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Spermatogenic failure 34(SPGF34)

MedGen UID:
1648297
Concept ID:
C4748403
Disease or Syndrome
Synonyms: SPERMATOGENIC FAILURE 34; SPGF34
 
Gene (location): 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.
Reduced sperm motility
MedGen UID:
98339
Concept ID:
C0403823
Disease or Syndrome
An abnormal reduction in the mobility of ejaculated sperm.
Absent sperm flagella
MedGen UID:
1623855
Concept ID:
C4539786
Finding
Sperm cells lacking flagella.
Short sperm flagella
MedGen UID:
1623693
Concept ID:
C4539787
Finding
Sperm cells with abnormally short flagella.
Coiled sperm flagella
MedGen UID:
1611216
Concept ID:
C4539789
Finding
Sperm cells whose flagella are twisted (coiled).
Irregularly shaped sperm tail
MedGen UID:
1687959
Concept ID:
C5233737
Finding
Irregular or changing caliber (diameter) along the tail of the sperm.
Absent sperm axoneme central pair complex
MedGen UID:
1785608
Concept ID:
C5539658
Finding
Absense of the central pair of microtubules in the sperm axoneme, thereby forming a 9+0 pattern instead of the normal 9+2 pattern.

Professional guidelines

PubMed

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

Recent clinical studies

Etiology

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
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: 30865283Free PMC Article
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
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
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

Diagnosis

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: 35809576Free PMC Article
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: 34276570Free PMC Article
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
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: 30865283Free PMC Article
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

Therapy

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: 32554749Free PMC Article

Prognosis

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: 32554749Free PMC Article
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
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
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

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: 37505079Free PMC Article
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: 32554749Free PMC Article
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
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
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

Recent systematic reviews

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: 30865283Free PMC Article
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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