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Spermatogenic failure 33(SPGF33)

MedGen UID:
1648473
•Concept ID:
C4748395
•
Disease or Syndrome
Synonyms: SPERMATOGENIC FAILURE 33; SPGF33
 
Gene (location): CFAP251 (12q24.31)
 
Monarch Initiative: MONDO:0029147
OMIM®: 618152

Definition

Spermatogenic failure-33 (SPGF33) is characterized by multiple morphologic abnormalities of the flagella (MMAF), resulting in immotile spermatozoa and infertility. Short and irregular-caliber flagella are primarily observed, as well as absent and coiled flagella, and abnormalities of the acrosome, head, and base are also present (Kherraf et al., 2018). 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
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

Professional guidelines

PubMed

Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory.
Lo Giacco D, Chianese C, Sánchez-Curbelo J, Bassas L, Ruiz P, Rajmil O, Sarquella J, Vives A, Ruiz-Castañé E, Oliva R, Ars E, Krausz C
Eur J Hum Genet 2014 Jun;22(6):754-61. Epub 2013 Nov 6 doi: 10.1038/ejhg.2013.253. PMID: 24193344Free PMC Article

Recent clinical studies

Etiology

A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships.
Houston BJ, Riera-Escamilla A, Wyrwoll MJ, Salas-Huetos A, Xavier MJ, Nagirnaja L, Friedrich C, Conrad DF, Aston KI, Krausz C, Tüttelmann F, O'Bryan MK, Veltman JA, Oud MS
Hum Reprod Update 2021 Dec 21;28(1):15-29. doi: 10.1093/humupd/dmab030. PMID: 34498060Free PMC Article
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
Leydig cell dysfunction is associated with post-transcriptional deregulation of CYP17A1 in men with Sertoli cell-only syndrome.
Lardone MC, Argandoña F, Lorca M, Piottante A, Flórez M, Palma C, Ebensperger M, Castro A
Mol Hum Reprod 2018 Apr 1;24(4):203-210. doi: 10.1093/molehr/gay006. PMID: 29438521
Combined deletion of DAZ2 and DAZ4 copies of Y chromosome DAZ gene is associated with male infertility in Tunisian men.
Ghorbel M, Baklouti-Gargouri S, Keskes R, Chakroun N, Sellami A, Fakhfakh F, Ammar-Keskes L
Gene 2014 Sep 1;547(2):191-4. Epub 2014 May 28 doi: 10.1016/j.gene.2014.05.061. PMID: 24878370
Analysis of 6 single-nucleotide polymorphisms in the androgen receptor gene in Chilean patients with primary spermatogenic failure.
Parada-Bustamante A, Lardone MC, Valdevenito R, Ebensperger M, López PV, Madariaga M, Piottante A, Castro A
J Androl 2012 Jan-Feb;33(1):88-95. Epub 2011 Mar 10 doi: 10.2164/jandrol.110.012195. PMID: 21393548

Diagnosis

Actionable secondary findings following exome sequencing of 836 non-obstructive azoospermia cases and their value in patient management.
Kasak L, Lillepea K, Nagirnaja L, Aston KI, Schlegel PN, Gonçalves J, Carvalho F, Moreno-Mendoza D, Almstrup K, Eisenberg ML, Jarvi KA, O'Bryan MK, Lopes AM, Conrad DF; GEMINI Consortium, Punab M, Laan M
Hum Reprod 2022 Jun 30;37(7):1652-1663. doi: 10.1093/humrep/deac100. PMID: 35535697Free PMC Article
A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships.
Houston BJ, Riera-Escamilla A, Wyrwoll MJ, Salas-Huetos A, Xavier MJ, Nagirnaja L, Friedrich C, Conrad DF, Aston KI, Krausz C, Tüttelmann F, O'Bryan MK, Veltman JA, Oud MS
Hum Reprod Update 2021 Dec 21;28(1):15-29. doi: 10.1093/humupd/dmab030. PMID: 34498060Free PMC Article
Sequencing of a 'mouse azoospermia' gene panel in azoospermic men: identification of RNF212 and STAG3 mutations as novel genetic causes of meiotic arrest.
Riera-Escamilla A, Enguita-Marruedo A, Moreno-Mendoza D, Chianese C, Sleddens-Linkels E, Contini E, Benelli M, Natali A, Colpi GM, Ruiz-Castañé E, Maggi M, Baarends WM, Krausz C
Hum Reprod 2019 Jun 4;34(6):978-988. doi: 10.1093/humrep/dez042. PMID: 31125047
Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory.
Lo Giacco D, Chianese C, Sánchez-Curbelo J, Bassas L, Ruiz P, Rajmil O, Sarquella J, Vives A, Ruiz-Castañé E, Oliva R, Ars E, Krausz C
Eur J Hum Genet 2014 Jun;22(6):754-61. Epub 2013 Nov 6 doi: 10.1038/ejhg.2013.253. PMID: 24193344Free PMC Article
Chromosomal abnormality and Y chromosome microdeletion in Chinese patients with azoospermia or severe oligozoospermia.
Zhou-Cun A, Yang Y, Zhang SZ, Zhang W, Lin L
Yi Chuan Xue Bao 2006 Feb;33(2):111-6. doi: 10.1016/s0379-4172(06)60029-2. PMID: 16529294

