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Spermatogenic failure 18(SPGF18)

MedGen UID:
1617309
•Concept ID:
C4539783
•
Disease or Syndrome
Synonyms: SPERMATOGENIC FAILURE 18; SPGF18
 
Gene (location): DNAH1 (3p21.1)
 
Monarch Initiative: MONDO:0054615
OMIM®: 617576

Definition

Spermatogenic failure-18 (SPGF18) is a form of male infertility caused by multiple morphologic abnormalities of the sperm flagella (Ben Khelifa et al., 2014). For 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.
See: Feature record | Search on this feature
Reduced sperm motility
MedGen UID:
907698
•Concept ID:
C4082176
•
Finding
An abnormal reduction in the mobility of ejaculated sperm.
See: Feature record | Search on this feature
Absent sperm flagella
MedGen UID:
1623855
•Concept ID:
C4539786
•
Finding
Sperm cells lacking flagella.
See: Feature record | Search on this feature
Short sperm flagella
MedGen UID:
1623693
•Concept ID:
C4539787
•
Finding
Sperm cells with abnormally short flagella.
See: Feature record | Search on this feature
Coiled sperm flagella
MedGen UID:
1611216
•Concept ID:
C4539789
•
Finding
Sperm cells whose flagella are twisted (coiled).
See: Feature record | Search on this feature
Irregularly shaped sperm tail
MedGen UID:
1687959
•Concept ID:
C5233737
•
Finding
Irregular or changing caliber (diameter) along the tail of the sperm.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Toward clinical exomes in diagnostics and management of male infertility.
Lillepea K, Juchnewitsch AG, Kasak L, Valkna A, Dutta A, Pomm K, Poolamets O, Nagirnaja L, Tamp E, Mahyari E, Vihljajev V, Tjagur S, Papadimitriou S, Riera-Escamilla A, Versbraegen N, Farnetani G, Castillo-Madeen H, Sütt M, Kübarsepp V, Tennisberg S, Korrovits P, Krausz C, Aston KI, Lenaerts T, Conrad DF, Punab M, Laan M
Am J Hum Genet 2024 May 2;111(5):877-895. Epub 2024 Apr 12 doi: 10.1016/j.ajhg.2024.03.013. PMID: 38614076Free PMC Article
Population study of causes, treatment, and outcome of infertility.
Hull MG, Glazener CM, Kelly NJ, Conway DI, Foster PA, Hinton RA, Coulson C, Lambert PA, Watt EM, Desai KM
Br Med J (Clin Res Ed) 1985 Dec 14;291(6510):1693-7. doi: 10.1136/bmj.291.6510.1693. PMID: 3935248Free PMC Article

Recent clinical studies

Etiology

Toward clinical exomes in diagnostics and management of male infertility.
Lillepea K, Juchnewitsch AG, Kasak L, Valkna A, Dutta A, Pomm K, Poolamets O, Nagirnaja L, Tamp E, Mahyari E, Vihljajev V, Tjagur S, Papadimitriou S, Riera-Escamilla A, Versbraegen N, Farnetani G, Castillo-Madeen H, Sütt M, Kübarsepp V, Tennisberg S, Korrovits P, Krausz C, Aston KI, Lenaerts T, Conrad DF, Punab M, Laan M
Am J Hum Genet 2024 May 2;111(5):877-895. Epub 2024 Apr 12 doi: 10.1016/j.ajhg.2024.03.013. PMID: 38614076Free PMC Article
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: 36631630Free PMC Article
Post-thaw recovery of rare or very low concentrations of cryopreserved human sperm.
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
Association of polymorphisms of A260G and A386G in DAZL gene with male infertility: a meta-analysis and systemic review.
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
Klinefelter syndrome and TESE-ICSI.
Plotton I, Brosse A, Cuzin B, Lejeune H
Ann Endocrinol (Paris) 2014 May;75(2):118-25. Epub 2014 Apr 29 doi: 10.1016/j.ando.2014.04.004. PMID: 24786702

Diagnosis

Toward clinical exomes in diagnostics and management of male infertility.
Lillepea K, Juchnewitsch AG, Kasak L, Valkna A, Dutta A, Pomm K, Poolamets O, Nagirnaja L, Tamp E, Mahyari E, Vihljajev V, Tjagur S, Papadimitriou S, Riera-Escamilla A, Versbraegen N, Farnetani G, Castillo-Madeen H, Sütt M, Kübarsepp V, Tennisberg S, Korrovits P, Krausz C, Aston KI, Lenaerts T, Conrad DF, Punab M, Laan M
Am J Hum Genet 2024 May 2;111(5):877-895. Epub 2024 Apr 12 doi: 10.1016/j.ajhg.2024.03.013. PMID: 38614076Free PMC Article
Whole exome data prioritization unveils the hidden weight of Mendelian causes of male infertility. A report from the first Italian cohort.
Quarantani G, Sorgente A, Alfano M, Pipitone GB, Boeri L, Pozzi E, Belladelli F, Pederzoli F, Ferrara AM, Montorsi F, Moles A, Carrera P, Salonia A, Casari G
PLoS One 2023;18(8):e0288336. Epub 2023 Aug 4 doi: 10.1371/journal.pone.0288336. PMID: 37540677Free PMC Article
Detection of chlamydia infection within human testicular biopsies.
Bryan ER, McLachlan RI, Rombauts L, Katz DJ, Yazdani A, Bogoevski K, Chang C, Giles ML, Carey AJ, Armitage CW, Trim LK, McLaughlin EA, Beagley KW
Hum Reprod 2019 Oct 2;34(10):1891-1898. doi: 10.1093/humrep/dez169. PMID: 31586185Free PMC Article
New concepts in Klinefelter syndrome.
Paduch DA, Fine RG, Bolyakov A, Kiper J
Curr Opin Urol 2008 Nov;18(6):621-7. doi: 10.1097/MOU.0b013e32831367c7. PMID: 18832949
Genetic concerns for the subfertile male in the era of ICSI.
Kim ED, Bischoff FZ, Lipshultz LI, Lamb DJ
Prenat Diagn 1998 Dec;18(13):1349-65. PMID: 9949435

