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Spermatogenic failure 34(SPGF34)

MedGen UID:: 1648297
•Concept ID:: C4748403
•: Disease or Syndrome

Synonyms:	SPERMATOGENIC FAILURE 34; SPGF34

Gene (location): Gene(s) directly associated with this condition or phenotype.	FSIP2 (2q32.1)

Monarch Initiative:	MONDO:0029148
OMIM®:	618153

Definition

Spermatogenic failure-34 (SPGF34) is characterized by multiple morphologic abnormalities of the flagella (MMAF), resulting in immotile spermatozoa and infertility. Irregular-caliber, short, and coiled flagella are primarily observed, as well as absent flagella, and abnormalities of the axoneme are also present (Martinez 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.

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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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Absent sperm axoneme central pair complex

MedGen UID:: 1785608
•Concept ID:: C5539658
•: Finding

Absence of the central pair of microtubules in the sperm axoneme, thereby forming a 9+0 pattern instead of the normal 9+2 pattern.

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Abnormality of the genitourinary system

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

See all (1)

Recent clinical studies

Etiology

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: 31586185 Free 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: 25994644 Free 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

The Y chromosome-linked copy number variations and male fertility.

Krausz C, Chianese C, Giachini C, Guarducci E, Laface I, Forti G
J Endocrinol Invest 2011 May;34(5):376-82. Epub 2011 Mar 21 doi: 10.1007/BF03347463. PMID: 21422806

Y chromosome TSPY copy numbers and semen quality.

Nickkholgh B, Noordam MJ, Hovingh SE, van Pelt AM, van der Veen F, Repping S
Fertil Steril 2010 Oct;94(5):1744-7. Epub 2009 Nov 14 doi: 10.1016/j.fertnstert.2009.09.051. PMID: 19917507

See all (18)

Diagnosis

Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failure.

Riera-Escamilla A, Vockel M, Nagirnaja L, Xavier MJ, Carbonell A, Moreno-Mendoza D, Pybus M, Farnetani G, Rosta V, Cioppi F, Friedrich C, Oud MS, van der Heijden GW, Soave A, Diemer T, Ars E, Sánchez-Curbelo J, Kliesch S, O'Bryan MK, Ruiz-Castañe E; GEMINI Consortium, Azorín F, Veltman JA, Aston KI, Conrad DF, Tüttelmann F, Krausz C
Am J Hum Genet 2022 Aug 4;109(8):1458-1471. Epub 2022 Jul 8 doi: 10.1016/j.ajhg.2022.06.007. PMID: 35809576 Free PMC Article

Investigating the Role of the microRNA-34/449 Family in Male Infertility: A Critical Analysis and Review of the Literature.

Pantos K, Grigoriadis S, Tomara P, Louka I, Maziotis E, Pantou A, Nitsos N, Vaxevanoglou T, Kokkali G, Agarwal A, Sfakianoudis K, Simopoulou M
Front Endocrinol (Lausanne) 2021;12:709943. Epub 2021 Jul 1 doi: 10.3389/fendo.2021.709943. PMID: 34276570 Free PMC Article

Detection of chlamydia infection within human testicular biopsies.

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

The Y chromosome-linked copy number variations and male fertility.

Krausz C, Chianese C, Giachini C, Guarducci E, Laface I, Forti G
J Endocrinol Invest 2011 May;34(5):376-82. Epub 2011 Mar 21 doi: 10.1007/BF03347463. PMID: 21422806

See all (10)

Therapy

A Novel Locus Predicts Spermatogenic Recovery among Childhood Cancer Survivors Exposed to Alkylating Agents.

Sapkota Y, Wilson CL, Zaidi AK, Moon W, Fon Tacer K, Lu L, Liu Q, Baedke J, Dhaduk R, Wang Z, Chemaitilly W, Krasin MJ, Berry FB, Zhang J, Hudson MM, Robison LL, Green DM, Yasui Y
Cancer Res 2020 Sep 1;80(17):3755-3764. Epub 2020 Jun 17 doi: 10.1158/0008-5472.CAN-20-0093. PMID: 32554749 Free PMC Article

See all (1)

Prognosis

A Novel Locus Predicts Spermatogenic Recovery among Childhood Cancer Survivors Exposed to Alkylating Agents.

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

The Y chromosome-linked copy number variations and male fertility.

Krausz C, Chianese C, Giachini C, Guarducci E, Laface I, Forti G
J Endocrinol Invest 2011 May;34(5):376-82. Epub 2011 Mar 21 doi: 10.1007/BF03347463. PMID: 21422806

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

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Clinical prediction guides

Mitochondrial defects caused by PARL deficiency lead to arrested spermatogenesis and ferroptosis.

Radaelli E, Assenmacher CA, Verrelle J, Banerjee E, Manero F, Khiati S, Girona A, Lopez-Lluch G, Navas P, Spinazzi M
Elife 2023 Jul 28;12 doi: 10.7554/eLife.84710. PMID: 37505079 Free PMC Article

A Novel Locus Predicts Spermatogenic Recovery among Childhood Cancer Survivors Exposed to Alkylating Agents.

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

Y chromosome TSPY copy numbers and semen quality.

Nickkholgh B, Noordam MJ, Hovingh SE, van Pelt AM, van der Veen F, Repping S
Fertil Steril 2010 Oct;94(5):1744-7. Epub 2009 Nov 14 doi: 10.1016/j.fertnstert.2009.09.051. PMID: 19917507

AZF microdeletions and partial deletions of AZFc region on the Y chromosome in Moroccan men.

Imken L, El Houate B, Chafik A, Nahili H, Boulouiz R, Abidi O, Chadli E, Louanjli N, Elfath A, Hassar M, McElreavey K, Barakat A, Rouba H
Asian J Androl 2007 Sep;9(5):674-8. doi: 10.1111/j.1745-7262.2007.00290.x. PMID: 17712485

See all (11)

Recent systematic reviews

A systematic review and standardized clinical validity assessment of male infertility genes.

Oud MS, Volozonoka L, Smits RM, Vissers LELM, Ramos L, Veltman JA
Hum Reprod 2019 May 1;34(5):932-941. doi: 10.1093/humrep/dez022. PMID: 30865283 Free 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: 25994644 Free PMC Article

See all (2)

MedGen

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Spermatogenic failure 34(SPGF34)

Definition

Clinical features

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

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