Therapy

Actionable secondary findings following exome sequencing of 836 non-obstructive azoospermia cases and their value in patient management.
Kasak L, Lillepea K, Nagirnaja L, Aston KI, Schlegel PN, Gonçalves J, Carvalho F, Moreno-Mendoza D, Almstrup K, Eisenberg ML, Jarvi KA, O'Bryan MK, Lopes AM, Conrad DF; GEMINI Consortium, Punab M, Laan M
Hum Reprod 2022 Jun 30;37(7):1652-1663. doi: 10.1093/humrep/deac100. PMID: 35535697Free PMC Article
Use of human chorionic gonadotropin in a male Pacific walrus (Odobenus rosmarus divergens) to induce rut and achieve a pregnancy in a nulliparous female.
Muraco HS, Coombs LD, Procter DG, Turek PJ, Muraco MJ
J Androl 2012 Sep-Oct;33(5):789-97. Epub 2011 Dec 29 doi: 10.2164/jandrol.111.015032. PMID: 22207706

Prognosis

Sequencing of a 'mouse azoospermia' gene panel in azoospermic men: identification of RNF212 and STAG3 mutations as novel genetic causes of meiotic arrest.
Riera-Escamilla A, Enguita-Marruedo A, Moreno-Mendoza D, Chianese C, Sleddens-Linkels E, Contini E, Benelli M, Natali A, Colpi GM, Ruiz-Castañé E, Maggi M, Baarends WM, Krausz C
Hum Reprod 2019 Jun 4;34(6):978-988. doi: 10.1093/humrep/dez042. PMID: 31125047
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
Exosomal microRNAs in seminal plasma are markers of the origin of azoospermia and can predict the presence of sperm in testicular tissue.
Barceló M, Mata A, Bassas L, Larriba S
Hum Reprod 2018 Jun 1;33(6):1087-1098. doi: 10.1093/humrep/dey072. PMID: 29635626Free PMC Article
Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory.
Lo Giacco D, Chianese C, Sánchez-Curbelo J, Bassas L, Ruiz P, Rajmil O, Sarquella J, Vives A, Ruiz-Castañé E, Oliva R, Ars E, Krausz C
Eur J Hum Genet 2014 Jun;22(6):754-61. Epub 2013 Nov 6 doi: 10.1038/ejhg.2013.253. PMID: 24193344Free PMC Article
Transcriptional levels of four Y chromosome-linked AZF genes in azoospermic men and their association with successful sperm retrieval.
Kuo PL, Lin YH, Teng YN, Hsu CC, Lin JS, Lin YM
Urology 2004 Jan;63(1):131-6; discussion 136. doi: 10.1016/j.urology.2003.08.048. PMID: 14751364

Clinical prediction guides

Microdeletions and microduplications linked to severe congenital disorders in infertile men.
Kikas T, Punab AM, Kasak L, Poolamets O, Vihljajev V, Pomm K, Reiman M, Tjagur S, Korrovits P, Punab M, Laan M
Sci Rep 2023 Jan 11;13(1):574. doi: 10.1038/s41598-023-27750-w. PMID: 36631630Free PMC Article
A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships.
Houston BJ, Riera-Escamilla A, Wyrwoll MJ, Salas-Huetos A, Xavier MJ, Nagirnaja L, Friedrich C, Conrad DF, Aston KI, Krausz C, Tüttelmann F, O'Bryan MK, Veltman JA, Oud MS
Hum Reprod Update 2021 Dec 21;28(1):15-29. doi: 10.1093/humupd/dmab030. PMID: 34498060Free PMC Article
Leydig cell dysfunction is associated with post-transcriptional deregulation of CYP17A1 in men with Sertoli cell-only syndrome.
Lardone MC, Argandoña F, Lorca M, Piottante A, Flórez M, Palma C, Ebensperger M, Castro A
Mol Hum Reprod 2018 Apr 1;24(4):203-210. doi: 10.1093/molehr/gay006. PMID: 29438521
Analysis of 6 single-nucleotide polymorphisms in the androgen receptor gene in Chilean patients with primary spermatogenic failure.
Parada-Bustamante A, Lardone MC, Valdevenito R, Ebensperger M, López PV, Madariaga M, Piottante A, Castro A
J Androl 2012 Jan-Feb;33(1):88-95. Epub 2011 Mar 10 doi: 10.2164/jandrol.110.012195. PMID: 21393548
P450-aromatase activity and expression in human testicular tissues with severe spermatogenic failure.
Lardone MC, Castillo P, Valdevenito R, Ebensperger M, Ronco AM, Pommer R, Piottante A, Castro A
Int J Androl 2010 Aug 1;33(4):650-60. Epub 2009 Nov 3 doi: 10.1111/j.1365-2605.2009.01002.x. PMID: 19906189

Recent systematic reviews

A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships.
Houston BJ, Riera-Escamilla A, Wyrwoll MJ, Salas-Huetos A, Xavier MJ, Nagirnaja L, Friedrich C, Conrad DF, Aston KI, Krausz C, Tüttelmann F, O'Bryan MK, Veltman JA, Oud MS
Hum Reprod Update 2021 Dec 21;28(1):15-29. doi: 10.1093/humupd/dmab030. PMID: 34498060Free PMC Article
Association of polymorphisms of A260G and A386G in DAZL gene with male infertility: a meta-analysis and systemic review.
Chen P, Wang X, Xu C, Xiao H, Zhang WH, Wang XH, Zhang XH
Asian J Androl 2016 Jan-Feb;18(1):96-101. doi: 10.4103/1008-682X.153542. PMID: 25994644Free PMC Article

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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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