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Spermatogenic failure 78(SPGF78)

MedGen UID:
1824049
•Concept ID:
C5774276
•
Disease or Syndrome
Synonyms: SPERMATOGENIC FAILURE 78; SPGF78
 
Gene (location): IQCN (19p13.11)
 
Monarch Initiative: MONDO:0859338
OMIM®: 620170

Definition

Spermatogenic failure-78 (SPGF78) is characterized by male infertility resulting from an abnormal acrosome structure due to a manchette assembly defect (Dai 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
Tapered sperm head
MedGen UID:
1635505
•Concept ID:
C2208973
•
Finding
Sperm with cigar-shaped heads that gradually dimish in diameter (taper).
See: Feature record | Search on this feature
Microcephalic sperm head
MedGen UID:
1640115
•Concept ID:
C4693760
•
Finding
Decreased size of the head of sperm.
See: Feature record | Search on this feature
Repeated implantation failure
MedGen UID:
1779076
•Concept ID:
C5539773
•
Finding
Repeated implantation failure refers to a situation in which embryos of good quality fail to implant following several in vitro fertilization (IVF) treatment cycles.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

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

Systematic molecular analyses for 115 karyotypically normal men with isolated non-obstructive azoospermia.
Muranishi Y, Kobori Y, Katoh-Fukui Y, Tamaoka S, Hattori A, Osaka A, Okada H, Nakabayashi K, Hata K, Kawai T, Ogata-Kawata H, Iwahata T, Saito K, Kon M, Shinohara N, Fukami M
Hum Reprod 2024 May 2;39(5):1131-1140. doi: 10.1093/humrep/deae057. PMID: 38511217
Comparison of intracytoplasmic sperm injection (ICSI) outcomes in infertile men with spermatogenic impairment of differing severity.
Ping P, Zheng Z, Ma Y, Zou SS, Chen XF
Asian J Androl 2022 May-Jun;24(3):299-304. doi: 10.4103/aja202151. PMID: 34677147Free PMC Article
Effect and in silico characterization of genetic variants associated with severe spermatogenic disorders in a large Iberian cohort.
Cerván-Martín M, Bossini-Castillo L, Rivera-Egea R, Garrido N, Luján S, Romeu G, Santos-Ribeiro S; IVIRMA Group, Lisbon Clinical Group, Castilla JA, Gonzalvo MDC, Clavero A, Vicente FJ, Guzmán-Jiménez A, Burgos M, Barrionuevo FJ, Jiménez R, Sánchez-Curbelo J, López-Rodrigo O, Peraza MF, Pereira-Caetano I, Marques PI, Carvalho F, Barros A, Bassas L, Seixas S, Gonçalves J, Larriba S, Lopes AM, Carmona FD, Palomino-Morales RJ
Andrology 2021 Jul;9(4):1151-1165. Epub 2021 Apr 20 doi: 10.1111/andr.13009. PMID: 33784440
A systematic review and standardized clinical validity assessment of male infertility genes.
Oud MS, Volozonoka L, Smits RM, Vissers LELM, Ramos L, Veltman JA
Hum Reprod 2019 May 1;34(5):932-941. doi: 10.1093/humrep/dez022. PMID: 30865283Free PMC Article
Y chromosome b2/b3 deletions and male infertility: A comprehensive meta-analysis, trial sequential analysis and systematic review.
Bansal SK, Gupta G, Rajender S
Mutat Res Rev Mutat Res 2016 Apr-Jun;768:78-90. Epub 2016 May 4 doi: 10.1016/j.mrrev.2016.04.007. PMID: 27234565

Diagnosis

Systematic molecular analyses for 115 karyotypically normal men with isolated non-obstructive azoospermia.
Muranishi Y, Kobori Y, Katoh-Fukui Y, Tamaoka S, Hattori A, Osaka A, Okada H, Nakabayashi K, Hata K, Kawai T, Ogata-Kawata H, Iwahata T, Saito K, Kon M, Shinohara N, Fukami M
Hum Reprod 2024 May 2;39(5):1131-1140. doi: 10.1093/humrep/deae057. PMID: 38511217
A systematic review and standardized clinical validity assessment of male infertility genes.
Oud MS, Volozonoka L, Smits RM, Vissers LELM, Ramos L, Veltman JA
Hum Reprod 2019 May 1;34(5):932-941. doi: 10.1093/humrep/dez022. PMID: 30865283Free PMC Article
New insights into the genetics of spermatogenic failure: a review of the literature.
Cannarella R, Condorelli RA, Duca Y, La Vignera S, Calogero AE
Hum Genet 2019 Feb;138(2):125-140. Epub 2019 Jan 17 doi: 10.1007/s00439-019-01974-1. PMID: 30656449
When is azoospermic infertility treatable without intracytoplasmic sperm injection?
McLachlan RI
Clin Endocrinol (Oxf) 2013 Feb;78(2):176-80. doi: 10.1111/cen.12026. PMID: 22998070

Therapy

Systematic molecular analyses for 115 karyotypically normal men with isolated non-obstructive azoospermia.
Muranishi Y, Kobori Y, Katoh-Fukui Y, Tamaoka S, Hattori A, Osaka A, Okada H, Nakabayashi K, Hata K, Kawai T, Ogata-Kawata H, Iwahata T, Saito K, Kon M, Shinohara N, Fukami M
Hum Reprod 2024 May 2;39(5):1131-1140. doi: 10.1093/humrep/deae057. PMID: 38511217
Y chromosome b2/b3 deletions and male infertility: A comprehensive meta-analysis, trial sequential analysis and systematic review.
Bansal SK, Gupta G, Rajender S
Mutat Res Rev Mutat Res 2016 Apr-Jun;768:78-90. Epub 2016 May 4 doi: 10.1016/j.mrrev.2016.04.007. PMID: 27234565

Prognosis

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

Screening for AZFc partial deletions in Dravidian men with nonobstructive azoospermia and oligozoospermia.
Vijesh VV, Nambiar V, Mohammed SI, Sukumaran S, Suganthi R
Genet Test Mol Biomarkers 2015 Mar;19(3):150-5. Epub 2015 Jan 16 doi: 10.1089/gtmb.2014.0251. PMID: 25594150Free PMC Article
Y-chromosome microdeletions are not associated with SHOX haploinsufficiency.
Chianese C, Lo Giacco D, Tüttelmann F, Ferlin A, Ntostis P, Vinci S, Balercia G, Ars E, Ruiz-Castañé E, Giglio S, Forti G, Kliesch S, Krausz C
Hum Reprod 2013 Nov;28(11):3155-60. Epub 2013 Sep 5 doi: 10.1093/humrep/det322. PMID: 24008148

Recent systematic reviews

A systematic review and standardized clinical validity assessment of male infertility genes.
Oud MS, Volozonoka L, Smits RM, Vissers LELM, Ramos L, Veltman JA
Hum Reprod 2019 May 1;34(5):932-941. doi: 10.1093/humrep/dez022. PMID: 30865283Free PMC Article
Y chromosome b2/b3 deletions and male infertility: A comprehensive meta-analysis, trial sequential analysis and systematic review.
Bansal SK, Gupta G, Rajender S
Mutat Res Rev Mutat Res 2016 Apr-Jun;768:78-90. Epub 2016 May 4 doi: 10.1016/j.mrrev.2016.04.007. PMID: 27234565

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