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Spermatogenic failure 27(SPGF27)

MedGen UID:: 1634748
•Concept ID:: C4693784
•: Disease or Syndrome

Synonyms:	SPERMATOGENIC FAILURE 27; SPGF27

Gene (location): Gene(s) directly associated with this condition or phenotype.	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.

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Reduced sperm motility

MedGen UID:: 98339
•Concept ID:: C0403823
•: Disease or Syndrome

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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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.

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Abnormality of the genitourinary system

Professional guidelines

PubMed

Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory.

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: 24193344 Free PMC Article

Population study of causes, treatment, and outcome of infertility.

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: 3935248 Free PMC Article

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Recent clinical studies

Etiology

Y-chromosome haplogroups and Azoospermia Factor (AZF) analysis in Tunisian infertile male.

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

Meiotic arrest occurs most frequently at metaphase and is often incomplete in azoospermic men.

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

The mutational spectrum of WT1 in male infertility.

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

AZFc deletions and spermatogenic failure: a population-based survey of 20,000 Y chromosomes.

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: 23103232 Free PMC Article

Androgen receptor gene CAG and GGN repeat polymorphisms in Chilean men with primary severe spermatogenic failure.

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

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Diagnosis

Genomic testing for copy number and single nucleotide variants in spermatogenic failure.

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: 35849255 Free PMC Article

Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory.

AZFc partial deletions in Chilean men with severe spermatogenic failure.

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

AZF deletions in infertile men from the Republic of Macedonia.

Plaseski T, Novevski P, Kocevska B, Dimitrovski C, Efremov GD, Plaseska-Karanfilska D
Prilozi 2006 Jul;27(1):5-16. PMID: 16862061

Defining regions of the Y-chromosome responsible for male infertility and identification of a fourth AZF region (AZFd) by Y-chromosome microdeletion detection.

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

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Therapy

Reproductive outcomes and Y chromosome instability in radiation-exposed male workers in cardiac catheterization laboratory.

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

Exome-based search for recurrent disease-causing alleles in Russian population.

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

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Prognosis

Outcomes of partial intussusception and endo-to-side vasoepididymostomy in men with epididymal obstructive azoospermia.

Shiraishi K, Matsuyama H
Int J Urol 2020 Dec;27(12):1124-1129. Epub 2020 Sep 11 doi: 10.1111/iju.14368. PMID: 32914440

Decrease in semen quality and Leydig cell function in infertile men: a longitudinal study.

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

Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory.

AZF deletions in infertile men from the Republic of Macedonia.

Plaseski T, Novevski P, Kocevska B, Dimitrovski C, Efremov GD, Plaseska-Karanfilska D
Prilozi 2006 Jul;27(1):5-16. PMID: 16862061

Population study of causes, treatment, and outcome of infertility.

See all (5)