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Spermatogenic failure 10(SPGF10)

MedGen UID:
766707
Concept ID:
C3553793
Disease or Syndrome
Synonyms: SPERMATOGENIC FAILURE 10, SUSCEPTIBILITY TO; SPERMATOGENIC FAILURE WITH DEFECTIVE SPERM ANNULUS; SPGF10
 
Gene (location): SEPTIN12 (16p13.3)
 
Monarch Initiative: MONDO:0013901
OMIM®: 614822

Definition

Spermatogenic failure-10 (SPGF10) is associated with a defective annulus, a ring structure that demarcates the midpiece and the principal piece of the sperm tail. The firm attachment of the annulus to the flagellar membrane suggests that it may supply mechanical support and prevent displacement of the caudal mitochondrial helix (summary by Kuo et al., 2012). For a discussion of phenotypic and 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.
Oligospermia
MedGen UID:
18162
Concept ID:
C0028960
Disease or Syndrome
Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen.
Reduced sperm motility
MedGen UID:
98339
Concept ID:
C0403823
Disease or Syndrome
An abnormal reduction in the mobility of ejaculated sperm.
Abnormal sperm morphology
MedGen UID:
588677
Concept ID:
C0403824
Finding
A structural anomaly of sperm.

Professional guidelines

PubMed

Lillepea K, Juchnewitsch AG, Kasak L, Valkna A, Dutta A, Pomm K, Poolamets O, Nagirnaja L, Tamp E, Mahyari E, Vihljajev V, Tjagur S, Papadimitriou S, Riera-Escamilla A, Versbraegen N, Farnetani G, Castillo-Madeen H, Sütt M, Kübarsepp V, Tennisberg S, Korrovits P, Krausz C, Aston KI, Lenaerts T, Conrad DF, Punab M, Laan M
Am J Hum Genet 2024 May 2;111(5):877-895. Epub 2024 Apr 12 doi: 10.1016/j.ajhg.2024.03.013. PMID: 38614076Free PMC Article
Kumar R
Clinics (Sao Paulo) 2013;68 Suppl 1(Suppl 1):75-9. doi: 10.6061/clinics/2013(sup01)08. PMID: 23503956Free PMC Article
McLachlan RI, O'Bryan MK
J Clin Endocrinol Metab 2010 Mar;95(3):1013-24. Epub 2010 Jan 20 doi: 10.1210/jc.2009-1925. PMID: 20089613

Recent clinical studies

Etiology

Lillepea K, Juchnewitsch AG, Kasak L, Valkna A, Dutta A, Pomm K, Poolamets O, Nagirnaja L, Tamp E, Mahyari E, Vihljajev V, Tjagur S, Papadimitriou S, Riera-Escamilla A, Versbraegen N, Farnetani G, Castillo-Madeen H, Sütt M, Kübarsepp V, Tennisberg S, Korrovits P, Krausz C, Aston KI, Lenaerts T, Conrad DF, Punab M, Laan M
Am J Hum Genet 2024 May 2;111(5):877-895. Epub 2024 Apr 12 doi: 10.1016/j.ajhg.2024.03.013. PMID: 38614076Free PMC Article
Hallast P, Kibena L, Punab M, Arciero E, Rootsi S, Grigorova M, Flores R, Jobling MA, Poolamets O, Pomm K, Korrovits P, Rull K, Xue Y, Tyler-Smith C, Laan M
Elife 2021 Mar 30;10 doi: 10.7554/eLife.65420. PMID: 33781384Free PMC Article
Kasak L, Laan M
Hum Genet 2021 Jan;140(1):135-154. Epub 2020 Jan 18 doi: 10.1007/s00439-020-02112-y. PMID: 31955275
Krausz C, Casamonti E
Hum Genet 2017 May;136(5):637-655. Epub 2017 Apr 29 doi: 10.1007/s00439-017-1793-8. PMID: 28456834
Visser L, Repping S
Reproduction 2010 Feb;139(2):303-7. Epub 2009 Sep 23 doi: 10.1530/REP-09-0229. PMID: 19776097

