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Spermatogenic failure 27(SPGF27)

MedGen UID:
1634748
Concept ID:
C4693784
Disease or Syndrome
Synonyms: SPERMATOGENIC FAILURE 27; SPGF27
 
Gene (location): AK7 (14q32.2)
 
Monarch Initiative: MONDO:0054731
OMIM®: 617965

Definition

Spermatogenic failure-27 (SPGF27) is characterized by infertility due to multiple morphologic abnormalities of the sperm flagella (MMAF), a phenotype also designated as 'dysplasia of the fibrous sheath,' 'short tails,' or 'stump tails.' Spermatozoa in the ejaculate exhibit short, irregular, coiled, or absent flagella. Ultrastructural analysis shows loss of the central pair of microtubules, loss of the inner dynein arms, and peripheral doublet disorganization (Lores et al., 2018). For a discussion of the 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.
Reduced sperm motility
MedGen UID:
907698
Concept ID:
C4082176
Finding
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).
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.

Professional guidelines

PubMed

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
Hull MG, Glazener CM, Kelly NJ, Conway DI, Foster PA, Hinton RA, Coulson C, Lambert PA, Watt EM, Desai KM
Br Med J (Clin Res Ed) 1985 Dec 14;291(6510):1693-7. doi: 10.1136/bmj.291.6510.1693. PMID: 3935248Free PMC Article

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
Andreassi MG, Borghini A, Vecoli C, Piccaluga E, Guagliumi G, Del Greco M, Gaita F, Picano E
Environ Mol Mutagen 2020 Mar;61(3):361-368. Epub 2019 Oct 25 doi: 10.1002/em.22341. PMID: 31605552
Seabra CM, Quental S, Lima AC, Carvalho F, Gonçalves J, Fernandes S, Pereira I, Silva J, Marques PI, Sousa M, Barros A, Seixas S, Amorim A, Lopes AM
J Urol 2015 May;193(5):1709-15. Epub 2014 Nov 11 doi: 10.1016/j.juro.2014.11.004. PMID: 25451826
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
Lend AK, Belousova A, Haller-Kikkatalo K, Punab M, Poolamets O, Peters M, Salumets A
Syst Biol Reprod Med 2010 Feb;56(1):84-90. doi: 10.3109/19396360903456676. PMID: 20170288

Diagnosis

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
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
Lardone MC, Parodi DA, Ebensperger M, Peñaloza P, Cornejo V, Valdevenito R, Pommer R, Castro A
Fertil Steril 2007 Nov;88(5):1318-26. Epub 2007 Apr 9 doi: 10.1016/j.fertnstert.2007.01.038. PMID: 17416365
Plaseski T, Novevski P, Kocevska B, Dimitrovski C, Efremov GD, Plaseska-Karanfilska D
Prilozi 2006 Jul;27(1):5-16. PMID: 16862061
Kent-First M, Muallem A, Shultz J, Pryor J, Roberts K, Nolten W, Meisner L, Chandley A, Gouchy G, Jorgensen L, Havighurst T, Grosch J
Mol Reprod Dev 1999 May;53(1):27-41. doi: 10.1002/(SICI)1098-2795(199905)53:1<27::AID-MRD4>3.0.CO;2-W. PMID: 10230814

Therapy

Andreassi MG, Borghini A, Vecoli C, Piccaluga E, Guagliumi G, Del Greco M, Gaita F, Picano E
Environ Mol Mutagen 2020 Mar;61(3):361-368. Epub 2019 Oct 25 doi: 10.1002/em.22341. PMID: 31605552
Yanus GA, Akhapkina TA, Whitehead AJ, Bizin IV, Iyevleva AG, Kuligina ES, Aleksakhina SN, Anisimova MO, Holmatov MM, Romanko AA, Zaitseva OA, Yatsuk OS, Zagorodnev KA, Matsneva MA, Koloskov AV, Togo AV, Suspitsin EN, Imyanitov EN
Eur J Med Genet 2019 Jul;62(7):103656. Epub 2019 Apr 24 doi: 10.1016/j.ejmg.2019.04.013. PMID: 31028847

Prognosis

Shiraishi K, Matsuyama H
Int J Urol 2020 Dec;27(12):1124-1129. Epub 2020 Sep 11 doi: 10.1111/iju.14368. PMID: 32914440
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
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
Plaseski T, Novevski P, Kocevska B, Dimitrovski C, Efremov GD, Plaseska-Karanfilska D
Prilozi 2006 Jul;27(1):5-16. PMID: 16862061
Hull MG, Glazener CM, Kelly NJ, Conway DI, Foster PA, Hinton RA, Coulson C, Lambert PA, Watt EM, Desai KM
Br Med J (Clin Res Ed) 1985 Dec 14;291(6510):1693-7. doi: 10.1136/bmj.291.6510.1693. PMID: 3935248Free PMC Article

Clinical prediction guides

Shiraishi K, Matsuyama H
Int J Urol 2020 Dec;27(12):1124-1129. Epub 2020 Sep 11 doi: 10.1111/iju.14368. PMID: 32914440
Enguita-Marruedo A, Sleddens-Linkels E, Ooms M, de Geus V, Wilke M, Blom E, Dohle GR, Looijenga LHJ, van Cappellen W, Baart EB, Baarends WM
Fertil Steril 2019 Dec;112(6):1059-1070.e3. Epub 2019 Nov 22 doi: 10.1016/j.fertnstert.2019.08.004. PMID: 31767154
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
Castro-Nallar E, Bacallao K, Parada-Bustamante A, Lardone MC, López PV, Madariaga M, Valdevenito R, Piottante A, Ebensperger M, Castro A
J Androl 2010 Nov-Dec;31(6):552-9. Epub 2010 Apr 8 doi: 10.2164/jandrol.109.008821. PMID: 20378930
Lardone MC, Parodi DA, Ebensperger M, Peñaloza P, Cornejo V, Valdevenito R, Pommer R, Castro A
Fertil Steril 2007 Nov;88(5):1318-26. Epub 2007 Apr 9 doi: 10.1016/j.fertnstert.2007.01.038. PMID: 17416365

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