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Spermatogenic failure 80(SPGF80)

MedGen UID:: 1824074
•Concept ID:: C5774301
•: Disease or Syndrome

Synonym:	SPGF80

Gene (location): Gene(s) directly associated with this condition or phenotype.	DRC1 (2p23.3)

Monarch Initiative:	MONDO:0859364
OMIM®:	620222

Definition

Spermatogenic failure-80 (SPGF80) is characterized by male infertility due to multiple morphologic abnormalities of the flagella (MMAF), including short, coiled, absent, and irregular-caliber flagella, with correspondingly reduced or absent progressive motility of sperm. Abnormalities of the sperm head have also been observed. Severe axonemal disorganization is evident on transmission electron microscopy (Zhang et al., 2021). For 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.

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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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Absent sperm flagella

MedGen UID:: 1623855
•Concept ID:: C4539786
•: Finding

Sperm cells lacking flagella.

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Short sperm flagella

MedGen UID:: 1623693
•Concept ID:: C4539787
•: Finding

Sperm cells with abnormally short flagella.

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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

Professional guidelines

PubMed

Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory.

Lo Giacco D, Chianese C, Sánchez-Curbelo J, Bassas L, Ruiz P, Rajmil O, Sarquella J, Vives A, Ruiz-Castañé E, Oliva R, Ars E, Krausz C
Eur J Hum Genet 2014 Jun;22(6):754-61. Epub 2013 Nov 6 doi: 10.1038/ejhg.2013.253. PMID: 24193344 Free PMC Article

Population study of causes, treatment, and outcome of infertility.

Hull MG, Glazener CM, Kelly NJ, Conway DI, Foster PA, Hinton RA, Coulson C, Lambert PA, Watt EM, Desai KM
Br Med J (Clin Res Ed) 1985 Dec 14;291(6510):1693-7. doi: 10.1136/bmj.291.6510.1693. PMID: 3935248 Free PMC Article

See all (2)

Recent clinical studies

Etiology

A Novel Locus Predicts Spermatogenic Recovery among Childhood Cancer Survivors Exposed to Alkylating Agents.

Sapkota Y, Wilson CL, Zaidi AK, Moon W, Fon Tacer K, Lu L, Liu Q, Baedke J, Dhaduk R, Wang Z, Chemaitilly W, Krasin MJ, Berry FB, Zhang J, Hudson MM, Robison LL, Green DM, Yasui Y
Cancer Res 2020 Sep 1;80(17):3755-3764. Epub 2020 Jun 17 doi: 10.1158/0008-5472.CAN-20-0093. PMID: 32554749 Free PMC Article

The mutational spectrum of WT1 in male infertility.

Seabra CM, Quental S, Lima AC, Carvalho F, Gonçalves J, Fernandes S, Pereira I, Silva J, Marques PI, Sousa M, Barros A, Seixas S, Amorim A, Lopes AM
J Urol 2015 May;193(5):1709-15. Epub 2014 Nov 11 doi: 10.1016/j.juro.2014.11.004. PMID: 25451826

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

Y Chromosome microdeletion and altered sperm quality in human males with high concentration of seminal hexachlorocyclohexane (HCH).

Khan FH, Ganesan P, Kumar S
Chemosphere 2010 Aug;80(9):972-7. Epub 2010 Jun 18 doi: 10.1016/j.chemosphere.2010.05.047. PMID: 20561669

The association of Y chromosome haplogroups with spermatogenic failure in the Han Chinese.

Lu C, Zhang F, Xia Y, Wu B, Gu A, Lu N, Wang S, Shen H, Jin L, Wang X
J Hum Genet 2007;52(8):659-663. Epub 2007 Jun 9 doi: 10.1007/s10038-007-0160-3. PMID: 17558462

See all (11)

Diagnosis

A Novel Locus Predicts Spermatogenic Recovery among Childhood Cancer Survivors Exposed to Alkylating Agents.

Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory.

First study of microdeletions in the Y chromosome of Algerian infertile men with idiopathic oligo- or azoospermia.

Chellat D, Rezgoune ML, McElreavey K, Kherouatou N, Benbouhadja S, Douadi H, Cherifa B, Abadi N, Satta D
Urol Int 2013;90(4):455-9. Epub 2013 Mar 16 doi: 10.1159/000347046. PMID: 23548818

Varicocele repair improves semen parameters in azoospermic men with spermatogenic failure.

Kim ED, Leibman BB, Grinblat DM, Lipshultz LI
J Urol 1999 Sep;162(3 Pt 1):737-40. doi: 10.1097/00005392-199909010-00031. PMID: 10458356

Testicular findings, endocrine features and therapeutic responses of men with acquired hypogonadotropic hypogonadism.

