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Spermatogenic failure 20(SPGF20)

MedGen UID:
1621256
•Concept ID:
C4539824
•
Disease or Syndrome
Synonyms: SPERMATOGENIC FAILURE 20; SPGF20
 
Gene (location): CFAP44 (3q13.2)
 
Monarch Initiative: MONDO:0054724
OMIM®: 617593

Definition

Spermatogenic failure-20 is characterized by multiple morphologic abnormalities of the flagella, including absent, short, coiled, bent, and irregular-caliber flagella (Tang et al., 2017). 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.
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

Professional guidelines

PubMed

In-vitro fertilization treatment for severe male factor: the fertilization potential of immotile spermatozoa obtained by testicular extraction.
Shulman A, Feldman B, Madgar I, Levron J, Mashiach S, Dor J
Hum Reprod 1999 Mar;14(3):749-52. doi: 10.1093/humrep/14.3.749. PMID: 10221708

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
Diverse monogenic subforms of human spermatogenic failure.
Nagirnaja L, Lopes AM, Charng WL, Miller B, Stakaitis R, Golubickaite I, Stendahl A, Luan T, Friedrich C, Mahyari E, Fadial E, Kasak L, Vigh-Conrad K, Oud MS, Xavier MJ, Cheers SR, James ER, Guo J, Jenkins TG, Riera-Escamilla A, Barros A, Carvalho F, Fernandes S, Gonçalves J, Gurnett CA, Jørgensen N, Jezek D, Jungheim ES, Kliesch S, McLachlan RI, Omurtag KR, Pilatz A, Sandlow JI, Smith J, Eisenberg ML, Hotaling JM, Jarvi KA, Punab M, Rajpert-De Meyts E, Carrell DT, Krausz C, Laan M, O'Bryan MK, Schlegel PN, Tüttelmann F, Veltman JA, Almstrup K, Aston KI, Conrad DF
Nat Commun 2022 Dec 26;13(1):7953. doi: 10.1038/s41467-022-35661-z. PMID: 36572685Free PMC Article
Monogenic causes of non-obstructive azoospermia: challenges, established knowledge, limitations and perspectives.
Kasak L, Laan M
Hum Genet 2021 Jan;140(1):135-154. Epub 2020 Jan 18 doi: 10.1007/s00439-020-02112-y. PMID: 31955275
Spermatogenic failure and the Y chromosome.
Krausz C, Casamonti E
Hum Genet 2017 May;136(5):637-655. Epub 2017 Apr 29 doi: 10.1007/s00439-017-1793-8. PMID: 28456834
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

Diagnosis

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
Diverse monogenic subforms of human spermatogenic failure.
Nagirnaja L, Lopes AM, Charng WL, Miller B, Stakaitis R, Golubickaite I, Stendahl A, Luan T, Friedrich C, Mahyari E, Fadial E, Kasak L, Vigh-Conrad K, Oud MS, Xavier MJ, Cheers SR, James ER, Guo J, Jenkins TG, Riera-Escamilla A, Barros A, Carvalho F, Fernandes S, Gonçalves J, Gurnett CA, Jørgensen N, Jezek D, Jungheim ES, Kliesch S, McLachlan RI, Omurtag KR, Pilatz A, Sandlow JI, Smith J, Eisenberg ML, Hotaling JM, Jarvi KA, Punab M, Rajpert-De Meyts E, Carrell DT, Krausz C, Laan M, O'Bryan MK, Schlegel PN, Tüttelmann F, Veltman JA, Almstrup K, Aston KI, Conrad DF
Nat Commun 2022 Dec 26;13(1):7953. doi: 10.1038/s41467-022-35661-z. PMID: 36572685Free PMC Article
Translational aspects of novel findings in genetics of male infertility-status quo 2021.
Laan M, Kasak L, Punab M
Br Med Bull 2021 Dec 16;140(1):5-22. doi: 10.1093/bmb/ldab025. PMID: 34755838Free PMC Article
Spermatogenic failure and the Y chromosome.
Krausz C, Casamonti E
Hum Genet 2017 May;136(5):637-655. Epub 2017 Apr 29 doi: 10.1007/s00439-017-1793-8. PMID: 28456834
Copy number variations in spermatogenic failure patients with chromosomal abnormalities and unexplained azoospermia.
Dong Y, Pan Y, Wang R, Zhang Z, Xi Q, Liu RZ
Genet Mol Res 2015 Dec 7;14(4):16041-9. doi: 10.4238/2015.December.7.17. PMID: 26662397

