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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,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet.
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.
Decreased testicular size
MedGen UID:
66027
Concept ID:
C0241355
Finding
Reduced volume of the testicle (the male gonad).
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.

Professional guidelines

PubMed

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

Fietz D, Sgaier R, O'Donnell L, Stanton PG, Dagley LF, Webb AI, Schuppe HC, Diemer T, Pilatz A
Front Endocrinol (Lausanne) 2024;15:1327800. Epub 2024 Apr 9 doi: 10.3389/fendo.2024.1327800. PMID: 38654926Free PMC Article
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
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
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
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

Fietz D, Sgaier R, O'Donnell L, Stanton PG, Dagley LF, Webb AI, Schuppe HC, Diemer T, Pilatz A
Front Endocrinol (Lausanne) 2024;15:1327800. Epub 2024 Apr 9 doi: 10.3389/fendo.2024.1327800. PMID: 38654926Free PMC Article
Juchnewitsch AG, Pomm K, Dutta A, Tamp E, Valkna A, Lillepea K, Mahyari E, Tjagur S, Belova G, Kübarsepp V, Castillo-Madeen H, Riera-Escamilla A, Põlluaas L, Nagirnaja L, Poolamets O, Vihljajev V, Sütt M, Versbraegen N, Papadimitriou S, McLachlan RI, Jarvi KA, Schlegel PN, Tennisberg S, Korrovits P, Vigh-Conrad K, O'Bryan MK, Aston KI, Lenaerts T, Conrad DF, Kasak L, Punab M, Laan M
Front Endocrinol (Lausanne) 2024;15:1312357. Epub 2024 Apr 9 doi: 10.3389/fendo.2024.1312357. PMID: 38654924Free PMC Article
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
Poongothai J, Gopenath TS, Manonayaki S
Singapore Med J 2009 Apr;50(4):336-47. PMID: 19421675
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

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
Poongothai J, Gopenath TS, Manonayaki S
Singapore Med J 2009 Apr;50(4):336-47. PMID: 19421675
Paduch DA, Fine RG, Bolyakov A, Kiper J
Curr Opin Urol 2008 Nov;18(6):621-7. doi: 10.1097/MOU.0b013e32831367c7. PMID: 18832949
Watanabe M, Yoshida R, Ueoka K, Aoki K, Sasagawa I, Hasegawa T, Sueoka K, Kamatani N, Yoshimura Y, Ogata T
Hum Reprod 2007 May;22(5):1279-84. Epub 2007 Feb 5 doi: 10.1093/humrep/del513. PMID: 17283037
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

Fietz D, Sgaier R, O'Donnell L, Stanton PG, Dagley LF, Webb AI, Schuppe HC, Diemer T, Pilatz A
Front Endocrinol (Lausanne) 2024;15:1327800. Epub 2024 Apr 9 doi: 10.3389/fendo.2024.1327800. PMID: 38654926Free PMC Article
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
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
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
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

Clinical prediction guides

Fietz D, Sgaier R, O'Donnell L, Stanton PG, Dagley LF, Webb AI, Schuppe HC, Diemer T, Pilatz A
Front Endocrinol (Lausanne) 2024;15:1327800. Epub 2024 Apr 9 doi: 10.3389/fendo.2024.1327800. PMID: 38654926Free PMC Article
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
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
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
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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