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Spermatogenic failure 62(SPGF62)

MedGen UID:
1794259
•Concept ID:
C5562049
•
Disease or Syndrome
Synonym: SPGF62
 
Gene (location): RNF212 (4p16.3)
 
Monarch Initiative: MONDO:0030508
OMIM®: 619673

Definition

Spermatogenic failure-62 (SPGF62) is characterized by male infertility due to nonobstructive azoospermia, resulting from complete metaphase arrest at the spermatocyte stage (Riera-Escamilla et al., 2019). For a general phenotypic description and 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
Non-obstructive azoospermia
MedGen UID:
866757
•Concept ID:
C4021107
•
Disease or Syndrome
Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.
See: Feature record | Search on this feature
Spermatocyte maturation arrest
MedGen UID:
1372736
•Concept ID:
C4476925
•
Finding
A type of spermatogenesis maturation arrest in which the block of developmental occurs in the spermatocyte stage. Testicular histology shows seminiferous tubules with Sertoli cells, spermatogonial cells and spermatocytes but no further differentiated cells like round spermatids.
See: Feature record | Search on this feature

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

Microdeletions and microduplications linked to severe congenital disorders in infertile men.
Kikas T, Punab AM, Kasak L, Poolamets O, Vihljajev V, Pomm K, Reiman M, Tjagur S, Korrovits P, Punab M, Laan M
Sci Rep 2023 Jan 11;13(1):574. doi: 10.1038/s41598-023-27750-w. PMID: 36631630Free PMC Article
Pseudoautosomal abnormalities in terminal AZFb+c deletions are associated with isochromosomes Yp and may lead to abnormal growth and neuropsychiatric function.
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
Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1.
Lopes AM, Aston KI, Thompson E, Carvalho F, Gonçalves J, Huang N, Matthiesen R, Noordam MJ, Quintela I, Ramu A, Seabra C, Wilfert AB, Dai J, Downie JM, Fernandes S, Guo X, Sha J, Amorim A, Barros A, Carracedo A, Hu Z, Hurles ME, Moskovtsev S, Ober C, Paduch DA, Schiffman JD, Schlegel PN, Sousa M, Carrell DT, Conrad DF
PLoS Genet 2013 Mar;9(3):e1003349. Epub 2013 Mar 21 doi: 10.1371/journal.pgen.1003349. PMID: 23555275Free PMC Article
A to G transitions at 260, 386 and 437 in DAZL gene are not associated with spermatogenic failure in Indian population.
Thangaraj K, Deepa SR, Pavani K, Gupta NJ, Reddy P, Reddy AG, Chakravarty BN, Singh L
Int J Androl 2006 Oct;29(5):510-14. doi: 10.1111/j.1365-2605.2006.00685.x. PMID: 16573709
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

Diagnosis

AZF deletions in Indian populations: original study and meta-analyses.
Waseem AS, Singh V, Makker GC, Trivedi S, Mishra G, Singh K, Rajender S
J Assist Reprod Genet 2020 Feb;37(2):459-469. Epub 2020 Jan 9 doi: 10.1007/s10815-019-01661-0. PMID: 31919744Free 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
A homozygous FANCM frameshift pathogenic variant causes male infertility.
Yin H, Ma H, Hussain S, Zhang H, Xie X, Jiang L, Jiang X, Iqbal F, Bukhari I, Jiang H, Ali A, Zhong L, Li T, Fan S, Zhang B, Gao J, Li Y, Nazish J, Khan T, Khan M, Zubair M, Hao Q, Fang H, Huang J, Huleihel M, Sha J, Pandita TK, Zhang Y, Shi Q
Genet Med 2019 Jan;21(1):62-70. Epub 2018 Jun 12 doi: 10.1038/s41436-018-0015-7. PMID: 29895858Free PMC Article
Pseudoautosomal abnormalities in terminal AZFb+c deletions are associated with isochromosomes Yp and may lead to abnormal growth and neuropsychiatric function.
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
Levels of hepatocyte growth factor/scatter factor (HGF/SF) in seminal plasma of patients with andrological diseases.
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

Zhibai Dihuang Pill Alleviates Ureaplasma urealyticum-Induced Spermatogenic Failure and Testicular Dysfunction via MAPK Signaling Pathway.
Zhang K, Guo J, Zhu Y, Zhang R
Comput Math Methods Med 2022;2022:7174399. Epub 2022 Feb 22 doi: 10.1155/2022/7174399. PMID: 35242210Free PMC Article
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
Efficacy and acceptability of testosterone implants, alone or in combination with a 5alpha-reductase inhibitor, for male hormonal contraception.
McLachlan RI, McDonald J, Rushford D, Robertson DM, Garrett C, Baker HW
Contraception 2000 Aug;62(2):73-8. doi: 10.1016/s0010-7824(00)00139-6. PMID: 11102590

Clinical prediction guides

Microdeletions and microduplications linked to severe congenital disorders in infertile men.
Kikas T, Punab AM, Kasak L, Poolamets O, Vihljajev V, Pomm K, Reiman M, Tjagur S, Korrovits P, Punab M, Laan M
Sci Rep 2023 Jan 11;13(1):574. doi: 10.1038/s41598-023-27750-w. PMID: 36631630Free PMC Article
AZF deletions in Indian populations: original study and meta-analyses.
Waseem AS, Singh V, Makker GC, Trivedi S, Mishra G, Singh K, Rajender S
J Assist Reprod Genet 2020 Feb;37(2):459-469. Epub 2020 Jan 9 doi: 10.1007/s10815-019-01661-0. PMID: 31919744Free PMC Article
Pseudoautosomal abnormalities in terminal AZFb+c deletions are associated with isochromosomes Yp and may lead to abnormal growth and neuropsychiatric function.
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
A to G transitions at 260, 386 and 437 in DAZL gene are not associated with spermatogenic failure in Indian population.
Thangaraj K, Deepa SR, Pavani K, Gupta NJ, Reddy P, Reddy AG, Chakravarty BN, Singh L
Int J Androl 2006 Oct;29(5):510-14. doi: 10.1111/j.1365-2605.2006.00685.x. PMID: 16573709

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen

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