U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Spermatogenic failure 46(SPGF46)

MedGen UID:
1726728
•Concept ID:
C5436799
•
Disease or Syndrome
Synonyms: SPERMATOGENIC FAILURE 46; SPGF46
 
Gene (location): DNAH8 (6p21.2)
 
Monarch Initiative: MONDO:0033673
OMIM®: 619095

Definition

Spermatogenic failure-46 (SPGF46) is characterized by male infertility due to asthenoteratozoospermia. Sperm of affected men exhibit multiple morphologic abnormalities of the flagella (MMAF), including flagella that are absent, short, coiled, angulated, and/or of irregular caliber. Ultrastructural analysis shows disorganization of axonemal and periaxonemal structures (Liu et al., 2020). 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

Recent clinical studies

Etiology

Decoding the pathogenesis of spermatogenic failure in cryptorchidism through single-cell transcriptomic profiling.
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
Systematic molecular analyses for 115 karyotypically normal men with isolated non-obstructive azoospermia.
Muranishi Y, Kobori Y, Katoh-Fukui Y, Tamaoka S, Hattori A, Osaka A, Okada H, Nakabayashi K, Hata K, Kawai T, Ogata-Kawata H, Iwahata T, Saito K, Kon M, Shinohara N, Fukami M
Hum Reprod 2024 May 2;39(5):1131-1140. doi: 10.1093/humrep/deae057. PMID: 38511217
Intronic variation of the SOHLH2 gene confers risk to male reproductive impairment.
Cerván-Martín M, Suazo-Sánchez MI, Rivera-Egea R, Garrido N, Luján S, Romeu G, Santos-Ribeiro S, Castilla JA, Gonzalvo MC, Clavero A, Vicente FJ, Maldonado V, Burgos M, Barrionuevo FJ, Jiménez R, Sánchez-Curbelo J, López-Rodrigo O, Peraza MF, Pereira-Caetano I, Marques PI, Carvalho F, Barros A, Bassas L, Seixas S, Gonçalves J, Larriba S, Lopes AM, Palomino-Morales RJ, Carmona FD; Lisbon Clinical Group; IVIRMA Group
Fertil Steril 2020 Aug;114(2):398-406. Epub 2020 Jul 18 doi: 10.1016/j.fertnstert.2020.02.115. PMID: 32690270
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
Quantitative histological analysis and ultrastructure of the aging human testis.
Jiang H, Zhu WJ, Li J, Chen QJ, Liang WB, Gu YQ
Int Urol Nephrol 2014 May;46(5):879-85. Epub 2013 Nov 26 doi: 10.1007/s11255-013-0610-0. PMID: 24277275

Diagnosis

Decoding the pathogenesis of spermatogenic failure in cryptorchidism through single-cell transcriptomic profiling.
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
Systematic molecular analyses for 115 karyotypically normal men with isolated non-obstructive azoospermia.
Muranishi Y, Kobori Y, Katoh-Fukui Y, Tamaoka S, Hattori A, Osaka A, Okada H, Nakabayashi K, Hata K, Kawai T, Ogata-Kawata H, Iwahata T, Saito K, Kon M, Shinohara N, Fukami M
Hum Reprod 2024 May 2;39(5):1131-1140. doi: 10.1093/humrep/deae057. PMID: 38511217
Genomic testing for copy number and single nucleotide variants in spermatogenic failure.
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
Y chromosome structural variation in infertile men detected by targeted next-generation sequencing.
Liu X, Zhang H, Zhang X, Zhang H, Jiang Y, Liu R, Fei J, Wang Y, Yu Y
J Assist Reprod Genet 2021 Apr;38(4):941-948. Epub 2021 Jan 16 doi: 10.1007/s10815-020-02031-x. PMID: 33454900Free PMC Article
MECHANISMS IN ENDOCRINOLOGY: Aberrations of the X chromosome as cause of male infertility.
Röpke A, Tüttelmann F
Eur J Endocrinol 2017 Nov;177(5):R249-R259. Epub 2017 Jun 13 doi: 10.1530/EJE-17-0246. PMID: 28611019

