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Spermatogenic failure 9(SPGF9)

MedGen UID:
462757
Concept ID:
C3151407
Disease or Syndrome
Synonyms: GLOBOZOOSPERMIA, COMPLETE; GLOBOZOOSPERMIA, TOTAL; SPGF9
 
Gene (location): DPY19L2 (12q14.2)
 
Monarch Initiative: MONDO:0013505
OMIM®: 613958

Definition

Spermatogenic failure-9 (SPGF9) is associated with globozoospermia, a rare phenotype of primary male infertility characterized by the production of a majority of round-headed spermatozoa without an acrosome (summary by Harbuz et al., 2011). 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.
Globozoospermia
MedGen UID:
96048
Concept ID:
C0403825
Finding
Spermatogenic failure-6 (SPGF6) is a form of male infertility with globozoospermia. The acrosome is a unique structure of the mature spermatozoon, which plays an important role at the site of sperm-zonapellucida binding during the fertilization process. Globozoospermia (also called round-headed spermatozoa) is a human infertility syndrome caused by spermatogenesis defects (Lalonde et al., 1988, Singh, 1992). The most prominent feature of globozoospermia is the malformation of the acrosome and, in the most severe cases, the acrosome is totally absent. Globozoospermia is also characterized by abnormal nuclear shape as well as abnormal arrangement of the mitochondria of the spermatozoon (Battaglia et al., 1997). For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).

Professional guidelines

PubMed

Ding X, Zhu X
Sci Rep 2019 Jul 22;9(1):10543. doi: 10.1038/s41598-019-47076-w. PMID: 31332212Free PMC Article
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
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Recent clinical studies

Etiology

Wang X, Liu Q, Zhuang Z, Cheng J, Zhang W, Jiang Q, Guo Y, Li R, Lu X, Cui L, Weng J, Tang Y, Yue J, Gao S, Hong K, Qiao J, Jiang H, Guo J, Zhang Z
Cell Rep Med 2024 Sep 17;5(9):101709. Epub 2024 Sep 2 doi: 10.1016/j.xcrm.2024.101709. PMID: 39226895Free PMC Article
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: 36631630Free PMC Article
Kamiński P, Baszyński J, Jerzak I, Kavanagh BP, Nowacka-Chiari E, Polanin M, Szymański M, Woźniak A, Kozera W
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Visser L, Repping S
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Lange J, Skaletsky H, van Daalen SK, Embry SL, Korver CM, Brown LG, Oates RD, Silber S, Repping S, Page DC
Cell 2009 Sep 4;138(5):855-69. doi: 10.1016/j.cell.2009.07.042. PMID: 19737515Free PMC Article

Diagnosis

Wang X, Liu Q, Zhuang Z, Cheng J, Zhang W, Jiang Q, Guo Y, Li R, Lu X, Cui L, Weng J, Tang Y, Yue J, Gao S, Hong K, Qiao J, Jiang H, Guo J, Zhang Z
Cell Rep Med 2024 Sep 17;5(9):101709. Epub 2024 Sep 2 doi: 10.1016/j.xcrm.2024.101709. PMID: 39226895Free PMC Article
Juchnewitsch AG, Pomm K, Dutta A, Tamp E, Valkna A, Lillepea K, Mahyari E, Tjagur S, Belova G, Kübarsepp V, Castillo-Madeen H, Riera-Escamilla A, Põlluaas L, Nagirnaja L, Poolamets O, Vihljajev V, Sütt M, Versbraegen N, Papadimitriou S, McLachlan RI, Jarvi KA, Schlegel PN, Tennisberg S, Korrovits P, Vigh-Conrad K, O'Bryan MK, Aston KI, Lenaerts T, Conrad DF, Kasak L, Punab M, Laan M
Front Endocrinol (Lausanne) 2024;15:1312357. Epub 2024 Apr 9 doi: 10.3389/fendo.2024.1312357. PMID: 38654924Free PMC Article
Hardy J, Pollock N, Gingrich T, Sweet P, Ramesh A, Kuong J, Basar A, Jiang H, Hwang K, Vukina J, Jaffe T, Olszewska M, Kurpisz M, Yatsenko AN
J Assist Reprod Genet 2022 Sep;39(9):2103-2114. Epub 2022 Jul 18 doi: 10.1007/s10815-022-02538-5. PMID: 35849255Free PMC Article
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: 32722328Free PMC Article
Takeuchi T, Neri QV, Palermo GD
Ann N Y Acad Sci 2008 Apr;1127:64-6. doi: 10.1196/annals.1434.016. PMID: 18443331

Therapy

Kasak L, Lillepea K, Nagirnaja L, Aston KI, Schlegel PN, Gonçalves J, Carvalho F, Moreno-Mendoza D, Almstrup K, Eisenberg ML, Jarvi KA, O'Bryan MK, Lopes AM, Conrad DF; GEMINI Consortium, Punab M, Laan M
Hum Reprod 2022 Jun 30;37(7):1652-1663. doi: 10.1093/humrep/deac100. PMID: 35535697Free PMC Article
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
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: 32722328Free PMC Article
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
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Sciurano RB, Rahn MI, Rey-Valzacchi G, Coco R, Solari AJ
Int J Androl 2012 Aug;35(4):541-9. Epub 2011 Oct 7 doi: 10.1111/j.1365-2605.2011.01221.x. PMID: 21977946

Prognosis

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: 32573075Free PMC Article
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: 32554749Free 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
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Eur J Hum Genet 2013 Sep;21(9):1012-5. Epub 2013 Jan 9 doi: 10.1038/ejhg.2012.290. PMID: 23299922Free PMC Article
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

Clinical prediction guides

Radaelli E, Assenmacher CA, Verrelle J, Banerjee E, Manero F, Khiati S, Girona A, Lopez-Lluch G, Navas P, Spinazzi M
Elife 2023 Jul 28;12 doi: 10.7554/eLife.84710. PMID: 37505079Free PMC Article
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: 36631630Free PMC Article
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: 32573075Free PMC Article
Pandey LK, Pandey S, Gupta J, Saxena AK
Genet Mol Res 2010 Jun 29;9(2):1267-73. doi: 10.4238/vol9-2gmr836. PMID: 20603812
Lange J, Skaletsky H, van Daalen SK, Embry SL, Korver CM, Brown LG, Oates RD, Silber S, Repping S, Page DC
Cell 2009 Sep 4;138(5):855-69. doi: 10.1016/j.cell.2009.07.042. PMID: 19737515Free PMC Article

Recent systematic reviews

Clark I, Brougham MFH, Spears N, Mitchell RT
Hum Reprod Update 2023 Mar 1;29(2):233-245. doi: 10.1093/humupd/dmac039. PMID: 36495566Free PMC Article

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