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Abnormal male germ cell morphology

MedGen UID:
868309
Concept ID:
C4022703
Anatomical Abnormality
HPO: HP:0012863

Definition

A structural anomaly of a male reproductive cell. [from HPO]

Conditions with this feature

Spermatogenic failure 12
MedGen UID:
815757
Concept ID:
C3809427
Disease or Syndrome
Any azoospermia in which the cause of the disease is a mutation in the NANOS1 gene.

Professional guidelines

PubMed

Simpson JL, Rechitsky S
J Steroid Biochem Mol Biol 2017 Jan;165(Pt A):124-130. Epub 2016 Apr 21 doi: 10.1016/j.jsbmb.2016.03.022. PMID: 27108943
Hadziselimovic F
Urol Int 2016;96(3):249-54. Epub 2016 Jan 30 doi: 10.1159/000443741. PMID: 26824668
Hotaling J, Carrell DT
Andrology 2014 May;2(3):339-50. Epub 2014 Apr 7 doi: 10.1111/j.2047-2927.2014.00200.x. PMID: 24711280

Recent clinical studies

Etiology

La Vignera S, Vita R
Int J Immunopathol Pharmacol 2018 Jan-Dec;32:2058738418775241. doi: 10.1177/2058738418775241. PMID: 29737216Free PMC Article
Yatsenko AN, Turek PJ
J Assist Reprod Genet 2018 Jun;35(6):933-941. Epub 2018 Mar 9 doi: 10.1007/s10815-018-1148-y. PMID: 29524155Free PMC Article
Landero-Huerta DA, Vigueras-Villasenor RM, Yokoyama-Rebollar E, Arechaga-Ocampo E, Rojas-Castaneda JC, Jimenez-Trejo F, Chavez-Saldana M
Front Biosci (Landmark Ed) 2017 Mar 1;22(7):1073-1098. doi: 10.2741/4534. PMID: 28199193
Tadokoro-Cuccaro R, Hughes IA
Curr Opin Endocrinol Diabetes Obes 2014 Dec;21(6):499-503. doi: 10.1097/MED.0000000000000107. PMID: 25354046
Rescorla FJ
Semin Pediatr Surg 1997 Feb;6(1):29-37. PMID: 9117272

Diagnosis

Kumar N, Singh AK
Biol Reprod 2021 Mar 11;104(3):508-520. doi: 10.1093/biolre/ioaa213. PMID: 33238303
Zhao L, Yao C, Xing X, Jing T, Li P, Zhu Z, Yang C, Zhai J, Tian R, Chen H, Luo J, Liu N, Deng Z, Lin X, Li N, Fang J, Sun J, Wang C, Zhou Z, Li Z
Nat Commun 2020 Nov 10;11(1):5683. doi: 10.1038/s41467-020-19414-4. PMID: 33173058Free PMC Article
Softness KA, Trussler JT, Carrasquillo RJ
Curr Opin Urol 2020 May;30(3):290-295. doi: 10.1097/MOU.0000000000000761. PMID: 32235275
La Vignera S, Vita R
Int J Immunopathol Pharmacol 2018 Jan-Dec;32:2058738418775241. doi: 10.1177/2058738418775241. PMID: 29737216Free PMC Article
Gatimel N, Moreau J, Parinaud J, Léandri RD
Andrology 2017 Sep;5(5):845-862. Epub 2017 Jul 10 doi: 10.1111/andr.12389. PMID: 28692759

Therapy

Jannatifar R, Parivar K, Roodbari NH, Nasr-Esfahani MH
Reprod Biol Endocrinol 2019 Feb 16;17(1):24. doi: 10.1186/s12958-019-0468-9. PMID: 30771790Free PMC Article
Drobnis EZ, Nangia AK
Adv Exp Med Biol 2017;1034:39-57. doi: 10.1007/978-3-319-69535-8_6. PMID: 29256126
Rubino P, Viganò P, Luddi A, Piomboni P
Hum Reprod Update 2016 Mar-Apr;22(2):194-227. Epub 2015 Nov 18 doi: 10.1093/humupd/dmv050. PMID: 26586241
Mongan NP, Tadokoro-Cuccaro R, Bunch T, Hughes IA
Best Pract Res Clin Endocrinol Metab 2015 Aug;29(4):569-80. Epub 2015 Apr 26 doi: 10.1016/j.beem.2015.04.005. PMID: 26303084
Toppari J, Rodprasert W, Virtanen HE
Ann Endocrinol (Paris) 2014 May;75(2):72-6. Epub 2014 Apr 29 doi: 10.1016/j.ando.2014.04.010. PMID: 24786701

