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Spermatogenic failure 45(SPGF45)

MedGen UID:
1776221
•Concept ID:
C5436791
•
Disease or Syndrome
Synonyms: SPERMATOGENIC FAILURE 45; SPGF45
 
Gene (location): DNAH2 (17p13.1)
 
Monarch Initiative: MONDO:0033671
OMIM®: 619094

Definition

Spermatogenic failure-45 (SPGF45) is characterized by male infertility due to severe teratozoospermia. Sperm in affected men exhibit multiple morphologic abnormalities of the flagella (MMAF), including flagella that are short, absent, coiled, angulated, and/or of irregular caliber; some sperm also show abnormalities of the head. Ultrastructural analysis shows severe disruption of the axonemal complex and mitochondrial sheath (Li et al., 2019). 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:
98339
•Concept ID:
C0403823
•
Disease or Syndrome
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

Recent clinical studies

Etiology

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
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
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: 28874128Free PMC Article
Histological and hormonal testicular function in oligo/azoospermic infertile men.
Lardone MC, Piottante A, Valdevenito R, Ebensperger M, Castro A
Andrologia 2013 Dec;45(6):379-85. Epub 2012 Sep 26 doi: 10.1111/and.12026. PMID: 23013062
Genetics of spermatogenic failure.
Huang WJ, Yen PH
Sex Dev 2008;2(4-5):251-9. Epub 2008 Nov 5 doi: 10.1159/000152041. PMID: 18987499

Diagnosis

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
45,X karyotype in an infertile man: how is this possible?
Amaro A, Mafra FA, Valada Pane CE, Kulikowski LD, Bianco B, Barbosa CP, Christofolini DM
Urol Int 2015;94(4):488-90. Epub 2014 Aug 20 doi: 10.1159/000365010. PMID: 25170625
Truncating mutations in TAF4B and ZMYND15 causing recessive azoospermia.
Ayhan Ö, Balkan M, Guven A, Hazan R, Atar M, Tok A, Tolun A
J Med Genet 2014 Apr;51(4):239-44. Epub 2014 Jan 15 doi: 10.1136/jmedgenet-2013-102102. PMID: 24431330
Histological and hormonal testicular function in oligo/azoospermic infertile men.
Lardone MC, Piottante A, Valdevenito R, Ebensperger M, Castro A
Andrologia 2013 Dec;45(6):379-85. Epub 2012 Sep 26 doi: 10.1111/and.12026. PMID: 23013062
Identification of spermatozoa and round spermatids in the ejaculates of men with spermatogenic failure.
Hendin BN, Patel B, Levin HS, Thomas AJ Jr, Agarwal A
Urology 1998 May;51(5):816-9. doi: 10.1016/s0090-4295(98)00007-7. PMID: 9610597

Therapy

Primary male infertility in Kuwait: a cytogenetic and molecular study of 289 infertile Kuwaiti patients.
Mohammed F, Al-Yatama F, Al-Bader M, Tayel SM, Gouda S, Naguib KK
Andrologia 2007 Jun;39(3):87-92. doi: 10.1111/j.1439-0272.2007.00769.x. PMID: 17683468
Association of DAZL haplotypes with spermatogenic failure in infertile men.
Teng YN, Lin YM, Sun HF, Hsu PY, Chung CL, Kuo PL
Fertil Steril 2006 Jul;86(1):129-35. Epub 2006 May 30 doi: 10.1016/j.fertnstert.2005.12.027. PMID: 16730721

Prognosis

CHD7 missense variants and clinical characteristics of Chinese males with infertility.
Li L, Wang R, Yu Y, Zhang H, Jiang Y, Yang X, Liu R
Mol Genet Genomic Med 2020 Sep;8(9):e1372. Epub 2020 Jun 22 doi: 10.1002/mgg3.1372. PMID: 32573075Free PMC Article
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
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
45,X karyotype in an infertile man: how is this possible?
Amaro A, Mafra FA, Valada Pane CE, Kulikowski LD, Bianco B, Barbosa CP, Christofolini DM
Urol Int 2015;94(4):488-90. Epub 2014 Aug 20 doi: 10.1159/000365010. PMID: 25170625

Clinical prediction guides

CHD7 missense variants and clinical characteristics of Chinese males with infertility.
Li L, Wang R, Yu Y, Zhang H, Jiang Y, Yang X, Liu R
Mol Genet Genomic Med 2020 Sep;8(9):e1372. Epub 2020 Jun 22 doi: 10.1002/mgg3.1372. PMID: 32573075Free PMC Article
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
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
Histological and hormonal testicular function in oligo/azoospermic infertile men.
Lardone MC, Piottante A, Valdevenito R, Ebensperger M, Castro A
Andrologia 2013 Dec;45(6):379-85. Epub 2012 Sep 26 doi: 10.1111/and.12026. PMID: 23013062
Gonadotropin-regulated testicular RNA helicase (GRTH/DDX25): a multifunctional protein essential for spermatogenesis.
Tsai-Morris CH, Sheng Y, Gutti RK, Tang PZ, Dufau ML
J Androl 2010 Jan-Feb;31(1):45-52. Epub 2009 Oct 29 doi: 10.2164/jandrol.109.008219. PMID: 19875492Free PMC Article

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