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Spermatogenic failure 58(SPGF58)

MedGen UID:
1794218
Concept ID:
C5562008
Disease or Syndrome
Synonyms: SPERMATOGENIC FAILURE 58; SPGF58
 
Gene (location): 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.
Oligospermia
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.
Immotile sperm
MedGen UID:
701339
Concept ID:
C1278278
Finding
A lack of mobility of ejaculated sperm.
Short sperm flagella
MedGen UID:
1623693
Concept ID:
C4539787
Finding
Sperm cells with abnormally short flagella.
Irregularly shaped sperm tail
MedGen UID:
1687959
Concept ID:
C5233737
Finding
Irregular or changing caliber (diameter) along the tail of the sperm.
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.

Recent clinical studies

Etiology

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
Kathrins M, Abhyankar N, Shoshany O, Liebermann J, Uhler M, Prins G, Niederberger C
Fertil Steril 2017 Jun;107(6):1300-1304. Epub 2017 May 5 doi: 10.1016/j.fertnstert.2017.04.016. PMID: 28483505
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
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
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

Diagnosis

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
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
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
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

Prognosis

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

Clinical prediction guides

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: 32673564Free PMC Article
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
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
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
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

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