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Globozoospermia(SPGF6)

MedGen UID:
96048
Concept ID:
C0403825
Finding
Synonyms: ACROSOME MALFORMATION OF SPERMATOZOA; ROUND-HEADED SPERMATOZOA; Spermatogenic failure 6; SPGF6
SNOMED CT: Globozoospermia (236818008)
 
Gene (location): SPATA16 (3q26.31)
 
HPO: HP:0012205
Monarch Initiative: MONDO:0007060
OMIM®: 102530

Definition

Spermatogenic failure-6 (SPGF6) is a form of male infertility with globozoospermia. The acrosome is a unique structure of the mature spermatozoon, which plays an important role at the site of sperm-zonapellucida binding during the fertilization process. Globozoospermia (also called round-headed spermatozoa) is a human infertility syndrome caused by spermatogenesis defects (Lalonde et al., 1988, Singh, 1992). The most prominent feature of globozoospermia is the malformation of the acrosome and, in the most severe cases, the acrosome is totally absent. Globozoospermia is also characterized by abnormal nuclear shape as well as abnormal arrangement of the mitochondria of the spermatozoon (Battaglia et al., 1997). For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

Additional description

From MedlinePlus Genetics
Globozoospermia is a condition that affects only males. It is characterized by abnormal sperm and leads to an inability to father biological children (infertility).

Normal sperm cells have an oval-shaped head with a cap-like covering called the acrosome. The acrosome contains enzymes that break down the outer membrane of an egg cell, allowing the sperm to fertilize the egg. The sperm cells of males with globozoospermia, however, have a round head and no acrosome. The abnormal sperm are unable to fertilize an egg cell, leading to infertility.  https://medlineplus.gov/genetics/condition/globozoospermia

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.
Globozoospermia
MedGen UID:
96048
Concept ID:
C0403825
Finding
Spermatogenic failure-6 (SPGF6) is a form of male infertility with globozoospermia. The acrosome is a unique structure of the mature spermatozoon, which plays an important role at the site of sperm-zonapellucida binding during the fertilization process. Globozoospermia (also called round-headed spermatozoa) is a human infertility syndrome caused by spermatogenesis defects (Lalonde et al., 1988, Singh, 1992). The most prominent feature of globozoospermia is the malformation of the acrosome and, in the most severe cases, the acrosome is totally absent. Globozoospermia is also characterized by abnormal nuclear shape as well as abnormal arrangement of the mitochondria of the spermatozoon (Battaglia et al., 1997). For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Decreased acrosin in sperm head
MedGen UID:
1393000
Concept ID:
C4476995
Finding
A reduced amount of the enzyme acrosin in the sperm head acrosome. The acrosome is an organelle in the anterior half of the head of spermatozoa, and acrosin is a protease that contributes to the digestation of the zona pellucida in the fertilization process.

Conditions with this feature

Globozoospermia
MedGen UID:
96048
Concept ID:
C0403825
Finding
Spermatogenic failure-6 (SPGF6) is a form of male infertility with globozoospermia. The acrosome is a unique structure of the mature spermatozoon, which plays an important role at the site of sperm-zonapellucida binding during the fertilization process. Globozoospermia (also called round-headed spermatozoa) is a human infertility syndrome caused by spermatogenesis defects (Lalonde et al., 1988, Singh, 1992). The most prominent feature of globozoospermia is the malformation of the acrosome and, in the most severe cases, the acrosome is totally absent. Globozoospermia is also characterized by abnormal nuclear shape as well as abnormal arrangement of the mitochondria of the spermatozoon (Battaglia et al., 1997). For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 9
MedGen UID:
462757
Concept ID:
C3151407
Disease or Syndrome
Spermatogenic failure-9 (SPGF9) is associated with globozoospermia, a rare phenotype of primary male infertility characterized by the production of a majority of round-headed spermatozoa without an acrosome (summary by Harbuz et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 66
MedGen UID:
1806298
Concept ID:
C5676945
Disease or Syndrome
Spermatogenic failure-66 (SPGF66) is characterized by male infertility due to all sperm being round-headed (globozoospermia) and lacking the acrosome (Oud et al., 2020). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 67
MedGen UID:
1804099
Concept ID:
C5676947
Disease or Syndrome
Spermatogenic failure-67 (SPGF67) is characterized by male infertility due to sperm being round-headed (globozoospermia) and lacking the acrosome (Oud et al., 2020). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 68
MedGen UID:
1812032
Concept ID:
C5676949
Disease or Syndrome
Spermatogenic failure-68 (SPGF68) is characterized by male infertility due to sperm being round-headed (globozoospermia) and lacking the acrosome (Oud et al., 2020). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 69
MedGen UID:
1811285
Concept ID:
C5676960
Disease or Syndrome
Spermatogenic failure-69 (SPGF69) is characterized by male infertility due to sperm being round-headed (globozoospermia) and lacking the acrosome (Oud et al., 2020). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure, X-linked, 7
MedGen UID:
1840203
Concept ID:
C5829567
Disease or Syndrome
X-linked spermatogenic failure-7 (SPGFX7) is characterized by male infertility due to significantly reduced sperm concentration and progressive motility, with abnormalities of the head and flagella. Patient sperm show insufficient individualization, excessive residual cytoplasm, and defects in acrosome development (Zhang et al., 2023). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).

