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Spermatogenic failure 85(SPGF85)

MedGen UID:
1849976
Concept ID:
C5882685
Disease or Syndrome
Synonym: SPGF85
 
Gene (location): SPACA1 (6q15)
 
Monarch Initiative: MONDO:0957584
OMIM®: 620490

Definition

Spermatogenic failure-85 (SPGF85) is characterized by male infertility due to globozoospermia and reduced progressive motility (Chen 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.
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).
Acephalic spermatozoa
MedGen UID:
868304
Concept ID:
C4022698
Disease or Syndrome
Spermatozoa with very small cranial ends devoid of any nuclear material, that is, lacking a typical sperm head.
Coiled sperm flagella
MedGen UID:
1611216
Concept ID:
C4539789
Finding
Sperm cells whose flagella are twisted (coiled).
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

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
Ghorbel M, Baklouti-Gargouri S, Keskes R, Sellami A, McElreavy K, Ammar-Keskes L
Hum Fertil (Camb) 2023 Dec;26(5):1238-1247. Epub 2023 Jan 2 doi: 10.1080/14647273.2022.2163194. PMID: 36591797
Wyrwoll MJ, Köckerling N, Vockel M, Dicke AK, Rotte N, Pohl E, Emich J, Wöste M, Ruckert C, Wabschke R, Seggewiss J, Ledig S, Tewes AC, Stratis Y, Cremers JF, Wistuba J, Krallmann C, Kliesch S, Röpke A, Stallmeyer B, Friedrich C, Tüttelmann F
Eur Urol 2023 May;83(5):452-462. Epub 2022 Jun 8 doi: 10.1016/j.eururo.2022.05.011. PMID: 35690514
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
Chen P, Wang X, Xu C, Xiao H, Zhang WH, Wang XH, Zhang XH
Asian J Androl 2016 Jan-Feb;18(1):96-101. doi: 10.4103/1008-682X.153542. PMID: 25994644Free PMC Article

Diagnosis

Wyrwoll MJ, Köckerling N, Vockel M, Dicke AK, Rotte N, Pohl E, Emich J, Wöste M, Ruckert C, Wabschke R, Seggewiss J, Ledig S, Tewes AC, Stratis Y, Cremers JF, Wistuba J, Krallmann C, Kliesch S, Röpke A, Stallmeyer B, Friedrich C, Tüttelmann F
Eur Urol 2023 May;83(5):452-462. Epub 2022 Jun 8 doi: 10.1016/j.eururo.2022.05.011. PMID: 35690514
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
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
Hashemi MS, Mozdarani H, Ghaedi K, Nasr-Esfahani MH
Andrology 2018 Nov;6(6):890-895. Epub 2018 Jul 27 doi: 10.1111/andr.12528. PMID: 30054974
Bohring C, Krause W
Andrologia 1999 May;31(3):137-41. PMID: 10363117

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
Andreassi MG, Borghini A, Vecoli C, Piccaluga E, Guagliumi G, Del Greco M, Gaita F, Picano E
Environ Mol Mutagen 2020 Mar;61(3):361-368. Epub 2019 Oct 25 doi: 10.1002/em.22341. PMID: 31605552
Eckardstein SV, Schmidt A, Kamischke A, Simoni M, Gromoll J, Nieschlag E
Clin Endocrinol (Oxf) 2002 Nov;57(5):647-55. doi: 10.1046/j.1365-2265.2002.01652.x. PMID: 12390340

Prognosis

Wyrwoll MJ, Köckerling N, Vockel M, Dicke AK, Rotte N, Pohl E, Emich J, Wöste M, Ruckert C, Wabschke R, Seggewiss J, Ledig S, Tewes AC, Stratis Y, Cremers JF, Wistuba J, Krallmann C, Kliesch S, Röpke A, Stallmeyer B, Friedrich C, Tüttelmann F
Eur Urol 2023 May;83(5):452-462. Epub 2022 Jun 8 doi: 10.1016/j.eururo.2022.05.011. PMID: 35690514
Hashemi MS, Mozdarani H, Ghaedi K, Nasr-Esfahani MH
Andrology 2018 Nov;6(6):890-895. Epub 2018 Jul 27 doi: 10.1111/andr.12528. PMID: 30054974
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
Bohring C, Krause W
Andrologia 1999 May;31(3):137-41. PMID: 10363117

Clinical prediction guides

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
Wyrwoll MJ, Köckerling N, Vockel M, Dicke AK, Rotte N, Pohl E, Emich J, Wöste M, Ruckert C, Wabschke R, Seggewiss J, Ledig S, Tewes AC, Stratis Y, Cremers JF, Wistuba J, Krallmann C, Kliesch S, Röpke A, Stallmeyer B, Friedrich C, Tüttelmann F
Eur Urol 2023 May;83(5):452-462. Epub 2022 Jun 8 doi: 10.1016/j.eururo.2022.05.011. PMID: 35690514
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
Hashemi MS, Mozdarani H, Ghaedi K, Nasr-Esfahani MH
Andrology 2018 Nov;6(6):890-895. Epub 2018 Jul 27 doi: 10.1111/andr.12528. PMID: 30054974
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

Recent systematic reviews

Chen P, Wang X, Xu C, Xiao H, Zhang WH, Wang XH, Zhang XH
Asian J Androl 2016 Jan-Feb;18(1):96-101. doi: 10.4103/1008-682X.153542. PMID: 25994644Free PMC Article

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