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Spermatogenic failure 28(SPGF28)

MedGen UID:
1648494
•Concept ID:
C4748117
•
Disease or Syndrome
Synonyms: SPERMATOGENIC FAILURE 28; SPGF28
 
Gene (location): FANCM (14q21.2)
 
Monarch Initiative: MONDO:0054732
OMIM®: 618086

Definition

Spermatogenic failure-28 (SPGF28) is characterized by nonobstructive azoospermia, with a Sertoli cell-only phenotype observed in testicular tissue (Kasak et al., 2018). 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
Decreased testicular size
MedGen UID:
66027
•Concept ID:
C0241355
•
Finding
Reduced volume of the testicle (the male gonad).
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
Elevated circulating follicle stimulating hormone level
MedGen UID:
867192
•Concept ID:
C4021550
•
Finding
An elevated concentration of follicle-stimulating hormone in the blood.
See: Feature record | Search on this feature
Elevated circulating luteinizing hormone level
MedGen UID:
868698
•Concept ID:
C4023101
•
Finding
An elevated concentration of luteinizing hormone in the blood.
See: Feature record | Search on this feature
Decreased serum testosterone concentration
MedGen UID:
892974
•Concept ID:
C4073137
•
Finding
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Toward clinical exomes in diagnostics and management of male infertility.
Lillepea K, Juchnewitsch AG, Kasak L, Valkna A, Dutta A, Pomm K, Poolamets O, Nagirnaja L, Tamp E, Mahyari E, Vihljajev V, Tjagur S, Papadimitriou S, Riera-Escamilla A, Versbraegen N, Farnetani G, Castillo-Madeen H, Sütt M, Kübarsepp V, Tennisberg S, Korrovits P, Krausz C, Aston KI, Lenaerts T, Conrad DF, Punab M, Laan M
Am J Hum Genet 2024 May 2;111(5):877-895. Epub 2024 Apr 12 doi: 10.1016/j.ajhg.2024.03.013. PMID: 38614076Free 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: 3935248Free PMC Article

Recent clinical studies

Etiology

Toward clinical exomes in diagnostics and management of male infertility.
Lillepea K, Juchnewitsch AG, Kasak L, Valkna A, Dutta A, Pomm K, Poolamets O, Nagirnaja L, Tamp E, Mahyari E, Vihljajev V, Tjagur S, Papadimitriou S, Riera-Escamilla A, Versbraegen N, Farnetani G, Castillo-Madeen H, Sütt M, Kübarsepp V, Tennisberg S, Korrovits P, Krausz C, Aston KI, Lenaerts T, Conrad DF, Punab M, Laan M
Am J Hum Genet 2024 May 2;111(5):877-895. Epub 2024 Apr 12 doi: 10.1016/j.ajhg.2024.03.013. PMID: 38614076Free PMC Article
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
A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships.
Houston BJ, Riera-Escamilla A, Wyrwoll MJ, Salas-Huetos A, Xavier MJ, Nagirnaja L, Friedrich C, Conrad DF, Aston KI, Krausz C, Tüttelmann F, O'Bryan MK, Veltman JA, Oud MS
Hum Reprod Update 2021 Dec 21;28(1):15-29. doi: 10.1093/humupd/dmab030. PMID: 34498060Free PMC Article
External and Genetic Conditions Determining Male Infertility.
Kamiński P, Baszyński J, Jerzak I, Kavanagh BP, Nowacka-Chiari E, Polanin M, Szymański M, Woźniak A, Kozera W
Int J Mol Sci 2020 Jul 24;21(15) doi: 10.3390/ijms21155274. PMID: 32722328Free PMC Article
The association between the two more common genetic causes of spermatogenic failure: a 7-year retrospective study.
Li HG, Fan LH, Liu B, Qian YQ, Chen M, Sun YX, Dong MY
Asian J Androl 2020 Nov-Dec;22(6):642-648. doi: 10.4103/aja.aja_13_20. PMID: 32362598Free PMC Article

