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Spermatogenic failure 88(SPGF88)

MedGen UID:
1845113
•Concept ID:
C5882706
•
Disease or Syndrome
Synonym: SPGF88
 
Gene (location): KASH5 (19q13.33)
 
Monarch Initiative: MONDO:0957821
OMIM®: 620547

Definition

Spermatogenic failure-88 (SPGF88) is characterized by male infertility due to prepachytene meiotic arrest (Wu et al., 2022; Yang et al., 2022). 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

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
Experimental validation of seminal miR-31-5p as biomarker for azoospermia and evaluation of the effect of preanalytical variables.
Plata-Peña L, López-Rodrigo O, Bassas L, Larriba S
Andrology 2023 May;11(4):668-676. Epub 2022 Sep 17 doi: 10.1111/andr.13286. PMID: 36057114
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
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
Evaluation of DAZ microdeletions in 34 infertile men.
Abdelmoula NB, Sallemi A, Chakroun N, Keskes L, Amouri A, Rebai T
Arch Androl 2006 May-Jun;52(3):175-8. doi: 10.1080/01485010500316261. PMID: 16574598

Diagnosis

Experimental validation of seminal miR-31-5p as biomarker for azoospermia and evaluation of the effect of preanalytical variables.
Plata-Peña L, López-Rodrigo O, Bassas L, Larriba S
Andrology 2023 May;11(4):668-676. Epub 2022 Sep 17 doi: 10.1111/andr.13286. PMID: 36057114
Y chromosome structural variation in infertile men detected by targeted next-generation sequencing.
Liu X, Zhang H, Zhang X, Zhang H, Jiang Y, Liu R, Fei J, Wang Y, Yu Y
J Assist Reprod Genet 2021 Apr;38(4):941-948. Epub 2021 Jan 16 doi: 10.1007/s10815-020-02031-x. PMID: 33454900Free PMC Article
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
Evaluation of DAZ microdeletions in 34 infertile men.
Abdelmoula NB, Sallemi A, Chakroun N, Keskes L, Amouri A, Rebai T
Arch Androl 2006 May-Jun;52(3):175-8. doi: 10.1080/01485010500316261. PMID: 16574598

Therapy

Contraceptive efficacy of a depot progestin and androgen combination in men.
Turner L, Conway AJ, Jimenez M, Liu PY, Forbes E, McLachlan RI, Handelsman DJ
J Clin Endocrinol Metab 2003 Oct;88(10):4659-67. doi: 10.1210/jc.2003-030107. PMID: 14557437
The INSL3-LGR8/GREAT ligand-receptor pair in human cryptorchidism.
Ferlin A, Simonato M, Bartoloni L, Rizzo G, Bettella A, Dottorini T, Dallapiccola B, Foresta C
J Clin Endocrinol Metab 2003 Sep;88(9):4273-9. doi: 10.1210/jc.2003-030359. PMID: 12970298

Prognosis

Experimental validation of seminal miR-31-5p as biomarker for azoospermia and evaluation of the effect of preanalytical variables.
Plata-Peña L, López-Rodrigo O, Bassas L, Larriba S
Andrology 2023 May;11(4):668-676. Epub 2022 Sep 17 doi: 10.1111/andr.13286. PMID: 36057114

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
Experimental validation of seminal miR-31-5p as biomarker for azoospermia and evaluation of the effect of preanalytical variables.
Plata-Peña L, López-Rodrigo O, Bassas L, Larriba S
Andrology 2023 May;11(4):668-676. Epub 2022 Sep 17 doi: 10.1111/andr.13286. PMID: 36057114
Analysis of 6 single-nucleotide polymorphisms in the androgen receptor gene in Chilean patients with primary spermatogenic failure.
Parada-Bustamante A, Lardone MC, Valdevenito R, Ebensperger M, López PV, Madariaga M, Piottante A, Castro A
J Androl 2012 Jan-Feb;33(1):88-95. Epub 2011 Mar 10 doi: 10.2164/jandrol.110.012195. PMID: 21393548
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

Supplemental Content

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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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