Professional guidelines

PubMed

Heindryckx B, Van der Elst J, De Sutter P, Dhont M
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Recent clinical studies

Etiology

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Hum Reprod Update 2021 Jan 4;27(1):154-189. doi: 10.1093/humupd/dmaa034. PMID: 33118031
Chansel-Debordeaux L, Dandieu S, Bechoua S, Jimenez C
Andrology 2015 Nov;3(6):1022-34. Epub 2015 Oct 7 doi: 10.1111/andr.12081. PMID: 26445006
Coutton C, Escoffier J, Martinez G, Arnoult C, Ray PF
Hum Reprod Update 2015 Jul-Aug;21(4):455-85. Epub 2015 Apr 17 doi: 10.1093/humupd/dmv020. PMID: 25888788
Dam AH, Ramos L, Dijkman HB, Woestenenk R, Robben H, van den Hoven L, Kremer JA
J Androl 2011 Mar-Apr;32(2):199-206. Epub 2010 Sep 23 doi: 10.2164/jandrol.109.009530. PMID: 20864651

Diagnosis

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Bhattarai L , Gautam B , Raut BB , Chettri S
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Jiao SY, Yang YH, Chen SR
Hum Reprod Update 2021 Jan 4;27(1):154-189. doi: 10.1093/humupd/dmaa034. PMID: 33118031
Gatimel N, Moreau J, Parinaud J, Léandri RD
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Therapy

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Guo Y, Jiang J, Zhang H, Wen Y, Zhang H, Cui Y, Tian J, Jiang M, Liu X, Wang G, Li Y, Hu Z, Zhou Z, Sha J, Chen D, Yang X, Guo X
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Prognosis

Jiao SY, Yang YH, Chen SR
Hum Reprod Update 2021 Jan 4;27(1):154-189. doi: 10.1093/humupd/dmaa034. PMID: 33118031
Oud MS, Okutman Ö, Hendricks LAJ, de Vries PF, Houston BJ, Vissers LELM, O'Bryan MK, Ramos L, Chemes HE, Viville S, Veltman JA
Hum Reprod 2020 Jan 1;35(1):240-252. doi: 10.1093/humrep/dez246. PMID: 31985809Free PMC Article
Coutton C, Escoffier J, Martinez G, Arnoult C, Ray PF
Hum Reprod Update 2015 Jul-Aug;21(4):455-85. Epub 2015 Apr 17 doi: 10.1093/humupd/dmv020. PMID: 25888788
Holland A, Ohlendieck K
Proteomics 2015 Feb;15(4):632-48. Epub 2014 Aug 26 doi: 10.1002/pmic.201400032. PMID: 24909132
Amdani SN, Jones C, Coward K
Adv Biol Regul 2013 Sep;53(3):292-308. Epub 2013 Jul 17 doi: 10.1016/j.jbior.2013.07.005. PMID: 23916605

Clinical prediction guides

Bhattarai L , Gautam B , Raut BB , Chettri S
Kathmandu Univ Med J (KUMJ) 2023 Jan-Mar;21(81):98-99. PMID: 37800435
Chen P, Saiyin H, Shi R, Liu B, Han X, Gao Y, Ye X, Zhang X, Sun Y
Hum Reprod 2021 Aug 18;36(9):2587-2596. doi: 10.1093/humrep/deab144. PMID: 34172998
Jiao SY, Yang YH, Chen SR
Hum Reprod Update 2021 Jan 4;27(1):154-189. doi: 10.1093/humupd/dmaa034. PMID: 33118031
Amdani SN, Jones C, Coward K
Adv Biol Regul 2013 Sep;53(3):292-308. Epub 2013 Jul 17 doi: 10.1016/j.jbior.2013.07.005. PMID: 23916605
Dam AH, Feenstra I, Westphal JR, Ramos L, van Golde RJ, Kremer JA
Hum Reprod Update 2007 Jan-Feb;13(1):63-75. Epub 2006 Sep 28 doi: 10.1093/humupd/dml047. PMID: 17008355

Recent systematic reviews

Rubino P, Viganò P, Luddi A, Piomboni P
Hum Reprod Update 2016 Mar-Apr;22(2):194-227. Epub 2015 Nov 18 doi: 10.1093/humupd/dmv050. PMID: 26586241

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