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Male infertility due to gonadal dysgenesis or sperm disorder

MedGen UID:
1842426
Concept ID:
C5680033
Disease or Syndrome
Synonym: Male infertility due to testicular dysgenesis or sperm disorder
 
Orphanet: ORPHA399764

Professional guidelines

PubMed

Phillips K, Olanrewaju RA, Omole F
Am Fam Physician 2023 Jun;107(6):623-630. PMID: 37327165
Practice Committee of the American Society for Reproductive Medicine and the Practice Committee for the Society for Assisted Reproductive Technology. Electronic address: ASRM@asrm.org
Fertil Steril 2021 Jun;115(6):1395-1410. Epub 2021 Apr 8 doi: 10.1016/j.fertnstert.2021.01.045. PMID: 33838871
Garvey WT, Mechanick JI, Brett EM, Garber AJ, Hurley DL, Jastreboff AM, Nadolsky K, Pessah-Pollack R, Plodkowski R; Reviewers of the AACE/ACE Obesity Clinical Practice Guidelines
Endocr Pract 2016 Jul;22 Suppl 3:1-203. Epub 2016 May 24 doi: 10.4158/EP161365.GL. PMID: 27219496

Recent clinical studies

Etiology

Ashapkin V, Suvorov A, Pilsner JR, Krawetz SA, Sergeyev O
Hum Reprod Update 2023 Jan 5;29(1):24-44. doi: 10.1093/humupd/dmac033. PMID: 36066418Free 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
Pereira AFJR, Coelho TOA
An Bras Dermatol 2020 May-Jun;95(3):271-277. Epub 2020 Mar 25 doi: 10.1016/j.abd.2020.02.001. PMID: 32317131Free PMC Article
Semet M, Paci M, Saïas-Magnan J, Metzler-Guillemain C, Boissier R, Lejeune H, Perrin J
Andrology 2017 Jul;5(4):640-663. Epub 2017 Jun 16 doi: 10.1111/andr.12366. PMID: 28622464
Bisht S, Faiq M, Tolahunase M, Dada R
Nat Rev Urol 2017 Aug;14(8):470-485. Epub 2017 May 16 doi: 10.1038/nrurol.2017.69. PMID: 28508879

Diagnosis

Cannarella R, Crafa A, Curto R, Condorelli RA, La Vignera S, Calogero AE
Mol Aspects Med 2024 Jun;97:101273. Epub 2024 Apr 8 doi: 10.1016/j.mam.2024.101273. PMID: 38593513
Sá R, Ferraz L, Barros A, Sousa M
Genes (Basel) 2023 Mar 4;14(3) doi: 10.3390/genes14030647. PMID: 36980920Free PMC Article
Jiao SY, Yang YH, Chen SR
Hum Reprod Update 2021 Jan 4;27(1):154-189. doi: 10.1093/humupd/dmaa034. PMID: 33118031
Bisht S, Faiq M, Tolahunase M, Dada R
Nat Rev Urol 2017 Aug;14(8):470-485. Epub 2017 May 16 doi: 10.1038/nrurol.2017.69. PMID: 28508879
Coughlan C, Ledger W, Wang Q, Liu F, Demirol A, Gurgan T, Cutting R, Ong K, Sallam H, Li TC
Reprod Biomed Online 2014 Jan;28(1):14-38. Epub 2013 Sep 14 doi: 10.1016/j.rbmo.2013.08.011. PMID: 24269084