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
Exome-based search for recurrent disease-causing alleles in Russian population.
Yanus GA, Akhapkina TA, Whitehead AJ, Bizin IV, Iyevleva AG, Kuligina ES, Aleksakhina SN, Anisimova MO, Holmatov MM, Romanko AA, Zaitseva OA, Yatsuk OS, Zagorodnev KA, Matsneva MA, Koloskov AV, Togo AV, Suspitsin EN, Imyanitov EN
Eur J Med Genet 2019 Jul;62(7):103656. Epub 2019 Apr 24 doi: 10.1016/j.ejmg.2019.04.013. PMID: 31028847
Genetics of human male infertility.
Poongothai J, Gopenath TS, Manonayaki S
Singapore Med J 2009 Apr;50(4):336-47. PMID: 19421675
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
Varicocele repair improves semen parameters in azoospermic men with spermatogenic failure.
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

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
Monogenic causes of non-obstructive azoospermia: challenges, established knowledge, limitations and perspectives.
Kasak L, Laan M
Hum Genet 2021 Jan;140(1):135-154. Epub 2020 Jan 18 doi: 10.1007/s00439-020-02112-y. PMID: 31955275
Stem Cell Factor Receptor Immunoexpression in Adolescent Varicocele.
Arena S, Impellizzeri P, Fazzari C, Peri Flora M, Enrica A, Calabrese U, Centorrino A, Alibrandi A, Romeo C
Urol J 2020 Jun 23;17(4):391-396. doi: 10.22037/uj.v0i0.5351. PMID: 32207142
Decrease in semen quality and Leydig cell function in infertile men: a longitudinal study.
Olesen IA, Joensen UN, Petersen JH, Almstrup K, Rajpert-De Meyts E, Carlsen E, McLachlan R, Juul A, Jørgensen N
Hum Reprod 2018 Nov 1;33(11):1963-1974. doi: 10.1093/humrep/dey283. PMID: 30247578
Spermatogenic failure and the Y chromosome.
Krausz C, Casamonti E
Hum Genet 2017 May;136(5):637-655. Epub 2017 Apr 29 doi: 10.1007/s00439-017-1793-8. PMID: 28456834

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
Monogenic causes of non-obstructive azoospermia: challenges, established knowledge, limitations and perspectives.
Kasak L, Laan M
Hum Genet 2021 Jan;140(1):135-154. Epub 2020 Jan 18 doi: 10.1007/s00439-020-02112-y. PMID: 31955275
Stem Cell Factor Receptor Immunoexpression in Adolescent Varicocele.
Arena S, Impellizzeri P, Fazzari C, Peri Flora M, Enrica A, Calabrese U, Centorrino A, Alibrandi A, Romeo C
Urol J 2020 Jun 23;17(4):391-396. doi: 10.22037/uj.v0i0.5351. PMID: 32207142
Spermatogenic failure and the Y chromosome.
Krausz C, Casamonti E
Hum Genet 2017 May;136(5):637-655. Epub 2017 Apr 29 doi: 10.1007/s00439-017-1793-8. PMID: 28456834
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

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    • ClinVar
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      Related information in GTR
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      Clinical tests in GTR
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      Related records in OMIM
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      OMIM records containing genes associated with phenotypes registered in MedGen

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