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Spermatogenic failure 32(SPGF32)

MedGen UID:
1648444
•Concept ID:
C4748253
•
Disease or Syndrome
Synonyms: SPERMATOGENIC FAILURE 32; SPGF32
 
Gene (location): SOHLH1 (9q34.3)
 
Monarch Initiative: MONDO:0020855
OMIM®: 618115

Definition

Spermatogenic failure-32 (SPGF32) is characterized by male infertility due to nonobstructive azoospermia. Testicular biopsy has shown absence of spermatogenic cells and a Sertoli cell-only pattern (Choi et al., 2010). For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see 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
Sertoli cell-only phenotype
MedGen UID:
1815061
•Concept ID:
C5706155
•
Finding
A histological phenotype observed on testicular biopsy in which only Sertoli cells line the seminiferous tubules of the testis.
See: Feature record | Search on this feature

Recent clinical studies

Etiology

Detection of partial and/or complete Y chromosome microdeletions of azoospermia factor a (AZFa) sub-region in infertile Iraqi patients with azoospermia and severe oligozoospermia.
S Al-Ouqaili MT, Al-Ani SK, Alaany R, Al-Qaisi MN
J Clin Lab Anal 2022 Mar;36(3):e24272. Epub 2022 Feb 5 doi: 10.1002/jcla.24272. PMID: 35122324Free PMC Article
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
A common 1.6 mb Y-chromosomal inversion predisposes to subsequent deletions and severe spermatogenic failure in humans.
Hallast P, Kibena L, Punab M, Arciero E, Rootsi S, Grigorova M, Flores R, Jobling MA, Poolamets O, Pomm K, Korrovits P, Rull K, Xue Y, Tyler-Smith C, Laan M
Elife 2021 Mar 30;10 doi: 10.7554/eLife.65420. PMID: 33781384Free 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
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

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
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
Copy number variations in spermatogenic failure patients with chromosomal abnormalities and unexplained azoospermia.
Dong Y, Pan Y, Wang R, Zhang Z, Xi Q, Liu RZ
Genet Mol Res 2015 Dec 7;14(4):16041-9. doi: 10.4238/2015.December.7.17. PMID: 26662397
45,X karyotype in an infertile man: how is this possible?
Amaro A, Mafra FA, Valada Pane CE, Kulikowski LD, Bianco B, Barbosa CP, Christofolini DM
Urol Int 2015;94(4):488-90. Epub 2014 Aug 20 doi: 10.1159/000365010. PMID: 25170625
Frequency of microdeletions in the azoospermia factor region of the Y-chromosome of New Zealand men.
Kerr NJ, Zhang J, Sin FY, Benny P, Sin IL
N Z Med J 2000 Nov 10;113(1121):468-70. PMID: 11194754

Therapy

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
Risk Y-haplotypes and pathogenic variants of Arab-ancestry boys with autism by an exome-wide association study.
Alsubaie LM, Alsuwat HS, Almandil NB, AlSulaiman A, AbdulAzeez S, Borgio JF
Mol Biol Rep 2020 Oct;47(10):7623-7632. Epub 2020 Sep 29 doi: 10.1007/s11033-020-05832-6. PMID: 32996047

Prognosis

Outcomes of partial intussusception and endo-to-side vasoepididymostomy in men with epididymal obstructive azoospermia.
Shiraishi K, Matsuyama H
Int J Urol 2020 Dec;27(12):1124-1129. Epub 2020 Sep 11 doi: 10.1111/iju.14368. PMID: 32914440
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
MAEL promoter hypermethylation is associated with de-repression of LINE-1 in human hypospermatogenesis.
Cheng YS, Wee SK, Lin TY, Lin YM
Hum Reprod 2017 Dec 1;32(12):2373-2381. doi: 10.1093/humrep/dex329. PMID: 29095993
45,X karyotype in an infertile man: how is this possible?
Amaro A, Mafra FA, Valada Pane CE, Kulikowski LD, Bianco B, Barbosa CP, Christofolini DM
Urol Int 2015;94(4):488-90. Epub 2014 Aug 20 doi: 10.1159/000365010. PMID: 25170625
Y-chromosome AZFc structural architecture and relationship to male fertility.
Ravel C, Chantot-Bastaraud S, El Houate B, Rouba H, Legendre M, Lorenço D, Mandelbaum J, Siffroi JP, McElreavey K
Fertil Steril 2009 Dec;92(6):1924-33. Epub 2008 Nov 6 doi: 10.1016/j.fertnstert.2008.08.135. PMID: 18990391

Clinical prediction guides

Outcomes of partial intussusception and endo-to-side vasoepididymostomy in men with epididymal obstructive azoospermia.
Shiraishi K, Matsuyama H
Int J Urol 2020 Dec;27(12):1124-1129. Epub 2020 Sep 11 doi: 10.1111/iju.14368. PMID: 32914440
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
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
MAEL promoter hypermethylation is associated with de-repression of LINE-1 in human hypospermatogenesis.
Cheng YS, Wee SK, Lin TY, Lin YM
Hum Reprod 2017 Dec 1;32(12):2373-2381. doi: 10.1093/humrep/dex329. PMID: 29095993
Factor V Leiden is associated with increased sperm count.
van Mens TE, Joensen UN, Bochdanovits Z, Takizawa A, Peter J, Jørgensen N, Szecsi PB, Meijers JCM, Weiler H, Rajpert-De Meyts E, Repping S, Middeldorp S
Hum Reprod 2017 Nov 1;32(11):2332-2339. doi: 10.1093/humrep/dex287. PMID: 28927238

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

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