Therapy

Garolla A, Graziani A, Grande G, Ortolani C, Ferlin A
J Endocrinol Invest 2024 Feb;47(2):261-274. Epub 2023 Sep 28 doi: 10.1007/s40618-023-02192-3. PMID: 37770654Free PMC Article
Mann U, Shiff B, Patel P
Curr Opin Urol 2020 May;30(3):296-301. doi: 10.1097/MOU.0000000000000745. PMID: 32168194
Bisht S, Faiq M, Tolahunase M, Dada R
Nat Rev Urol 2017 Aug;14(8):470-485. Epub 2017 May 16 doi: 10.1038/nrurol.2017.69. PMID: 28508879
Garvey WT, Mechanick JI, Brett EM, Garber AJ, Hurley DL, Jastreboff AM, Nadolsky K, Pessah-Pollack R, Plodkowski R; Reviewers of the AACE/ACE Obesity Clinical Practice Guidelines
Endocr Pract 2016 Jul;22 Suppl 3:1-203. Epub 2016 May 24 doi: 10.4158/EP161365.GL. PMID: 27219496
Hendry WF
Practitioner 1975 Jan;214(1279):60-9. PMID: 1096113

Prognosis

Walton T, Gui M, Velkova S, Fassad MR, Hirst RA, Haarman E, O'Callaghan C, Bottier M, Burgoyne T, Mitchison HM, Brown A
Nature 2023 Jun;618(7965):625-633. Epub 2023 May 31 doi: 10.1038/s41586-023-06140-2. PMID: 37258679Free 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
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
Jiao SY, Yang YH, Chen SR
Hum Reprod Update 2021 Jan 4;27(1):154-189. doi: 10.1093/humupd/dmaa034. PMID: 33118031
Hutcheon JA, Lisonkova S, Joseph KS
Best Pract Res Clin Obstet Gynaecol 2011 Aug;25(4):391-403. Epub 2011 Feb 18 doi: 10.1016/j.bpobgyn.2011.01.006. PMID: 21333604

Clinical prediction guides

Alkhunaizi E, Albrecht JP, Aarabi M, Witchel SF, Wherrett D, Babul-Hirji R, Dupuis A, Chiniara L, Chater-Diehl E, Shago M, Shuman C, Rajkovic A, Yatsenko SA, Chitayat D
Am J Med Genet A 2024 Mar;194(3):e63451. Epub 2023 Oct 26 doi: 10.1002/ajmg.a.63451. PMID: 37882230
Sá R, Ferraz L, Barros A, Sousa M
Genes (Basel) 2023 Mar 4;14(3) doi: 10.3390/genes14030647. PMID: 36980920Free PMC Article
Tan C, Meng L, Lv M, He X, Sha Y, Tang D, Tan Y, Hu T, He W, Tu C, Nie H, Zhang H, Du J, Lu G, Fan LQ, Cao Y, Lin G, Tan YQ
Am J Hum Genet 2022 Jan 6;109(1):157-171. Epub 2021 Dec 20 doi: 10.1016/j.ajhg.2021.11.022. PMID: 34932939Free 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
Jiao SY, Yang YH, Chen SR
Hum Reprod Update 2021 Jan 4;27(1):154-189. doi: 10.1093/humupd/dmaa034. PMID: 33118031

Recent systematic reviews

Service CA, Puri D, Al Azzawi S, Hsieh TC, Patel DP
Fertil Steril 2023 Dec;120(6):1098-1111. Epub 2023 Oct 14 doi: 10.1016/j.fertnstert.2023.10.017. PMID: 37839720
Esposito M, Salerno M, Calvano G, Agliozzo R, Ficarra V, Sessa F, Favilla V, Cimino S, Pomara C
Panminerva Med 2023 Mar;65(1):43-50. Epub 2022 Feb 11 doi: 10.23736/S0031-0808.22.04677-8. PMID: 35146992
Boroujeni SN, Malamiri FA, Bossaghzadeh F, Esmaeili A, Moudi E
JBRA Assist Reprod 2022 Aug 4;26(3):522-530. doi: 10.5935/1518-0557.20210108. PMID: 35234023Free PMC Article
Payne KS, Mazur DJ, Hotaling JM, Pastuszak AW
J Urol 2019 Oct;202(4):674-681. Epub 2019 Sep 6 doi: 10.1097/JU.0000000000000248. PMID: 30916627Free PMC Article
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

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