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Spermatogenic failure 51(SPGF51)

MedGen UID:
1780365
•Concept ID:
C5543033
•
Disease or Syndrome
Synonyms: SPERMATOGENIC FAILURE 51; SPGF51
 
Gene (location): CFAP91 (3q13.33)
 
Monarch Initiative: MONDO:0030926
OMIM®: 619177

Definition

Spermatogenic failure-51 (SPGF51) is characterized by male infertility due to severe asthenoteratozoospermia. Patients exhibit multiple morphologic abnormalities of the flagella (MMAF), including absent, short, bent, coiled, and irregular-caliber tails, resulting in severely reduced to absent motility. Abnormalities of the sperm head, base, and acrosome have also been observed (Martinez et al., 2020). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

Clinical features

From HPO
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.
See: Feature record | Search on this feature
Reduced sperm motility
MedGen UID:
907698
•Concept ID:
C4082176
•
Finding
An abnormal reduction in the mobility of ejaculated sperm.
See: Feature record | Search on this feature
Macrozoospermia
MedGen UID:
1393298
•Concept ID:
C4476776
•
Finding
Increased size of the head of sperm.
See: Feature record | Search on this feature
Absent sperm flagella
MedGen UID:
1623855
•Concept ID:
C4539786
•
Finding
Sperm cells lacking flagella.
See: Feature record | Search on this feature
Short sperm flagella
MedGen UID:
1623693
•Concept ID:
C4539787
•
Finding
Sperm cells with abnormally short flagella.
See: Feature record | Search on this feature
Coiled sperm flagella
MedGen UID:
1611216
•Concept ID:
C4539789
•
Finding
Sperm cells whose flagella are twisted (coiled).
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
Irregularly shaped sperm tail
MedGen UID:
1687959
•Concept ID:
C5233737
•
Finding
Irregular or changing caliber (diameter) along the tail of the sperm.
See: Feature record | Search on this feature
Absent sperm axoneme central pair complex
MedGen UID:
1785608
•Concept ID:
C5539658
•
Finding
Absence of the central pair of microtubules in the sperm axoneme, thereby forming a 9+0 pattern instead of the normal 9+2 pattern.
See: Feature record | Search on this feature

Professional guidelines

PubMed

In-vitro fertilization treatment for severe male factor: the fertilization potential of immotile spermatozoa obtained by testicular extraction.
Shulman A, Feldman B, Madgar I, Levron J, Mashiach S, Dor J
Hum Reprod 1999 Mar;14(3):749-52. doi: 10.1093/humrep/14.3.749. PMID: 10221708

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: 34429122Free PMC Article
Intronic variation of the SOHLH2 gene confers risk to male reproductive impairment.
Cerván-Martín M, Suazo-Sánchez MI, Rivera-Egea R, Garrido N, Luján S, Romeu G, Santos-Ribeiro S, Castilla JA, Gonzalvo MC, Clavero A, Vicente FJ, Maldonado V, 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, Palomino-Morales RJ, Carmona FD; Lisbon Clinical Group; IVIRMA Group
Fertil Steril 2020 Aug;114(2):398-406. Epub 2020 Jul 18 doi: 10.1016/j.fertnstert.2020.02.115. PMID: 32690270
The Association of Partial Azoospermia Factor C Deletions and Male Infertility in Northwestern China.
Liu C, Zhao X, Mu C, Li H, Ma J, Jiao H, Huo Z
Hum Hered 2019;84(3):144-150. Epub 2019 Dec 5 doi: 10.1159/000504607. PMID: 31805572
Isodicentric Y chromosomes and sex disorders as byproducts of homologous recombination that maintains palindromes.
Lange J, Skaletsky H, van Daalen SK, Embry SL, Korver CM, Brown LG, Oates RD, Silber S, Repping S, Page DC
Cell 2009 Sep 4;138(5):855-69. doi: 10.1016/j.cell.2009.07.042. PMID: 19737515Free PMC Article
1H nuclear magnetic resonance studies of seminal plasma from fertile and infertile men.
Hamamah S, Seguin F, Barthelemy C, Akoka S, Le Pape A, Lansac J, Royere D
J Reprod Fertil 1993 Jan;97(1):51-5. doi: 10.1530/jrf.0.0970051. PMID: 8464025