Prognosis

Dutta S, Sengupta P, Das S, Slama P, Roychoudhury S
Int J Mol Sci 2022 Sep 12;23(18) doi: 10.3390/ijms231810574. PMID: 36142487Free PMC Article
Liu C, Tu C, Wang L, Wu H, Houston BJ, Mastrorosa FK, Zhang W, Shen Y, Wang J, Tian S, Meng L, Cong J, Yang S, Jiang Y, Tang S, Zeng Y, Lv M, Lin G, Li J, Saiyin H, He X, Jin L, Touré A, Ray PF, Veltman JA, Shi Q, O'Bryan MK, Cao Y, Tan YQ, Zhang F
Am J Hum Genet 2021 Feb 4;108(2):309-323. Epub 2021 Jan 19 doi: 10.1016/j.ajhg.2021.01.002. PMID: 33472045Free PMC Article
Magers MJ, Cheng L
Arch Pathol Lab Med 2020 Mar;144(3):277-289. Epub 2019 Aug 2 doi: 10.5858/arpa.2019-0134-RA. PMID: 31373513
Tadokoro-Cuccaro R, Hughes IA
Curr Opin Endocrinol Diabetes Obes 2014 Dec;21(6):499-503. doi: 10.1097/MED.0000000000000107. PMID: 25354046
Toppari J, Kaleva M
Horm Res 1999 Dec;51(6):261-9. doi: 10.1159/000023412. PMID: 10640886

Clinical prediction guides

Dutta S, Sengupta P, Das S, Slama P, Roychoudhury S
Int J Mol Sci 2022 Sep 12;23(18) doi: 10.3390/ijms231810574. PMID: 36142487Free PMC Article
Wistuba J, Beumer C, Brehm R, Gromoll J
Am J Med Genet C Semin Med Genet 2020 Jun;184(2):267-278. Epub 2020 May 20 doi: 10.1002/ajmg.c.31796. PMID: 32432406
Willems M, Gies I, Van Saen D
Am J Med Genet C Semin Med Genet 2020 Jun;184(2):356-370. Epub 2020 May 15 doi: 10.1002/ajmg.c.31787. PMID: 32412180
Tadokoro-Cuccaro R, Hughes IA
Curr Opin Endocrinol Diabetes Obes 2014 Dec;21(6):499-503. doi: 10.1097/MED.0000000000000107. PMID: 25354046
Rescorla FJ
Semin Pediatr Surg 1997 Feb;6(1):29-37. PMID: 9117272

Recent systematic reviews

Simon L, Emery B, Carrell DT
Adv Exp Med Biol 2019;1166:87-105. doi: 10.1007/978-3-030-21664-1_6. PMID: 31301048
Simon L, Emery BR, Carrell DT
Best Pract Res Clin Obstet Gynaecol 2017 Oct;44:38-56. Epub 2017 Aug 2 doi: 10.1016/j.bpobgyn.2017.07.003. PMID: 28935366
Gunes S, Hekim GN, Arslan MA, Asci R
J Assist Reprod Genet 2016 Apr;33(4):441-54. Epub 2016 Feb 11 doi: 10.1007/s10815-016-0663-y. PMID: 26867640Free PMC Article
Rubino P, Viganò P, Luddi A, Piomboni P
Hum Reprod Update 2016 Mar-Apr;22(2):194-227. Epub 2015 Nov 18 doi: 10.1093/humupd/dmv050. PMID: 26586241
Campbell JM, Lane M, Owens JA, Bakos HW
Reprod Biomed Online 2015 Nov;31(5):593-604. Epub 2015 Aug 10 doi: 10.1016/j.rbmo.2015.07.012. PMID: 26380863

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