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Spermatogenic failure 92(SPGF92)

MedGen UID:: 1856349
•Concept ID:: C5935625
•: Disease or Syndrome

Synonyms:	SPERMATOGENIC FAILURE 92; SPGF92

Gene (location): Gene(s) directly associated with this condition or phenotype.	LRRC23 (12p13.31)

Monarch Initiative:	MONDO:0970999
OMIM®:	620848

Definition

Spermatogenic failure-92 (SPGF92) is characterized by male infertility due to asthenozoospermia. Despite markedly reduced progressive motility, sperm morphology may appear normal on light microscopy, or show short or irregular-caliber flagella. Ultrastructural analysis of axonemal cross-sections reveals defects of the radial spokes and doublet microtubules (Li et al., 2023; Hwang et al., 2023). 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.

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Oligozoospermia

MedGen UID:: 678638
•Concept ID:: C0868910
•: Finding

Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen.

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Reduced sperm motility

MedGen UID:: 907698
•Concept ID:: C4082176
•: Finding

An abnormal reduction in the mobility of ejaculated sperm.

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Absent sperm flagella

MedGen UID:: 1623855
•Concept ID:: C4539786
•: Finding

Sperm cells lacking flagella.

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Short sperm flagella

MedGen UID:: 1623693
•Concept ID:: C4539787
•: Finding

Sperm cells with abnormally short flagella.

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Bent sperm flagella

MedGen UID:: 1622332
•Concept ID:: C4539788
•: Finding

The proportion of sperm cells whose flagella is sharply curved or has a sharp angle is above normal limits.

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Coiled sperm flagella

MedGen UID:: 1611216
•Concept ID:: C4539789
•: Finding

Sperm cells whose flagella are twisted (coiled).

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Reduced progressive sperm motility

MedGen UID:: 1730031
•Concept ID:: C5436680
•: Finding

A reduced proportion of sperm that move in a straight line or large circles; alternatively, an increased proportion of sperm that move in tight circles or in some other non-linear fashion.

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Abnormality of the genitourinary system

Recent clinical studies

Etiology

Novel variants in helicase for meiosis 1 lead to male infertility due to non-obstructive azoospermia.

Tang D, Lv M, Gao Y, Cheng H, Li K, Xu C, Geng H, Li G, Shen Q, Wang C, He X, Cao Y
Reprod Biol Endocrinol 2021 Aug 24;19(1):129. doi: 10.1186/s12958-021-00815-z. PMID: 34429122 Free PMC Article

Monogenic causes of non-obstructive azoospermia: challenges, established knowledge, limitations and perspectives.

Kasak L, Laan M
Hum Genet 2021 Jan;140(1):135-154. Epub 2020 Jan 18 doi: 10.1007/s00439-020-02112-y. PMID: 31955275

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: 32362598 Free 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: 30865283 Free PMC Article

Approach to the infertile man.

Bhasin S
J Clin Endocrinol Metab 2007 Jun;92(6):1995-2004. doi: 10.1210/jc.2007-0634. PMID: 17554051

See all (9)

Diagnosis

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: 30865283 Free PMC Article

Sperm DNA fragmentation levels in testicular sperm samples from azoospermic males as assessed by the sperm chromatin dispersion (SCD) test.

Meseguer M, Santiso R, Garrido N, Gil-Salom M, Remohí J, Fernandez JL
Fertil Steril 2009 Nov;92(5):1638-45. Epub 2008 Nov 11 doi: 10.1016/j.fertnstert.2008.08.106. PMID: 19006791

Approach to the infertile man.

Bhasin S
J Clin Endocrinol Metab 2007 Jun;92(6):1995-2004. doi: 10.1210/jc.2007-0634. PMID: 17554051

Defining regions of the Y-chromosome responsible for male infertility and identification of a fourth AZF region (AZFd) by Y-chromosome microdeletion detection.

Kent-First M, Muallem A, Shultz J, Pryor J, Roberts K, Nolten W, Meisner L, Chandley A, Gouchy G, Jorgensen L, Havighurst T, Grosch J
Mol Reprod Dev 1999 May;53(1):27-41. doi: 10.1002/(SICI)1098-2795(199905)53:1<27::AID-MRD4>3.0.CO;2-W. PMID: 10230814

See all (4)

Therapy

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

See all (1)

Prognosis

Monogenic causes of non-obstructive azoospermia: challenges, established knowledge, limitations and perspectives.

Kasak L, Laan M
Hum Genet 2021 Jan;140(1):135-154. Epub 2020 Jan 18 doi: 10.1007/s00439-020-02112-y. PMID: 31955275

Decrease in semen quality and Leydig cell function in infertile men: a longitudinal study.

Olesen IA, Joensen UN, Petersen JH, Almstrup K, Rajpert-De Meyts E, Carlsen E, McLachlan R, Juul A, Jørgensen N
Hum Reprod 2018 Nov 1;33(11):1963-1974. doi: 10.1093/humrep/dey283. PMID: 30247578

Sperm DNA fragmentation levels in testicular sperm samples from azoospermic males as assessed by the sperm chromatin dispersion (SCD) test.

Meseguer M, Santiso R, Garrido N, Gil-Salom M, Remohí J, Fernandez JL
Fertil Steril 2009 Nov;92(5):1638-45. Epub 2008 Nov 11 doi: 10.1016/j.fertnstert.2008.08.106. PMID: 19006791

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

See all (4)

Clinical prediction guides

Molecular diversity and phenotypic pleiotropy of ancient genomic regulatory loci derived from human endogenous retrovirus type H (HERVH) promoter LTR7 and HERVK promoter LTR5_Hs and their contemporary impacts on pathophysiology of Modern Humans.

Glinsky GV
Mol Genet Genomics 2022 Nov;297(6):1711-1740. Epub 2022 Sep 19 doi: 10.1007/s00438-022-01954-7. PMID: 36121513 Free PMC Article

Testicular quantitative ultrasound: A noninvasive monitoring method for evaluating spermatogenic function in busulfan-induced testicular injury mouse models.

Huang WL, Ding L, Yao JH, Hu HT, Gao Y, Xie XY, Lu MD, Deng CH, Xie Y, Wang Z
Andrologia 2021 Mar;53(2):e13927. Epub 2020 Dec 23 doi: 10.1111/and.13927. PMID: 33355959

Monogenic causes of non-obstructive azoospermia: challenges, established knowledge, limitations and perspectives.

Kasak L, Laan M
Hum Genet 2021 Jan;140(1):135-154. Epub 2020 Jan 18 doi: 10.1007/s00439-020-02112-y. PMID: 31955275

Decrease in semen quality and Leydig cell function in infertile men: a longitudinal study.

Olesen IA, Joensen UN, Petersen JH, Almstrup K, Rajpert-De Meyts E, Carlsen E, McLachlan R, Juul A, Jørgensen N
Hum Reprod 2018 Nov 1;33(11):1963-1974. doi: 10.1093/humrep/dey283. PMID: 30247578

Y-chromosome AZFc structural architecture and relationship to male fertility.

See all (6)

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: 30865283 Free PMC Article

See all (1)

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Spermatogenic failure 92(SPGF92)

Definition

Clinical features

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

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