Therapy

Systematic molecular analyses for 115 karyotypically normal men with isolated non-obstructive azoospermia.
Muranishi Y, Kobori Y, Katoh-Fukui Y, Tamaoka S, Hattori A, Osaka A, Okada H, Nakabayashi K, Hata K, Kawai T, Ogata-Kawata H, Iwahata T, Saito K, Kon M, Shinohara N, Fukami M
Hum Reprod 2024 May 2;39(5):1131-1140. doi: 10.1093/humrep/deae057. PMID: 38511217
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
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

Predictors of surgical sperm retrieval in non-obstructive azoospermia: summary of current literature.
Arshad MA, Majzoub A, Esteves SC
Int Urol Nephrol 2020 Nov;52(11):2015-2038. Epub 2020 Jun 9 doi: 10.1007/s11255-020-02529-4. PMID: 32519242
Molecular‑cytogenetic study of de novo mosaic karyotype 45,X/46,X,i(Yq)/46,X,idic(Yq) in an azoospermic male: Case report and literature review.
Jiang Y, Wang R, Li L, Xue L, Deng S, Liu R
Mol Med Rep 2017 Sep;16(3):3433-3438. Epub 2017 Jul 14 doi: 10.3892/mmr.2017.6981. PMID: 28713994
Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males.
Röpke A, Tewes AC, Gromoll J, Kliesch S, Wieacker P, Tüttelmann F
Eur J Hum Genet 2013 Sep;21(9):1012-5. Epub 2013 Jan 9 doi: 10.1038/ejhg.2012.290. PMID: 23299922Free PMC Article
Sperm DNA fragmentation levels in testicular sperm samples from azoospermic males as assessed by the sperm chromatin dispersion (SCD) test.
Meseguer M, Santiso R, Garrido N, Gil-Salom M, Remohí J, Fernandez JL
Fertil Steril 2009 Nov;92(5):1638-45. Epub 2008 Nov 11 doi: 10.1016/j.fertnstert.2008.08.106. PMID: 19006791
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

Clinical prediction guides

Fertility problems in men carrying a translocation involved in breakpoints on chromosome 17p13: A retrospective, observational study.
Li R
Medicine (Baltimore) 2022 Dec 9;101(49):e32216. doi: 10.1097/MD.0000000000032216. PMID: 36626513Free PMC Article
Intronic variation of the SOHLH2 gene confers risk to male reproductive impairment.
Cerván-Martín M, Suazo-Sánchez MI, Rivera-Egea R, Garrido N, Luján S, Romeu G, Santos-Ribeiro S, Castilla JA, Gonzalvo MC, Clavero A, Vicente FJ, Maldonado V, Burgos M, Barrionuevo FJ, Jiménez R, Sánchez-Curbelo J, López-Rodrigo O, Peraza MF, Pereira-Caetano I, Marques PI, Carvalho F, Barros A, Bassas L, Seixas S, Gonçalves J, Larriba S, Lopes AM, Palomino-Morales RJ, Carmona FD; Lisbon Clinical Group; IVIRMA Group
Fertil Steril 2020 Aug;114(2):398-406. Epub 2020 Jul 18 doi: 10.1016/j.fertnstert.2020.02.115. PMID: 32690270
Predictors of surgical sperm retrieval in non-obstructive azoospermia: summary of current literature.
Arshad MA, Majzoub A, Esteves SC
Int Urol Nephrol 2020 Nov;52(11):2015-2038. Epub 2020 Jun 9 doi: 10.1007/s11255-020-02529-4. PMID: 32519242
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
Molecular‑cytogenetic study of de novo mosaic karyotype 45,X/46,X,i(Yq)/46,X,idic(Yq) in an azoospermic male: Case report and literature review.
Jiang Y, Wang R, Li L, Xue L, Deng S, Liu R
Mol Med Rep 2017 Sep;16(3):3433-3438. Epub 2017 Jul 14 doi: 10.3892/mmr.2017.6981. PMID: 28713994

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...