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Spermatogenic failure 58(SPGF58)

MedGen UID:: 1794218
•Concept ID:: C5562008
•: Disease or Syndrome

Synonyms:	SPERMATOGENIC FAILURE 58; SPGF58

Gene (location): Gene(s) directly associated with this condition or phenotype.	IFT74 (9p21.2)

Monarch Initiative:	MONDO:0030463
OMIM®:	619585

Definition

Spermatogenic failure-58 (SPGF58) is characterized by male infertility due to multiple morphologic abnormalities of the flagella (MMAF). Sperm are immotile or show severely reduced progressive motility due to short and irregular caliber flagella as well as bent, coiled, and absent flagella. Head abnormalities have also been observed, including acrosomal and postacrosomal defects (Lores et al., 2021). For a general phenotypic description and 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:: 18162
•Concept ID:: C0028960
•: Disease or Syndrome

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

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Immotile sperm

MedGen UID:: 701339
•Concept ID:: C1278278
•: Finding

A lack of mobility of ejaculated sperm.

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Short sperm flagella

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

Sperm cells with abnormally short flagella.

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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

High serum FSH is not a risk factor for low bone mineral density in infertile men.

Antonio L, Priskorn L, Olesen IA, Petersen JH, Vanderschueren D, Jørgensen N
Bone 2020 Jul;136:115366. Epub 2020 Apr 15 doi: 10.1016/j.bone.2020.115366. PMID: 32304878

DAZ duplications confer the predisposition of Y chromosome haplogroup K* to non-obstructive azoospermia in Han Chinese populations.

Lu C, Wang Y, Zhang F, Lu F, Xu M, Qin Y, Wu W, Li S, Song L, Yang S, Wu D, Jin L, Shen H, Sha J, Xia Y, Hu Z, Wang X
Hum Reprod 2013 Sep;28(9):2440-9. Epub 2013 May 21 doi: 10.1093/humrep/det234. PMID: 23696539

Lack of association between DAZ gene methylation patterns and spermatogenic failure.

Wu W, Lu C, Xia Y, Shen O, Ji G, Gu A, Song L, Wang X
Clin Chem Lab Med 2010 Mar;48(3):355-60. doi: 10.1515/CCLM.2010.007. PMID: 20170395

FISH analysis of chromosome X, Y and 18 abnormalities in testicular sperm from azoospermic patients.

Mateizel I, Verheyen G, Van Assche E, Tournaye H, Liebaers I, Van Steirteghem A
Hum Reprod 2002 Sep;17(9):2249-57. doi: 10.1093/humrep/17.9.2249. PMID: 12202410

1H nuclear magnetic resonance studies of seminal plasma from fertile and infertile men.

Hamamah S, Seguin F, Barthelemy C, Akoka S, Le Pape A, Lansac J, Royere D
J Reprod Fertil 1993 Jan;97(1):51-5. doi: 10.1530/jrf.0.0970051. PMID: 8464025

See all (6)

Diagnosis

STX2 is a causative gene for nonobstructive azoospermia.

Nakamura S, Kobori Y, Ueda Y, Tanaka Y, Ishikawa H, Yoshida A, Katsumi M, Saito K, Nakamura A, Ogata T, Okada H, Nakai H, Miyado M, Fukami M
Hum Mutat 2018 Jun;39(6):830-833. Epub 2018 Apr 10 doi: 10.1002/humu.23423. PMID: 29570232

Accumulated HSV1-TK proteins interfere with spermatogenesis through a disruption of the integrity of Sertoli-germ cell junctions.

Cai LY, Kato T, Chen M, Wang H, Sekine E, Izumi S, Kato Y
J Reprod Dev 2012;58(5):544-51. Epub 2012 Jun 14 doi: 10.1262/jrd.2011-010. PMID: 22785219

Lack of association between DAZ gene methylation patterns and spermatogenic failure.

Wu W, Lu C, Xia Y, Shen O, Ji G, Gu A, Song L, Wang X
Clin Chem Lab Med 2010 Mar;48(3):355-60. doi: 10.1515/CCLM.2010.007. PMID: 20170395

Defining regions of the Y-chromosome responsible for male infertility and identification of a fourth AZF region (AZFd) by Y-chromosome microdeletion detection.

Kent-First M, Muallem A, Shultz J, Pryor J, Roberts K, Nolten W, Meisner L, Chandley A, Gouchy G, Jorgensen L, Havighurst T, Grosch J
Mol Reprod Dev 1999 May;53(1):27-41. doi: 10.1002/(SICI)1098-2795(199905)53:1<27::AID-MRD4>3.0.CO;2-W. PMID: 10230814

See all (4)

Prognosis

High serum FSH is not a risk factor for low bone mineral density in infertile men.

Antonio L, Priskorn L, Olesen IA, Petersen JH, Vanderschueren D, Jørgensen N
Bone 2020 Jul;136:115366. Epub 2020 Apr 15 doi: 10.1016/j.bone.2020.115366. PMID: 32304878

See all (1)

Clinical prediction guides

Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility.

Wyrwoll MJ, Temel ŞG, Nagirnaja L, Oud MS, Lopes AM, van der Heijden GW, Heald JS, Rotte N, Wistuba J, Wöste M, Ledig S, Krenz H, Smits RM, Carvalho F, Gonçalves J, Fietz D, Türkgenç B, Ergören MC, Çetinkaya M, Başar M, Kahraman S, McEleny K, Xavier MJ, Turner H, Pilatz A, Röpke A, Dugas M, Kliesch S, Neuhaus N; GEMINI Consortium, Aston KI, Conrad DF, Veltman JA, Friedrich C, Tüttelmann F
Am J Hum Genet 2020 Aug 6;107(2):342-351. Epub 2020 Jul 15 doi: 10.1016/j.ajhg.2020.06.010. PMID: 32673564 Free PMC Article

High serum FSH is not a risk factor for low bone mineral density in infertile men.

Antonio L, Priskorn L, Olesen IA, Petersen JH, Vanderschueren D, Jørgensen N
Bone 2020 Jul;136:115366. Epub 2020 Apr 15 doi: 10.1016/j.bone.2020.115366. PMID: 32304878

STX2 is a causative gene for nonobstructive azoospermia.

Accumulated HSV1-TK proteins interfere with spermatogenesis through a disruption of the integrity of Sertoli-germ cell junctions.

Cai LY, Kato T, Chen M, Wang H, Sekine E, Izumi S, Kato Y
J Reprod Dev 2012;58(5):544-51. Epub 2012 Jun 14 doi: 10.1262/jrd.2011-010. PMID: 22785219

FISH analysis of chromosome X, Y and 18 abnormalities in testicular sperm from azoospermic patients.

Mateizel I, Verheyen G, Van Assche E, Tournaye H, Liebaers I, Van Steirteghem A
Hum Reprod 2002 Sep;17(9):2249-57. doi: 10.1093/humrep/17.9.2249. PMID: 12202410

See all (5)

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Spermatogenic failure 58(SPGF58)

Definition

Clinical features

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

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