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Spermatogenic failure 65(SPGF65)

MedGen UID:: 1794277
•Concept ID:: C5562067
•: Disease or Syndrome

Synonym:	SPGF65

Gene (location): Gene(s) directly associated with this condition or phenotype.	DNHD1 (11p15.4)

Monarch Initiative:	MONDO:0030531
OMIM®:	619712

Definition

Spermatogenic failure-65 (SPGF65) is characterized by male infertility due to asthenoteratozoospermia. Progressive sperm motility is severely reduced or absent, and patients exhibit multiple morphologic abnormalities of the flagella (MMAF), including coiled, irregular-caliber, short, and absent flagella. Abnormalities of the flagellar midpiece are also present (Tan et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of SPGF, 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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Abnormal sperm mid-piece morphology

MedGen UID:: 868306
•Concept ID:: C4022700
•: Finding

A structural abnormality of the sperm mid-piece.

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Reduced sperm motility

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

An abnormal reduction in the mobility of ejaculated sperm.

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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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Irregularly shaped sperm tail

MedGen UID:: 1687959
•Concept ID:: C5233737
•: Finding

Irregular or changing caliber (diameter) along the tail of the sperm.

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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

Microdeletions and microduplications linked to severe congenital disorders in infertile men.

Kikas T, Punab AM, Kasak L, Poolamets O, Vihljajev V, Pomm K, Reiman M, Tjagur S, Korrovits P, Punab M, Laan M
Sci Rep 2023 Jan 11;13(1):574. doi: 10.1038/s41598-023-27750-w. PMID: 36631630 Free PMC Article

External and Genetic Conditions Determining Male Infertility.

Kamiński P, Baszyński J, Jerzak I, Kavanagh BP, Nowacka-Chiari E, Polanin M, Szymański M, Woźniak A, Kozera W
Int J Mol Sci 2020 Jul 24;21(15) doi: 10.3390/ijms21155274. PMID: 32722328 Free PMC Article

Y chromosome b2/b3 deletions and male infertility: A comprehensive meta-analysis, trial sequential analysis and systematic review.

Bansal SK, Gupta G, Rajender S
Mutat Res Rev Mutat Res 2016 Apr-Jun;768:78-90. Epub 2016 May 4 doi: 10.1016/j.mrrev.2016.04.007. PMID: 27234565

Copy-number variations in Y-chromosomal azoospermia factor regions identified by multiplex ligation-dependent probe amplification.

Saito K, Miyado M, Kobori Y, Tanaka Y, Ishikawa H, Yoshida A, Katsumi M, Saito H, Kubota T, Okada H, Ogata T, Fukami M
J Hum Genet 2015 Mar;60(3):127-31. Epub 2015 Jan 8 doi: 10.1038/jhg.2014.115. PMID: 25566757

High frequency of gr/gr chromosome Y deletions in consecutive oligospermic ICSI candidates.

de Llanos M, Ballescà JL, Gázquez C, Margarit E, Oliva R
Hum Reprod 2005 Jan;20(1):216-20. Epub 2004 Oct 28 doi: 10.1093/humrep/deh582. PMID: 15513974

See all (6)

Diagnosis

Male Infertility Diagnosis: Improvement of Genetic Analysis Performance by the Introduction of Pre-Diagnostic Genes in a Next-Generation Sequencing Custom-Made Panel.

Precone V, Cannarella R, Paolacci S, Busetto GM, Beccari T, Stuppia L, Tonini G, Zulian A, Marceddu G, Calogero AE, Bertelli M
Front Endocrinol (Lausanne) 2020;11:605237. Epub 2021 Jan 26 doi: 10.3389/fendo.2020.605237. PMID: 33574797 Free PMC Article

External and Genetic Conditions Determining Male Infertility.

DAX-1 and DAX-1A expression in human testicular tissues with primary spermatogenic failure.

Lardone MC, Parada-Bustamante A, Ebensperger M, Valdevenito R, Kakarieka E, Martínez D, Pommer R, Piottante A, Castro A
Mol Hum Reprod 2011 Dec;17(12):739-46. Epub 2011 Jul 20 doi: 10.1093/molehr/gar051. PMID: 21775412

The presence of germ cells in the semen of azoospermic, cryptozoospermic and severe oligozoospermic patients: stringent flow cytometric analysis and correlations with hormonal status.

Yeung CH, Beiglböck-Karau L, Tüttelmann F, Nieschlag E
Clin Endocrinol (Oxf) 2007 Nov;67(5):767-75. Epub 2007 Jul 4 doi: 10.1111/j.1365-2265.2007.02961.x. PMID: 17610519

See all (4)

Therapy

External and Genetic Conditions Determining Male Infertility.

Y chromosome b2/b3 deletions and male infertility: A comprehensive meta-analysis, trial sequential analysis and systematic review.

Bansal SK, Gupta G, Rajender S
Mutat Res Rev Mutat Res 2016 Apr-Jun;768:78-90. Epub 2016 May 4 doi: 10.1016/j.mrrev.2016.04.007. PMID: 27234565

See all (2)

Prognosis

High frequency of gr/gr chromosome Y deletions in consecutive oligospermic ICSI candidates.

de Llanos M, Ballescà JL, Gázquez C, Margarit E, Oliva R
Hum Reprod 2005 Jan;20(1):216-20. Epub 2004 Oct 28 doi: 10.1093/humrep/deh582. PMID: 15513974

See all (1)