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Spermatogenic failure 55(SPGF55)

MedGen UID:
1781781
•Concept ID:
C5543580
•
Disease or Syndrome
Synonyms: SPERMATOGENIC FAILURE 55; SPGF55
 
Gene (location): SPAG17 (1p12)
 
Monarch Initiative: MONDO:0030307
OMIM®: 619380

Definition

Spermatogenic failure-55 (SPGF55) is characterized by male infertility due to asthenozoospermia, with severely reduced sperm motility (Xu et al., 2018). 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.
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

Recent clinical studies

Etiology

Genetic Architecture of Azoospermia-Time to Advance the Standard of Care.
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
The association between the two more common genetic causes of spermatogenic failure: a 7-year retrospective study.
Li HG, Fan LH, Liu B, Qian YQ, Chen M, Sun YX, Dong MY
Asian J Androl 2020 Nov-Dec;22(6):642-648. doi: 10.4103/aja.aja_13_20. PMID: 32362598Free 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
Association of a TDRD1 variant with spermatogenic failure susceptibility in the Han Chinese.
Zhu XB, Lu JQ, Zhi EL, Zhu Y, Zou SS, Zhu ZJ, Zhang F, Li Z
J Assist Reprod Genet 2016 Aug;33(8):1099-104. Epub 2016 May 27 doi: 10.1007/s10815-016-0738-9. PMID: 27233649Free PMC Article
Unravelling the genetics of spermatogenic failure.
Visser L, Repping S
Reproduction 2010 Feb;139(2):303-7. Epub 2009 Sep 23 doi: 10.1530/REP-09-0229. PMID: 19776097

Diagnosis

Undiagnosed RASopathies in infertile men.
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
Genetic Architecture of Azoospermia-Time to Advance the Standard of Care.
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
A homozygous loss-of-function mutation in FBXO43 causes human non-obstructive azoospermia.
Wu H, Zhang X, Shen Q, Liu Y, Gao Y, Wang G, Lv M, Hua R, Xu Y, Zhou P, Wei Z, Tao F, He X, Cao Y, Liu M
Clin Genet 2022 Jan;101(1):55-64. Epub 2021 Oct 11 doi: 10.1111/cge.14069. PMID: 34595750
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
Unravelling the genetics of spermatogenic failure.
Visser L, Repping S
Reproduction 2010 Feb;139(2):303-7. Epub 2009 Sep 23 doi: 10.1530/REP-09-0229. PMID: 19776097

Therapy

Risk Y-haplotypes and pathogenic variants of Arab-ancestry boys with autism by an exome-wide association study.
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
Screening of genes involved in chromosome segregation during meiosis I: toward the identification of genes responsible for infertility in humans.
Kogo H, Kowa-Sugiyama H, Yamada K, Bolor H, Tsutsumi M, Ohye T, Inagaki H, Taniguchi M, Toda T, Kurahashi H
J Hum Genet 2010 May;55(5):293-9. Epub 2010 Mar 26 doi: 10.1038/jhg.2010.26. PMID: 20339383
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
Contraceptive efficacy of a depot progestin and androgen combination in men.
Turner L, Conway AJ, Jimenez M, Liu PY, Forbes E, McLachlan RI, Handelsman DJ
J Clin Endocrinol Metab 2003 Oct;88(10):4659-67. doi: 10.1210/jc.2003-030107. PMID: 14557437

Prognosis

Genetic Architecture of Azoospermia-Time to Advance the Standard of Care.
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
In silico prediction of structure and functions for some proteins of male-specific region of the human Y chromosome.
Saha C, Polash AH, Islam MT, Shafrin F
Interdiscip Sci 2013 Dec;5(4):258-69. Epub 2014 Jan 10 doi: 10.1007/s12539-013-0178-5. PMID: 24402818

Clinical prediction guides

Genetic Architecture of Azoospermia-Time to Advance the Standard of Care.
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
In silico prediction of structure and functions for some proteins of male-specific region of the human Y chromosome.
Saha C, Polash AH, Islam MT, Shafrin F
Interdiscip Sci 2013 Dec;5(4):258-69. Epub 2014 Jan 10 doi: 10.1007/s12539-013-0178-5. PMID: 24402818
A significant effect of the TSPY1 copy number on spermatogenesis efficiency and the phenotypic expression of the gr/gr deletion.
Shen Y, Yan Y, Liu Y, Zhang S, Yang D, Zhang P, Li L, Wang Y, Ma Y, Tao D, Yang Y
Hum Mol Genet 2013 Apr 15;22(8):1679-95. Epub 2013 Jan 10 doi: 10.1093/hmg/ddt004. PMID: 23307928

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    • ClinVar
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    • OMIM
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    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
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      Related literature resources in PubMed

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