Diagnosis

Juchnewitsch AG, Pomm K, Dutta A, Tamp E, Valkna A, Lillepea K, Mahyari E, Tjagur S, Belova G, Kübarsepp V, Castillo-Madeen H, Riera-Escamilla A, Põlluaas L, Nagirnaja L, Poolamets O, Vihljajev V, Sütt M, Versbraegen N, Papadimitriou S, McLachlan RI, Jarvi KA, Schlegel PN, Tennisberg S, Korrovits P, Vigh-Conrad K, O'Bryan MK, Aston KI, Lenaerts T, Conrad DF, Kasak L, Punab M, Laan M
Front Endocrinol (Lausanne) 2024;15:1312357. Epub 2024 Apr 9 doi: 10.3389/fendo.2024.1312357. PMID: 38654924Free PMC Article
Hardy J, Pollock N, Gingrich T, Sweet P, Ramesh A, Kuong J, Basar A, Jiang H, Hwang K, Vukina J, Jaffe T, Olszewska M, Kurpisz M, Yatsenko AN
J Assist Reprod Genet 2022 Sep;39(9):2103-2114. Epub 2022 Jul 18 doi: 10.1007/s10815-022-02538-5. PMID: 35849255Free PMC Article
Laan M, Kasak L, Punab M
Br Med Bull 2021 Dec 16;140(1):5-22. doi: 10.1093/bmb/ldab025. PMID: 34755838Free PMC Article
Krausz C, Casamonti E
Hum Genet 2017 May;136(5):637-655. Epub 2017 Apr 29 doi: 10.1007/s00439-017-1793-8. PMID: 28456834
Massart A, Lissens W, Tournaye H, Stouffs K
Asian J Androl 2012 Jan;14(1):40-8. Epub 2011 Dec 5 doi: 10.1038/aja.2011.67. PMID: 22138898Free PMC Article

Therapy

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
Alsubaie LM, Alsuwat HS, Almandil NB, AlSulaiman A, AbdulAzeez S, Borgio JF
Mol Biol Rep 2020 Oct;47(10):7623-7632. Epub 2020 Sep 29 doi: 10.1007/s11033-020-05832-6. PMID: 32996047
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
Kumar R
Clinics (Sao Paulo) 2013;68 Suppl 1(Suppl 1):75-9. doi: 10.6061/clinics/2013(sup01)08. PMID: 23503956Free PMC Article
Poongothai J, Gopenath TS, Manonayaki S
Singapore Med J 2009 Apr;50(4):336-47. PMID: 19421675

Prognosis

Wyrwoll MJ, Gaasbeek CM, Golubickaite I, Stakaitis R, Oud MS, Nagirnaja L, Dion C, Sindi EB, Leitch HG, Jayasena CN, Sironen A, Dicke AK, Rotte N, Stallmeyer B, Kliesch S, Grangeiro CHP, Araujo TF, Lasko P; Genetics of Male Infertility Initiative (GEMINI) consortium, D'Hauwers K, Smits RM, Ramos L, Xavier MJ, Conrad DF, Almstrup K, Veltman JA, Tüttelmann F, van der Heijden GW
Am J Hum Genet 2022 Oct 6;109(10):1850-1866. Epub 2022 Sep 22 doi: 10.1016/j.ajhg.2022.09.002. PMID: 36150389Free PMC Article
Kasak L, Laan M
Hum Genet 2021 Jan;140(1):135-154. Epub 2020 Jan 18 doi: 10.1007/s00439-020-02112-y. PMID: 31955275
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
Krausz C, Casamonti E
Hum Genet 2017 May;136(5):637-655. Epub 2017 Apr 29 doi: 10.1007/s00439-017-1793-8. PMID: 28456834

Clinical prediction guides

Lillepea K, Juchnewitsch AG, Kasak L, Valkna A, Dutta A, Pomm K, Poolamets O, Nagirnaja L, Tamp E, Mahyari E, Vihljajev V, Tjagur S, Papadimitriou S, Riera-Escamilla A, Versbraegen N, Farnetani G, Castillo-Madeen H, Sütt M, Kübarsepp V, Tennisberg S, Korrovits P, Krausz C, Aston KI, Lenaerts T, Conrad DF, Punab M, Laan M
Am J Hum Genet 2024 May 2;111(5):877-895. Epub 2024 Apr 12 doi: 10.1016/j.ajhg.2024.03.013. PMID: 38614076Free PMC Article
Li R
Medicine (Baltimore) 2022 Dec 9;101(49):e32216. doi: 10.1097/MD.0000000000032216. PMID: 36626513Free PMC Article
Kasak L, Laan M
Hum Genet 2021 Jan;140(1):135-154. Epub 2020 Jan 18 doi: 10.1007/s00439-020-02112-y. PMID: 31955275
Krausz C, Casamonti E
Hum Genet 2017 May;136(5):637-655. Epub 2017 Apr 29 doi: 10.1007/s00439-017-1793-8. PMID: 28456834
Massart A, Lissens W, Tournaye H, Stouffs K
Asian J Androl 2012 Jan;14(1):40-8. Epub 2011 Dec 5 doi: 10.1038/aja.2011.67. PMID: 22138898Free PMC Article

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