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Spermatogenic failure 46(SPGF46)

MedGen UID:: 1726728
•Concept ID:: C5436799
•: Disease or Syndrome

Synonyms:	SPERMATOGENIC FAILURE 46; SPGF46

Gene (location): Gene(s) directly associated with this condition or phenotype.	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.

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Reduced sperm motility

MedGen UID:: 907698
•Concept ID:: C4082176
•: Finding

An abnormal reduction in the mobility of ejaculated sperm.

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Absent sperm flagella

MedGen UID:: 1623855
•Concept ID:: C4539786
•: Finding

Sperm cells lacking flagella.

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Short sperm flagella

MedGen UID:: 1623693
•Concept ID:: C4539787
•: Finding

Sperm cells with abnormally short flagella.

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Coiled sperm flagella

MedGen UID:: 1611216
•Concept ID:: C4539789
•: Finding

Sperm cells whose flagella are twisted (coiled).

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Irregularly shaped sperm tail

MedGen UID:: 1687959
•Concept ID:: C5233737
•: Finding

Irregular or changing caliber (diameter) along the tail of the sperm.

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Abnormality of the genitourinary system

Recent clinical studies

Etiology

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

Relationship of genetic causes and inhibin B in non obstructive azoospermia spermatogenic failure.

Chu QJ, Hua R, Luo C, Chen QJ, Wu B, Quan S, Zhu YT
BMC Med Genet 2017 Sep 6;18(1):98. doi: 10.1186/s12881-017-0456-x. PMID: 28874128 Free 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

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

See all (16)

Diagnosis

Systematic molecular analyses for 115 karyotypically normal men with isolated non-obstructive azoospermia.

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: 35849255 Free 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: 33454900 Free PMC Article

Intronic variation of the SOHLH2 gene confers risk to male reproductive impairment.

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

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Therapy

Systematic molecular analyses for 115 karyotypically normal men with isolated non-obstructive azoospermia.

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

See all (4)

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: 23299922 Free 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

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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: 36626513 Free PMC Article

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

Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1.

Bashamboo A, Ferraz-de-Souza B, Lourenço D, Lin L, Sebire NJ, Montjean D, Bignon-Topalovic J, Mandelbaum J, Siffroi JP, Christin-Maitre S, Radhakrishna U, Rouba H, Ravel C, Seeler J, Achermann JC, McElreavey K
Am J Hum Genet 2010 Oct 8;87(4):505-12. doi: 10.1016/j.ajhg.2010.09.009. PMID: 20887963 Free PMC Article

See all (13)

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Spermatogenic failure 46(SPGF46)

Definition

Clinical features

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

Consumer resources

Reviews

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