Therapy

Microdissection testicular sperm extraction (micro-TESE) in men with infertility due to nonobstructive azoospermia: summary of current literature.
Achermann APP, Pereira TA, Esteves SC
Int Urol Nephrol 2021 Nov;53(11):2193-2210. Epub 2021 Aug 19 doi: 10.1007/s11255-021-02979-4. PMID: 34410586
Klinefelter syndrome and TESE-ICSI.
Plotton I, Brosse A, Cuzin B, Lejeune H
Ann Endocrinol (Paris) 2014 May;75(2):118-25. Epub 2014 Apr 29 doi: 10.1016/j.ando.2014.04.004. PMID: 24786702
New concepts in Klinefelter syndrome.
Paduch DA, Fine RG, Bolyakov A, Kiper J
Curr Opin Urol 2008 Nov;18(6):621-7. doi: 10.1097/MOU.0b013e32831367c7. PMID: 18832949
Propecia-induced spermatogenic failure: a report of two cases.
Liu KE, Binsaleh S, Lo KC, Jarvi K
Fertil Steril 2008 Sep;90(3):849.e17-9. Epub 2007 Dec 11 doi: 10.1016/j.fertnstert.2007.08.026. PMID: 18054928
Recovery of sperm production following the cessation of gossypol treatment: a two-centre study in China.
Meng GD, Zhu JC, Chen ZW, Wong LT, Zhang GY, Hu YZ, Ding JH, Wang XH, Qian SZ, Wang C
Int J Androl 1988 Feb;11(1):1-11. doi: 10.1111/j.1365-2605.1988.tb01211.x. PMID: 3356480

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
Y-chromosome AZFc structural architecture and relationship to male fertility.
Ravel C, Chantot-Bastaraud S, El Houate B, Rouba H, Legendre M, Lorenço D, Mandelbaum J, Siffroi JP, McElreavey K
Fertil Steril 2009 Dec;92(6):1924-33. Epub 2008 Nov 6 doi: 10.1016/j.fertnstert.2008.08.135. PMID: 18990391
Recovery of sperm production following the cessation of gossypol treatment: a two-centre study in China.
Meng GD, Zhu JC, Chen ZW, Wong LT, Zhang GY, Hu YZ, Ding JH, Wang XH, Qian SZ, Wang C
Int J Androl 1988 Feb;11(1):1-11. doi: 10.1111/j.1365-2605.1988.tb01211.x. PMID: 3356480
Follow-up of men in the recovery period immediately after the cessation of gossypol treatment.
Meng GD, Zhu JC, Chen ZW, Wong LT, Zhang GY, Hu YZ, Ding JH, Wang XH, Qian SZ, Wang C
Contraception 1988 Feb;37(2):119-28. doi: 10.1016/0010-7824(88)90122-9. PMID: 3131064
Population study of causes, treatment, and outcome of infertility.
Hull MG, Glazener CM, Kelly NJ, Conway DI, Foster PA, Hinton RA, Coulson C, Lambert PA, Watt EM, Desai KM
Br Med J (Clin Res Ed) 1985 Dec 14;291(6510):1693-7. doi: 10.1136/bmj.291.6510.1693. PMID: 3935248Free PMC Article

Clinical prediction guides

Toward clinical exomes in diagnostics and management of male infertility.
Lillepea K, Juchnewitsch AG, Kasak L, Valkna A, Dutta A, Pomm K, Poolamets O, Nagirnaja L, Tamp E, Mahyari E, Vihljajev V, Tjagur S, Papadimitriou S, Riera-Escamilla A, Versbraegen N, Farnetani G, Castillo-Madeen H, Sütt M, Kübarsepp V, Tennisberg S, Korrovits P, Krausz C, Aston KI, Lenaerts T, Conrad DF, Punab M, Laan M
Am J Hum Genet 2024 May 2;111(5):877-895. Epub 2024 Apr 12 doi: 10.1016/j.ajhg.2024.03.013. PMID: 38614076Free PMC Article
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: 36631630Free PMC Article
Factor V Leiden is associated with increased sperm count.
van Mens TE, Joensen UN, Bochdanovits Z, Takizawa A, Peter J, Jørgensen N, Szecsi PB, Meijers JCM, Weiler H, Rajpert-De Meyts E, Repping S, Middeldorp S
Hum Reprod 2017 Nov 1;32(11):2332-2339. doi: 10.1093/humrep/dex287. PMID: 28927238
AZFc deletions and spermatogenic failure: a population-based survey of 20,000 Y chromosomes.
Rozen SG, Marszalek JD, Irenze K, Skaletsky H, Brown LG, Oates RD, Silber SJ, Ardlie K, Page DC
Am J Hum Genet 2012 Nov 2;91(5):890-6. Epub 2012 Oct 25 doi: 10.1016/j.ajhg.2012.09.003. PMID: 23103232Free PMC Article
A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region.
Repping S, van Daalen SK, Korver CM, Brown LG, Marszalek JD, Gianotten J, Oates RD, Silber S, van der Veen F, Page DC, Rozen S
Genomics 2004 Jun;83(6):1046-52. doi: 10.1016/j.ygeno.2003.12.018. PMID: 15177557

Recent systematic reviews

Association of polymorphisms of A260G and A386G in DAZL gene with male infertility: a meta-analysis and systemic review.
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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