Diagnosis

Toward clinical exomes in diagnostics and management of male infertility.
Lillepea K, Juchnewitsch AG, Kasak L, Valkna A, Dutta A, Pomm K, Poolamets O, Nagirnaja L, Tamp E, Mahyari E, Vihljajev V, Tjagur S, Papadimitriou S, Riera-Escamilla A, Versbraegen N, Farnetani G, Castillo-Madeen H, Sütt M, Kübarsepp V, Tennisberg S, Korrovits P, Krausz C, Aston KI, Lenaerts T, Conrad DF, Punab M, Laan M
Am J Hum Genet 2024 May 2;111(5):877-895. Epub 2024 Apr 12 doi: 10.1016/j.ajhg.2024.03.013. PMID: 38614076Free PMC Article
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
Actionable secondary findings following exome sequencing of 836 non-obstructive azoospermia cases and their value in patient management.
Kasak L, Lillepea K, Nagirnaja L, Aston KI, Schlegel PN, Gonçalves J, Carvalho F, Moreno-Mendoza D, Almstrup K, Eisenberg ML, Jarvi KA, O'Bryan MK, Lopes AM, Conrad DF; GEMINI Consortium, Punab M, Laan M
Hum Reprod 2022 Jun 30;37(7):1652-1663. doi: 10.1093/humrep/deac100. PMID: 35535697Free PMC Article
A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships.
Houston BJ, Riera-Escamilla A, Wyrwoll MJ, Salas-Huetos A, Xavier MJ, Nagirnaja L, Friedrich C, Conrad DF, Aston KI, Krausz C, Tüttelmann F, O'Bryan MK, Veltman JA, Oud MS
Hum Reprod Update 2021 Dec 21;28(1):15-29. doi: 10.1093/humupd/dmab030. PMID: 34498060Free PMC Article
External and Genetic Conditions Determining Male Infertility.
Kamiński P, Baszyński J, Jerzak I, Kavanagh BP, Nowacka-Chiari E, Polanin M, Szymański M, Woźniak A, Kozera W
Int J Mol Sci 2020 Jul 24;21(15) doi: 10.3390/ijms21155274. PMID: 32722328Free PMC Article

Therapy

Actionable secondary findings following exome sequencing of 836 non-obstructive azoospermia cases and their value in patient management.
Kasak L, Lillepea K, Nagirnaja L, Aston KI, Schlegel PN, Gonçalves J, Carvalho F, Moreno-Mendoza D, Almstrup K, Eisenberg ML, Jarvi KA, O'Bryan MK, Lopes AM, Conrad DF; GEMINI Consortium, Punab M, Laan M
Hum Reprod 2022 Jun 30;37(7):1652-1663. doi: 10.1093/humrep/deac100. PMID: 35535697Free PMC Article
Microdissection testicular sperm extraction (micro-TESE) in men with infertility due to nonobstructive azoospermia: summary of current literature.
Achermann APP, Pereira TA, Esteves SC
Int Urol Nephrol 2021 Nov;53(11):2193-2210. Epub 2021 Aug 19 doi: 10.1007/s11255-021-02979-4. PMID: 34410586
External and Genetic Conditions Determining Male Infertility.
Kamiński P, Baszyński J, Jerzak I, Kavanagh BP, Nowacka-Chiari E, Polanin M, Szymański M, Woźniak A, Kozera W
Int J Mol Sci 2020 Jul 24;21(15) doi: 10.3390/ijms21155274. PMID: 32722328Free PMC Article
Hydrogen Sulfide As a Potential Target in Preventing Spermatogenic Failure and Testicular Dysfunction.
Wang J, Wang W, Li S, Han Y, Zhang P, Meng G, Xiao Y, Xie L, Wang X, Sha J, Chen Q, Moore PK, Wang R, Xiang W, Ji Y
Antioxid Redox Signal 2018 Jun 1;28(16):1447-1462. Epub 2017 Oct 16 doi: 10.1089/ars.2016.6968. PMID: 28537489
Varicocele repair improves semen parameters in azoospermic men with spermatogenic failure.
Kim ED, Leibman BB, Grinblat DM, Lipshultz LI
J Urol 1999 Sep;162(3 Pt 1):737-40. doi: 10.1097/00005392-199909010-00031. PMID: 10458356

