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Spermatogenic failure 90(SPGF90)

MedGen UID:
1853928
•Concept ID:
C5935587
•
Disease or Syndrome
Synonym: SPGF90
 
Gene (location): ARMC12 (6p21.31)
 
Monarch Initiative: MONDO:0958242
OMIM®: 620744

Definition

Spermatogenic failure-90 (SPGF90) is characterized by male infertility due to asthenozoospermia, in which progressive motility of sperm is markedly reduced. This form of infertility can be rescued by intracytoplasmic sperm injection (ICSI) (Liu et al., 2023). For 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.
See: Feature record | Search on this feature
Oligozoospermia
MedGen UID:
678638
•Concept ID:
C0868910
•
Finding
Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen.
See: Feature record | Search on this feature
Reduced progressive sperm motility
MedGen UID:
1730031
•Concept ID:
C5436680
•
Finding
A reduced proportion of sperm that move in a straight line or large circles; alternatively, an increased proportion of sperm that move in tight circles or in some other non-linear fashion.
See: Feature record | Search on this feature
Abnormal circulating luteinizing hormone concentration
MedGen UID:
663319
•Concept ID:
C0580438
•
Finding
An anomaly of the circulating level of luteinizing hormone (LH).
See: Feature record | Search on this feature
Abnormal circulating follicle-stimulating hormone concentration
MedGen UID:
892827
•Concept ID:
C4072891
•
Finding
An anomaly of the circulating level of follicle-stimulating hormone (FSH).
See: Feature record | Search on this feature
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Professional guidelines

PubMed

In-vitro fertilization treatment for severe male factor: the fertilization potential of immotile spermatozoa obtained by testicular extraction.
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

Exosomal microRNAs in seminal plasma are markers of the origin of azoospermia and can predict the presence of sperm in testicular tissue.
Barceló M, Mata A, Bassas L, Larriba S
Hum Reprod 2018 Jun 1;33(6):1087-1098. doi: 10.1093/humrep/dey072. PMID: 29635626Free PMC Article
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: 23103232Free PMC Article
Copy number of DAZ genes in infertile men.
Writzl K, Zorn B, Peterlin B
Fertil Steril 2005 Nov;84(5):1522-5. doi: 10.1016/j.fertnstert.2005.06.021. PMID: 16275261
In-vitro fertilization treatment for severe male factor: the fertilization potential of immotile spermatozoa obtained by testicular extraction.
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
Efficacy of intracytoplasmic sperm injection using testicular spermatozoa.
Gil-Salom M, Mínguez Y, Rubio C, De los Santos MJ, Remohí J, Pellicer A
Hum Reprod 1995 Dec;10(12):3166-70. doi: 10.1093/oxfordjournals.humrep.a135880. PMID: 8822436

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: 35849255Free PMC Article
Genetics of Azoospermia.
Cioppi F, Rosta V, Krausz C
Int J Mol Sci 2021 Mar 23;22(6) doi: 10.3390/ijms22063264. PMID: 33806855Free PMC Article
Non-syndromic monogenic male infertility.
Guerri G, Maniscalchi T, Barati S, Busetto GM, Del Giudice F, De Berardinis E, Cannarella R, Calogero AE, Bertelli M
Acta Biomed 2019 Sep 30;90(10-S):62-67. doi: 10.23750/abm.v90i10-S.8762. PMID: 31577257Free PMC Article
Exosomal microRNAs in seminal plasma are markers of the origin of azoospermia and can predict the presence of sperm in testicular tissue.
Barceló M, Mata A, Bassas L, Larriba S
Hum Reprod 2018 Jun 1;33(6):1087-1098. doi: 10.1093/humrep/dey072. PMID: 29635626Free PMC Article
The presence of germ cells in the semen of azoospermic, cryptozoospermic and severe oligozoospermic patients: stringent flow cytometric analysis and correlations with hormonal status.
Yeung CH, Beiglböck-Karau L, Tüttelmann F, Nieschlag E
Clin Endocrinol (Oxf) 2007 Nov;67(5):767-75. Epub 2007 Jul 4 doi: 10.1111/j.1365-2265.2007.02961.x. PMID: 17610519

Therapy

Propecia-induced spermatogenic failure: a report of two cases.
Liu KE, Binsaleh S, Lo KC, Jarvi K
Fertil Steril 2008 Sep;90(3):849.e17-9. Epub 2007 Dec 11 doi: 10.1016/j.fertnstert.2007.08.026. PMID: 18054928

Prognosis

Exosomal microRNAs in seminal plasma are markers of the origin of azoospermia and can predict the presence of sperm in testicular tissue.
Barceló M, Mata A, Bassas L, Larriba S
Hum Reprod 2018 Jun 1;33(6):1087-1098. doi: 10.1093/humrep/dey072. PMID: 29635626Free PMC Article

Clinical prediction guides

Exosomal microRNAs in seminal plasma are markers of the origin of azoospermia and can predict the presence of sperm in testicular tissue.
Barceló M, Mata A, Bassas L, Larriba S
Hum Reprod 2018 Jun 1;33(6):1087-1098. doi: 10.1093/humrep/dey072. PMID: 29635626Free PMC Article
Y chromosome gr/gr subdeletion is associated with lower semen quality in young men from the general Japanese population but not in fertile Japanese Men.
Sato Y, Iwamoto T, Shinka T, Nozawa S, Yoshiike M, Koh E, Kanaya J, Namiki M, Matsumiya K, Tsujimura A, Komatsu K, Itoh N, Eguchi J, Yamauchi A, Nakahori Y
Biol Reprod 2014 Jun;90(6):116. Epub 2014 Apr 23 doi: 10.1095/biolreprod.114.118810. PMID: 24759788
First study of microdeletions in the Y chromosome of Algerian infertile men with idiopathic oligo- or azoospermia.
Chellat D, Rezgoune ML, McElreavey K, Kherouatou N, Benbouhadja S, Douadi H, Cherifa B, Abadi N, Satta D
Urol Int 2013;90(4):455-9. Epub 2013 Mar 16 doi: 10.1159/000347046. PMID: 23548818
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: 23103232Free PMC Article
Partial microdeletions in the Y-chromosome AZFc region are not a significant risk factor for spermatogenic impairment in Tunisian infertile men.
Ghorbel M, Gargouri SB, Zribi N, Abdallah FB, Cherif M, Keskes R, Chakroun N, Sellami A, McElreavey K, Fakhfakh F, Ammar-Keskes L
Genet Test Mol Biomarkers 2012 Jul;16(7):775-9. Epub 2012 Jun 25 doi: 10.1089/gtmb.2012.0024. PMID: 22731643

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