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Spermatogenic failure 94(SPGF94)

MedGen UID:: 1855064
•Concept ID:: C5935627
•: Disease or Syndrome

Synonyms:	SPERMATOGENIC FAILURE 94; SPGF94

Gene (location): Gene(s) directly associated with this condition or phenotype.	CCDC146 (7q11.23)

Monarch Initiative:	MONDO:0971002
OMIM®:	620850

Definition

Spermatogenic failure-94 (SPGF94) is characterized by male infertility due to multiple morphologic abnormalities of the flagella (MMAF), including irregularly shaped, short, absent, coiled, and multiple tails. Progressive motility of spermatozoa is markedly reduced (Muronova et al., 2024). For a general phenotypic description and a 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

Oligozoospermia

MedGen UID:: 678638
•Concept ID:: C0868910
•: Finding

Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen.

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Multiflagellar spermatozoa

MedGen UID:: 368862
•Concept ID:: C1968692
•: Finding

Spermatozoa with multiple flagella attached to the sperm head.

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Reduced sperm motility

MedGen UID:: 907698
•Concept ID:: C4082176
•: Finding

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).

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Reduced progressive sperm motility

MedGen UID:: 1730031
•Concept ID:: C5436680
•: Finding

A reduced proportion of sperm that move in a straight line or large circles; alternatively, an increased proportion of sperm that move in tight circles or in some other non-linear fashion.

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Abnormality of the genitourinary system

Recent clinical studies

Etiology

Risk Y-haplotypes and pathogenic variants of Arab-ancestry boys with autism by an exome-wide association study.

Alsubaie LM, Alsuwat HS, Almandil NB, AlSulaiman A, AbdulAzeez S, Borgio JF
Mol Biol Rep 2020 Oct;47(10):7623-7632. Epub 2020 Sep 29 doi: 10.1007/s11033-020-05832-6. PMID: 32996047

Y chromosome TSPY copy numbers and semen quality.

Nickkholgh B, Noordam MJ, Hovingh SE, van Pelt AM, van der Veen F, Repping S
Fertil Steril 2010 Oct;94(5):1744-7. Epub 2009 Nov 14 doi: 10.1016/j.fertnstert.2009.09.051. PMID: 19917507

Flow cytometry application in the assessment of sperm DNA integrity of men with asthenozoospermia.

Piasecka M, Gaczarzewicz D, Laszczyńska M, Starczewski A, Brodowska A
Folia Histochem Cytobiol 2007;45 Suppl 1:S127-36. PMID: 18292820

See all (3)

Diagnosis

45,X karyotype in an infertile man: how is this possible?

Amaro A, Mafra FA, Valada Pane CE, Kulikowski LD, Bianco B, Barbosa CP, Christofolini DM
Urol Int 2015;94(4):488-90. Epub 2014 Aug 20 doi: 10.1159/000365010. PMID: 25170625

Flow cytometry application in the assessment of sperm DNA integrity of men with asthenozoospermia.

Piasecka M, Gaczarzewicz D, Laszczyńska M, Starczewski A, Brodowska A
Folia Histochem Cytobiol 2007;45 Suppl 1:S127-36. PMID: 18292820

See all (2)

Therapy

Risk Y-haplotypes and pathogenic variants of Arab-ancestry boys with autism by an exome-wide association study.

Alsubaie LM, Alsuwat HS, Almandil NB, AlSulaiman A, AbdulAzeez S, Borgio JF
Mol Biol Rep 2020 Oct;47(10):7623-7632. Epub 2020 Sep 29 doi: 10.1007/s11033-020-05832-6. PMID: 32996047

Multicenter contraceptive efficacy trial of injectable testosterone undecanoate in Chinese men.

Gu Y, Liang X, Wu W, Liu M, Song S, Cheng L, Bo L, Xiong C, Wang X, Liu X, Peng L, Yao K
J Clin Endocrinol Metab 2009 Jun;94(6):1910-5. Epub 2009 Mar 17 doi: 10.1210/jc.2008-1846. PMID: 19293262

Contraceptive efficacy of a depot progestin and androgen combination in men.

Turner L, Conway AJ, Jimenez M, Liu PY, Forbes E, McLachlan RI, Handelsman DJ
J Clin Endocrinol Metab 2003 Oct;88(10):4659-67. doi: 10.1210/jc.2003-030107. PMID: 14557437

See all (3)

Prognosis

CHD7 missense variants and clinical characteristics of Chinese males with infertility.

Li L, Wang R, Yu Y, Zhang H, Jiang Y, Yang X, Liu R
Mol Genet Genomic Med 2020 Sep;8(9):e1372. Epub 2020 Jun 22 doi: 10.1002/mgg3.1372. PMID: 32573075 Free PMC Article

45,X karyotype in an infertile man: how is this possible?

Amaro A, Mafra FA, Valada Pane CE, Kulikowski LD, Bianco B, Barbosa CP, Christofolini DM
Urol Int 2015;94(4):488-90. Epub 2014 Aug 20 doi: 10.1159/000365010. PMID: 25170625

Transmissible microdeletion of the Y-chromosome encompassing two DAZ copies, four RBMY1 copies, and both PRY copies.

Plotton I, Ducros C, Pugeat M, Morel Y, Lejeune H
Fertil Steril 2010 Dec;94(7):2770.e11-6. Epub 2010 Jun 9 doi: 10.1016/j.fertnstert.2010.04.038. PMID: 20542509

See all (3)

Clinical prediction guides

CHD7 missense variants and clinical characteristics of Chinese males with infertility.

Li L, Wang R, Yu Y, Zhang H, Jiang Y, Yang X, Liu R
Mol Genet Genomic Med 2020 Sep;8(9):e1372. Epub 2020 Jun 22 doi: 10.1002/mgg3.1372. PMID: 32573075 Free PMC Article

Y chromosome gr/gr subdeletion is associated with lower semen quality in young men from the general Japanese population but not in fertile Japanese Men.

Sato Y, Iwamoto T, Shinka T, Nozawa S, Yoshiike M, Koh E, Kanaya J, Namiki M, Matsumiya K, Tsujimura A, Komatsu K, Itoh N, Eguchi J, Yamauchi A, Nakahori Y
Biol Reprod 2014 Jun;90(6):116. Epub 2014 Apr 23 doi: 10.1095/biolreprod.114.118810. PMID: 24759788

Y chromosome TSPY copy numbers and semen quality.

Nickkholgh B, Noordam MJ, Hovingh SE, van Pelt AM, van der Veen F, Repping S
Fertil Steril 2010 Oct;94(5):1744-7. Epub 2009 Nov 14 doi: 10.1016/j.fertnstert.2009.09.051. PMID: 19917507

See all (3)

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Spermatogenic failure 94(SPGF94)

Definition

Clinical features

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

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Molecular resources

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