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Spermatogenic failure 35(SPGF35)

MedGen UID:
1679765
Concept ID:
C5193038
Disease or Syndrome
Synonyms: SPERMATOGENIC FAILURE 35; SPGF35
 
Gene (location): QRICH2 (17q25.1)
 
Monarch Initiative: MONDO:0032686
OMIM®: 618341

Definition

Spermatogenic failure-35 (SPGF35) is characterized by multiple morphologic abnormalities of the flagella (MMAF), resulting in spermatozoa with severely impaired motility and infertility. Short, thickened, and coiled flagella are primarily observed, as well as absent flagella, and abnormalities of axonemal composition are also present (Shen et al., 2019). [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.
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).
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.

Recent clinical studies

Etiology

Ghorbel M, Baklouti-Gargouri S, Keskes R, Sellami A, McElreavy K, Ammar-Keskes L
Hum Fertil (Camb) 2023 Dec;26(5):1238-1247. Epub 2023 Jan 2 doi: 10.1080/14647273.2022.2163194. PMID: 36591797
Wyrwoll MJ, Köckerling N, Vockel M, Dicke AK, Rotte N, Pohl E, Emich J, Wöste M, Ruckert C, Wabschke R, Seggewiss J, Ledig S, Tewes AC, Stratis Y, Cremers JF, Wistuba J, Krallmann C, Kliesch S, Röpke A, Stallmeyer B, Friedrich C, Tüttelmann F
Eur Urol 2023 May;83(5):452-462. Epub 2022 Jun 8 doi: 10.1016/j.eururo.2022.05.011. PMID: 35690514
Paladhi P, Dutta S, Pal S, Bose G, Ghosh P, Chattopadhyay R, Chakravarty B, Saha I, Ghosh S
Reprod Sci 2022 Apr;29(4):1241-1261. Epub 2022 Jan 18 doi: 10.1007/s43032-021-00839-1. PMID: 35041134
Arena S, Impellizzeri P, Fazzari C, Peri Flora M, Enrica A, Calabrese U, Centorrino A, Alibrandi A, Romeo C
Urol J 2020 Jun 23;17(4):391-396. doi: 10.22037/uj.v0i0.5351. PMID: 32207142
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

Diagnosis

Wyrwoll MJ, Köckerling N, Vockel M, Dicke AK, Rotte N, Pohl E, Emich J, Wöste M, Ruckert C, Wabschke R, Seggewiss J, Ledig S, Tewes AC, Stratis Y, Cremers JF, Wistuba J, Krallmann C, Kliesch S, Röpke A, Stallmeyer B, Friedrich C, Tüttelmann F
Eur Urol 2023 May;83(5):452-462. Epub 2022 Jun 8 doi: 10.1016/j.eururo.2022.05.011. PMID: 35690514
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
Castro A, Rodríguez F, Flórez M, López P, Curotto B, Martínez D, Maturana A, Lardone MC, Palma C, Mericq V, Ebensperger M, Cassorla F
Hum Reprod 2017 Feb;32(2):465-475. Epub 2017 Jan 5 doi: 10.1093/humrep/dew333. PMID: 28057878
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
Depuydt CE, De Potter CR, Zalata A, Baekelandt E, Bosmans E, Comhaire FH
J Androl 1998 Mar-Apr;19(2):175-82. PMID: 9570740

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
Sciurano RB, Rahn MI, Rey-Valzacchi G, Coco R, Solari AJ
Int J Androl 2012 Aug;35(4):541-9. Epub 2011 Oct 7 doi: 10.1111/j.1365-2605.2011.01221.x. PMID: 21977946
Turner L, Conway AJ, Jimenez M, Liu PY, Forbes E, McLachlan RI, Handelsman DJ
J Clin Endocrinol Metab 2003 Oct;88(10):4659-67. doi: 10.1210/jc.2003-030107. PMID: 14557437

Prognosis

Wyrwoll MJ, Köckerling N, Vockel M, Dicke AK, Rotte N, Pohl E, Emich J, Wöste M, Ruckert C, Wabschke R, Seggewiss J, Ledig S, Tewes AC, Stratis Y, Cremers JF, Wistuba J, Krallmann C, Kliesch S, Röpke A, Stallmeyer B, Friedrich C, Tüttelmann F
Eur Urol 2023 May;83(5):452-462. Epub 2022 Jun 8 doi: 10.1016/j.eururo.2022.05.011. PMID: 35690514
Shiraishi K, Matsuyama H
Int J Urol 2020 Dec;27(12):1124-1129. Epub 2020 Sep 11 doi: 10.1111/iju.14368. PMID: 32914440
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
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
Arena S, Impellizzeri P, Fazzari C, Peri Flora M, Enrica A, Calabrese U, Centorrino A, Alibrandi A, Romeo C
Urol J 2020 Jun 23;17(4):391-396. doi: 10.22037/uj.v0i0.5351. PMID: 32207142

Clinical prediction guides

Wyrwoll MJ, Köckerling N, Vockel M, Dicke AK, Rotte N, Pohl E, Emich J, Wöste M, Ruckert C, Wabschke R, Seggewiss J, Ledig S, Tewes AC, Stratis Y, Cremers JF, Wistuba J, Krallmann C, Kliesch S, Röpke A, Stallmeyer B, Friedrich C, Tüttelmann F
Eur Urol 2023 May;83(5):452-462. Epub 2022 Jun 8 doi: 10.1016/j.eururo.2022.05.011. PMID: 35690514
Shiraishi K, Matsuyama H
Int J Urol 2020 Dec;27(12):1124-1129. Epub 2020 Sep 11 doi: 10.1111/iju.14368. PMID: 32914440
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
Arena S, Impellizzeri P, Fazzari C, Peri Flora M, Enrica A, Calabrese U, Centorrino A, Alibrandi A, Romeo C
Urol J 2020 Jun 23;17(4):391-396. doi: 10.22037/uj.v0i0.5351. PMID: 32207142
Rozen SG, Marszalek JD, Irenze K, Skaletsky H, Brown LG, Oates RD, Silber SJ, Ardlie K, Page DC
Am J Hum Genet 2012 Nov 2;91(5):890-6. Epub 2012 Oct 25 doi: 10.1016/j.ajhg.2012.09.003. PMID: 23103232Free PMC Article

Recent systematic reviews

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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