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Spermatogenic failures 50(SPGF50)

MedGen UID:
1747507
•Concept ID:
C5436888
•
Disease or Syndrome
Synonym: SPERMATOGENIC FAILURE 50
 
Gene (location): XRCC2 (7q36.1)
 
Monarch Initiative: MONDO:0030869
OMIM®: 619145

Definition

Spermatogenic failure-50 (SPGF50) is characterized by male infertility due to azoospermia resulting from meiotic arrest at prophase I (Yang et al., 2018). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

Clinical features

From HPO
Azoospermia
MedGen UID:
2150
•Concept ID:
C0004509
•
Disease or Syndrome
Absence of any measurable level of sperm in his semen.
See: Feature record | Search on this feature
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
Spermatogenesis maturation arrest
MedGen UID:
1374029
•Concept ID:
C4477100
•
Finding
Maturation arrest (MA) is defined as germ cells that fail to complete maturation. Uniform MA is characterized by spermatogenic arrest at the same stage of spermatogenesis throughout the seminiferous tubules. MA is subcategorized into early MA, in which only spermatogonia or spermatocytes are found, and late MA, in which spermatids are detected without spermatozoa.
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

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 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
Detection of chlamydia infection within human testicular biopsies.
Bryan ER, McLachlan RI, Rombauts L, Katz DJ, Yazdani A, Bogoevski K, Chang C, Giles ML, Carey AJ, Armitage CW, Trim LK, McLaughlin EA, Beagley KW
Hum Reprod 2019 Oct 2;34(10):1891-1898. doi: 10.1093/humrep/dez169. PMID: 31586185Free PMC Article
Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1.
Lopes AM, Aston KI, Thompson E, Carvalho F, Gonçalves J, Huang N, Matthiesen R, Noordam MJ, Quintela I, Ramu A, Seabra C, Wilfert AB, Dai J, Downie JM, Fernandes S, Guo X, Sha J, Amorim A, Barros A, Carracedo A, Hu Z, Hurles ME, Moskovtsev S, Ober C, Paduch DA, Schiffman JD, Schlegel PN, Sousa M, Carrell DT, Conrad DF
PLoS Genet 2013 Mar;9(3):e1003349. Epub 2013 Mar 21 doi: 10.1371/journal.pgen.1003349. PMID: 23555275Free PMC Article
The Y chromosome-linked copy number variations and male fertility.
Krausz C, Chianese C, Giachini C, Guarducci E, Laface I, Forti G
J Endocrinol Invest 2011 May;34(5):376-82. Epub 2011 Mar 21 doi: 10.1007/BF03347463. PMID: 21422806

Diagnosis

Detection of chlamydia infection within human testicular biopsies.
Bryan ER, McLachlan RI, Rombauts L, Katz DJ, Yazdani A, Bogoevski K, Chang C, Giles ML, Carey AJ, Armitage CW, Trim LK, McLaughlin EA, Beagley KW
Hum Reprod 2019 Oct 2;34(10):1891-1898. doi: 10.1093/humrep/dez169. PMID: 31586185Free PMC Article
Non-syndromic monogenic male infertility.
Guerri G, Maniscalchi T, Barati S, Busetto GM, Del Giudice F, De Berardinis E, Cannarella R, Calogero AE, Bertelli M
Acta Biomed 2019 Sep 30;90(10-S):62-67. doi: 10.23750/abm.v90i10-S.8762. PMID: 31577257Free PMC Article
The Y chromosome-linked copy number variations and male fertility.
Krausz C, Chianese C, Giachini C, Guarducci E, Laface I, Forti G
J Endocrinol Invest 2011 May;34(5):376-82. Epub 2011 Mar 21 doi: 10.1007/BF03347463. PMID: 21422806
Genetics of human male infertility.
Poongothai J, Gopenath TS, Manonayaki S
Singapore Med J 2009 Apr;50(4):336-47. PMID: 19421675
New concepts in Klinefelter syndrome.
Paduch DA, Fine RG, Bolyakov A, Kiper J
Curr Opin Urol 2008 Nov;18(6):621-7. doi: 10.1097/MOU.0b013e32831367c7. PMID: 18832949

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
Genetics of human male infertility.
Poongothai J, Gopenath TS, Manonayaki S
Singapore Med J 2009 Apr;50(4):336-47. PMID: 19421675
New concepts in Klinefelter syndrome.
Paduch DA, Fine RG, Bolyakov A, Kiper J
Curr Opin Urol 2008 Nov;18(6):621-7. doi: 10.1097/MOU.0b013e32831367c7. PMID: 18832949
Primary male infertility in Kuwait: a cytogenetic and molecular study of 289 infertile Kuwaiti patients.
Mohammed F, Al-Yatama F, Al-Bader M, Tayel SM, Gouda S, Naguib KK
Andrologia 2007 Jun;39(3):87-92. doi: 10.1111/j.1439-0272.2007.00769.x. PMID: 17683468
Contraceptive efficacy of a depot progestin and androgen combination in men.
Turner L, Conway AJ, Jimenez M, Liu PY, Forbes E, McLachlan RI, Handelsman DJ
J Clin Endocrinol Metab 2003 Oct;88(10):4659-67. doi: 10.1210/jc.2003-030107. PMID: 14557437

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
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
The Y chromosome-linked copy number variations and male fertility.
Krausz C, Chianese C, Giachini C, Guarducci E, Laface I, Forti G
J Endocrinol Invest 2011 May;34(5):376-82. Epub 2011 Mar 21 doi: 10.1007/BF03347463. PMID: 21422806
Prognostic value of Y deletion analysis: what is the clinical prognostic value of Y chromosome microdeletion analysis?
Krausz C, Quintana-Murci L, McElreavey K
Hum Reprod 2000 Jul;15(7):1431-4. doi: 10.1093/humrep/15.7.1431. PMID: 10875846

Clinical prediction guides

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
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
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
Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1.
Bashamboo A, Ferraz-de-Souza B, Lourenço D, Lin L, Sebire NJ, Montjean D, Bignon-Topalovic J, Mandelbaum J, Siffroi JP, Christin-Maitre S, Radhakrishna U, Rouba H, Ravel C, Seeler J, Achermann JC, McElreavey K
Am J Hum Genet 2010 Oct 8;87(4):505-12. doi: 10.1016/j.ajhg.2010.09.009. PMID: 20887963Free PMC Article
AZFc partial deletions in Chilean men with severe spermatogenic failure.
Lardone MC, Parodi DA, Ebensperger M, Peñaloza P, Cornejo V, Valdevenito R, Pommer R, Castro A
Fertil Steril 2007 Nov;88(5):1318-26. Epub 2007 Apr 9 doi: 10.1016/j.fertnstert.2007.01.038. PMID: 17416365

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