Prognosis

High serum FSH is not a risk factor for low bone mineral density in infertile men.
Antonio L, Priskorn L, Olesen IA, Petersen JH, Vanderschueren D, Jørgensen N
Bone 2020 Jul;136:115366. Epub 2020 Apr 15 doi: 10.1016/j.bone.2020.115366. PMID: 32304878
Copy number of DAZ genes in Slovenian and Bosnian general population.
Writzl K, Sehić A, Terzić R, Peterlin B
Coll Antropol 2004;28 Suppl 2:283-9. PMID: 15571102
Varicocele repair improves semen parameters in azoospermic men with spermatogenic failure.
Kim ED, Leibman BB, Grinblat DM, Lipshultz LI
J Urol 1999 Sep;162(3 Pt 1):737-40. doi: 10.1097/00005392-199909010-00031. PMID: 10458356
Follow-up of men in the recovery period immediately after the cessation of gossypol treatment.
Meng GD, Zhu JC, Chen ZW, Wong LT, Zhang GY, Hu YZ, Ding JH, Wang XH, Qian SZ, Wang C
Contraception 1988 Feb;37(2):119-28. doi: 10.1016/0010-7824(88)90122-9. PMID: 3131064
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: 3935248Free PMC Article

Clinical prediction guides

Toward clinical exomes in diagnostics and management of male infertility.
Lillepea K, Juchnewitsch AG, Kasak L, Valkna A, Dutta A, Pomm K, Poolamets O, Nagirnaja L, Tamp E, Mahyari E, Vihljajev V, Tjagur S, Papadimitriou S, Riera-Escamilla A, Versbraegen N, Farnetani G, Castillo-Madeen H, Sütt M, Kübarsepp V, Tennisberg S, Korrovits P, Krausz C, Aston KI, Lenaerts T, Conrad DF, Punab M, Laan M
Am J Hum Genet 2024 May 2;111(5):877-895. Epub 2024 Apr 12 doi: 10.1016/j.ajhg.2024.03.013. PMID: 38614076Free PMC Article
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
A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships.
Houston BJ, Riera-Escamilla A, Wyrwoll MJ, Salas-Huetos A, Xavier MJ, Nagirnaja L, Friedrich C, Conrad DF, Aston KI, Krausz C, Tüttelmann F, O'Bryan MK, Veltman JA, Oud MS
Hum Reprod Update 2021 Dec 21;28(1):15-29. doi: 10.1093/humupd/dmab030. PMID: 34498060Free PMC Article
High serum FSH is not a risk factor for low bone mineral density in infertile men.
Antonio L, Priskorn L, Olesen IA, Petersen JH, Vanderschueren D, Jørgensen N
Bone 2020 Jul;136:115366. Epub 2020 Apr 15 doi: 10.1016/j.bone.2020.115366. PMID: 32304878
Hydrogen Sulfide As a Potential Target in Preventing Spermatogenic Failure and Testicular Dysfunction.
Wang J, Wang W, Li S, Han Y, Zhang P, Meng G, Xiao Y, Xie L, Wang X, Sha J, Chen Q, Moore PK, Wang R, Xiang W, Ji Y
Antioxid Redox Signal 2018 Jun 1;28(16):1447-1462. Epub 2017 Oct 16 doi: 10.1089/ars.2016.6968. PMID: 28537489

Recent systematic reviews

A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships.
Houston BJ, Riera-Escamilla A, Wyrwoll MJ, Salas-Huetos A, Xavier MJ, Nagirnaja L, Friedrich C, Conrad DF, Aston KI, Krausz C, Tüttelmann F, O'Bryan MK, Veltman JA, Oud MS
Hum Reprod Update 2021 Dec 21;28(1):15-29. doi: 10.1093/humupd/dmab030. PMID: 34498060Free PMC Article

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