Tachiki H, Ito N, Maruta H, Kumamoto Y, Tsukamoto T
Int J Urol 1998 Jan;5(1):80-5. doi: 10.1111/j.1442-2042.1998.tb00244.x. PMID: 9535606

See all (5)

Therapy

A Novel Locus Predicts Spermatogenic Recovery among Childhood Cancer Survivors Exposed to Alkylating Agents.

Haplotype analysis of the estrogen receptor 1 gene in male genital and reproductive abnormalities.

Watanabe M, Yoshida R, Ueoka K, Aoki K, Sasagawa I, Hasegawa T, Sueoka K, Kamatani N, Yoshimura Y, Ogata T
Hum Reprod 2007 May;22(5):1279-84. Epub 2007 Feb 5 doi: 10.1093/humrep/del513. PMID: 17283037

The INSL3-LGR8/GREAT ligand-receptor pair in human cryptorchidism.

Ferlin A, Simonato M, Bartoloni L, Rizzo G, Bettella A, Dottorini T, Dallapiccola B, Foresta C
J Clin Endocrinol Metab 2003 Sep;88(9):4273-9. doi: 10.1210/jc.2003-030359. PMID: 12970298

Varicocele repair improves semen parameters in azoospermic men with spermatogenic failure.

Kim ED, Leibman BB, Grinblat DM, Lipshultz LI
J Urol 1999 Sep;162(3 Pt 1):737-40. doi: 10.1097/00005392-199909010-00031. PMID: 10458356

Testicular findings, endocrine features and therapeutic responses of men with acquired hypogonadotropic hypogonadism.

Tachiki H, Ito N, Maruta H, Kumamoto Y, Tsukamoto T
Int J Urol 1998 Jan;5(1):80-5. doi: 10.1111/j.1442-2042.1998.tb00244.x. PMID: 9535606

See all (6)

Prognosis

A Novel Locus Predicts Spermatogenic Recovery among Childhood Cancer Survivors Exposed to Alkylating Agents.

Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory.

Association of three isoforms of the meiotic BOULE gene with spermatogenic failure in infertile men.

Kostova E, Yeung CH, Luetjens CM, Brune M, Nieschlag E, Gromoll J
Mol Hum Reprod 2007 Feb;13(2):85-93. Epub 2006 Nov 17 doi: 10.1093/molehr/gal101. PMID: 17114206

Varicocele repair improves semen parameters in azoospermic men with spermatogenic failure.

Kim ED, Leibman BB, Grinblat DM, Lipshultz LI
J Urol 1999 Sep;162(3 Pt 1):737-40. doi: 10.1097/00005392-199909010-00031. PMID: 10458356

Population study of causes, treatment, and outcome of infertility.

See all (5)

Clinical prediction guides

Molecular diversity and phenotypic pleiotropy of ancient genomic regulatory loci derived from human endogenous retrovirus type H (HERVH) promoter LTR7 and HERVK promoter LTR5_Hs and their contemporary impacts on pathophysiology of Modern Humans.

Glinsky GV
Mol Genet Genomics 2022 Nov;297(6):1711-1740. Epub 2022 Sep 19 doi: 10.1007/s00438-022-01954-7. PMID: 36121513 Free PMC Article

A Novel Locus Predicts Spermatogenic Recovery among Childhood Cancer Survivors Exposed to Alkylating Agents.

First study of microdeletions in the Y chromosome of Algerian infertile men with idiopathic oligo- or azoospermia.

Chellat D, Rezgoune ML, McElreavey K, Kherouatou N, Benbouhadja S, Douadi H, Cherifa B, Abadi N, Satta D
Urol Int 2013;90(4):455-9. Epub 2013 Mar 16 doi: 10.1159/000347046. PMID: 23548818

Y Chromosome microdeletion and altered sperm quality in human males with high concentration of seminal hexachlorocyclohexane (HCH).

Khan FH, Ganesan P, Kumar S
Chemosphere 2010 Aug;80(9):972-7. Epub 2010 Jun 18 doi: 10.1016/j.chemosphere.2010.05.047. PMID: 20561669

Varicocele repair improves semen parameters in azoospermic men with spermatogenic failure.

Kim ED, Leibman BB, Grinblat DM, Lipshultz LI
J Urol 1999 Sep;162(3 Pt 1):737-40. doi: 10.1097/00005392-199909010-00031. PMID: 10458356

See all (7)

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Spermatogenic failure 80(SPGF80)

Definition

Clinical features

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

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Table of contents

Clinical resources

Practice guidelines

Molecular resources

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