Diagnosis

Testicular Growth and Pubertal Onset in GH-Deficient Children Treated With Growth Hormone: A Retrospective Study.
Cannarella R, Caruso M, Crafa A, Timpanaro TA, Lo Bianco M, Presti S, Condorelli RA, La Vignera S, Calogero AE
Front Endocrinol (Lausanne) 2021;12:619895. Epub 2021 Apr 2 doi: 10.3389/fendo.2021.619895. PMID: 33868165Free PMC Article
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
Intronic variation of the SOHLH2 gene confers risk to male reproductive impairment.
Cerván-Martín M, Suazo-Sánchez MI, Rivera-Egea R, Garrido N, Luján S, Romeu G, Santos-Ribeiro S, Castilla JA, Gonzalvo MC, Clavero A, Vicente FJ, Maldonado V, 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, Palomino-Morales RJ, Carmona FD; Lisbon Clinical Group; IVIRMA Group
Fertil Steril 2020 Aug;114(2):398-406. Epub 2020 Jul 18 doi: 10.1016/j.fertnstert.2020.02.115. PMID: 32690270
Mutations in the chromosome pairing gene FKBP6 are not a common cause of non-obstructive azoospermia.
Westerveld GH, Repping S, Lombardi MP, van der Veen F
Mol Hum Reprod 2005 Sep;11(9):673-5. Epub 2005 Oct 14 doi: 10.1093/molehr/gah232. PMID: 16227348
Identification of spermatozoa and round spermatids in the ejaculates of men with spermatogenic failure.
Hendin BN, Patel B, Levin HS, Thomas AJ Jr, Agarwal A
Urology 1998 May;51(5):816-9. doi: 10.1016/s0090-4295(98)00007-7. PMID: 9610597

Therapy

Testicular Growth and Pubertal Onset in GH-Deficient Children Treated With Growth Hormone: A Retrospective Study.
Cannarella R, Caruso M, Crafa A, Timpanaro TA, Lo Bianco M, Presti S, Condorelli RA, La Vignera S, Calogero AE
Front Endocrinol (Lausanne) 2021;12:619895. Epub 2021 Apr 2 doi: 10.3389/fendo.2021.619895. PMID: 33868165Free PMC Article

Prognosis

Testicular Growth and Pubertal Onset in GH-Deficient Children Treated With Growth Hormone: A Retrospective Study.
Cannarella R, Caruso M, Crafa A, Timpanaro TA, Lo Bianco M, Presti S, Condorelli RA, La Vignera S, Calogero AE
Front Endocrinol (Lausanne) 2021;12:619895. Epub 2021 Apr 2 doi: 10.3389/fendo.2021.619895. PMID: 33868165Free PMC Article

Clinical prediction guides

Testicular Growth and Pubertal Onset in GH-Deficient Children Treated With Growth Hormone: A Retrospective Study.
Cannarella R, Caruso M, Crafa A, Timpanaro TA, Lo Bianco M, Presti S, Condorelli RA, La Vignera S, Calogero AE
Front Endocrinol (Lausanne) 2021;12:619895. Epub 2021 Apr 2 doi: 10.3389/fendo.2021.619895. PMID: 33868165Free PMC Article
Intronic variation of the SOHLH2 gene confers risk to male reproductive impairment.
Cerván-Martín M, Suazo-Sánchez MI, Rivera-Egea R, Garrido N, Luján S, Romeu G, Santos-Ribeiro S, Castilla JA, Gonzalvo MC, Clavero A, Vicente FJ, Maldonado V, 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, Palomino-Morales RJ, Carmona FD; Lisbon Clinical Group; IVIRMA Group
Fertil Steril 2020 Aug;114(2):398-406. Epub 2020 Jul 18 doi: 10.1016/j.fertnstert.2020.02.115. PMID: 32690270
Isodicentric Y chromosomes and sex disorders as byproducts of homologous recombination that maintains palindromes.
Lange J, Skaletsky H, van Daalen SK, Embry SL, Korver CM, Brown LG, Oates RD, Silber S, Repping S, Page DC
Cell 2009 Sep 4;138(5):855-69. doi: 10.1016/j.cell.2009.07.042. PMID: 19737515Free PMC Article
Study of AZFc partial deletion gr/gr in fertile and infertile Japanese males.
de Carvalho CMB, Zuccherato LW, Fujisawa M, Shirakawa T, Ribeiro-Dos-Santos AKC, Santos SEB, Pena SDJ, Santos FR
J Hum Genet 2006;51(9):794-799. Epub 2006 Aug 10 doi: 10.1007/s10038-006-0024-2. PMID: 16900294

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