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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

Krausz C, Navarro-Costa P, Wilke M, Tüttelmann F
Andrology 2024 Mar;12(3):487-504. Epub 2023 Sep 6 doi: 10.1111/andr.13514. PMID: 37674303
Croghan SM, Malak JW, Rohan P, Byrne C, McGrath A, Cullen IM, Davis NF
Nat Rev Urol 2024 Jan;21(1):7-21. Epub 2023 Jul 6 doi: 10.1038/s41585-023-00786-3. PMID: 37414958
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

Recent clinical studies

Etiology

Rodprasert W, Virtanen HE, Toppari J
Front Endocrinol (Lausanne) 2024;15:1347435. Epub 2024 Mar 12 doi: 10.3389/fendo.2024.1347435. PMID: 38532895Free PMC Article
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
Agoulnik AI, Huang Z, Ferguson L
Methods Mol Biol 2012;825:127-47. doi: 10.1007/978-1-61779-436-0_11. PMID: 22144242
Toppari J, Kaleva M
Horm Res 1999 Dec;51(6):261-9. doi: 10.1159/000023412. PMID: 10640886

Diagnosis

Chen Y, Liu X, Zhang L, Zhu F, Yan L, Tang W, Zhang Z, Liu Q, Jiang H, Qiao J
Adv Sci (Weinh) 2023 Jun;10(17):e2206852. Epub 2023 Apr 21 doi: 10.1002/advs.202206852. PMID: 37083227Free PMC Article
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
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

Dicke AK, Albrethsen J, Hoare BL, Wyrwoll MJ, Busch AS, Fietz D, Pilatz A, Bühlmann C, Juul A, Kliesch S, Gromoll J, Bathgate RAD, Tüttelmann F, Stallmeyer B
Hum Reprod 2023 Jul 5;38(7):1412-1423. doi: 10.1093/humrep/dead105. PMID: 37208861
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
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

Chen Y, Liu X, Zhang L, Zhu F, Yan L, Tang W, Zhang Z, Liu Q, Jiang H, Qiao J
Adv Sci (Weinh) 2023 Jun;10(17):e2206852. Epub 2023 Apr 21 doi: 10.1002/advs.202206852. PMID: 37083227Free PMC Article
Sá R, Ferraz L, Barros A, Sousa M
Genes (Basel) 2023 Mar 4;14(3) doi: 10.3390/genes14030647. PMID: 36980920Free PMC Article
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
Tadokoro-Cuccaro R, Hughes IA
Curr Opin Endocrinol Diabetes Obes 2014 Dec;21(6):499-503. doi: 10.1097/MED.0000000000000107. PMID: 25354046

Clinical prediction guides

Chen Y, Liu X, Zhang L, Zhu F, Yan L, Tang W, Zhang Z, Liu Q, Jiang H, Qiao J
Adv Sci (Weinh) 2023 Jun;10(17):e2206852. Epub 2023 Apr 21 doi: 10.1002/advs.202206852. PMID: 37083227Free PMC Article
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

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
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
Chatziparasidou A, Christoforidis N, Samolada G, Nijs M
Andrologia 2015 Oct;47(8):847-60. Epub 2014 Oct 28 doi: 10.1111/and.12362. PMID: 25352353

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