct;11(5):379-94. doi: 10.1111/j.1365-2605.1988.tb01011.x. PMID: 3235207

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