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  1. Home page
  2. Contents
  3. Genital functions
Medical and paramedical

ENDOCRINE MANIFESTATIONS

Genital functions

Genital function in patients with trisomy 21 is characterized by primary hypogonadism, cryptorchidism, micropenis, a 3-4 times higher risk of testicular germ cell tumors in men, and early menopause in women. Apart from an earlier and smaller growth peak, puberty is not very different from in the general population. Lastly, the fertility of patients with trisomy 21 is a very topical ethical issue that merits our full attention.

 

In this video and accompanying technical sheet, Dr. Hervé Walti, a pediatrician at the Jérôme Lejeune Institute, tells you more about all these matters.

See below for the presentation accompanying this video on “genital function”.

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  • Grinspon RP, Bedecarrás P, Ballerini MG, Iñiguez G, Rocha A, Mantovani Rodrigues Resende EA, Brito VN, Milani C, Figueroa Gacitúa V, Chiesa A, Keselman A, Gottlieb S, Borges MF, Ropelato MG, Picard JY, Codner E, Rey RA; LAREP Group. Early onset of primary hypogonadism revealed by serum anti-Müllerian hormone determination during infancy and childhood in trisomy 21. Int J Androl. 2011 Oct;34(5 Pt 2):e487-98. doi: 10.1111/j.1365-2605.2011.01210.x. Epub 2011 Aug 10. PMID: 21831236.
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  • Parizot E, Dard R, Janel N, Vialard F. Down syndrome and infertility: what support should we provide? J Assist Reprod Genet. 2019 Jun;36(6):1063-1067. doi: 10.1007/s10815-019-01457-2. Epub 2019 May 9. PMID: 31073724; PMCID: PMC6603116.
  • Radmayr C, Dogan HS, Hoebeke P, Kocvara R, Nijman R, Silay S, Stein R, Undre S, Tekgul S. Management of undescended testes: European Association of Urology/European Society for Paediatric Urology Guidelines. J Pediatr Urol. 2016 Dec;12(6):335-343. doi: 10.1016/j.jpurol.2016.07.014. Epub 2016 Sep 15. Erratum in: J Pediatr Urol. 2017 Apr;13(2):239. PMID: 27687532.
  • Rodprasert W, Virtanen HE, Mäkelä JA, Toppari J. Hypogonadism and Cryptorchidism. Front Endocrinol (Lausanne). 2020 Jan 15;10:906. doi: 10.3389/fendo.2019.00906. PMID: 32010061; PMCID: PMC6974459.
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  • Seltzer GB, Schupf N, Wu H-S. A prospective study of menopause in women with Down’s syndrome. Journal of Intellectual Disability Research 2001;45:1–7. [PubMed: 11168771]
  • Schupf N, Lee JH, Pang D, Zigman WB, Tycko B, Krinsky-McHale S, Silverman W. Epidemiology of estrogen and dementia in women with Down syndrome. Free Radic Biol Med. 2018 Jan;114:62-68. doi: 10.1016/j.freeradbiomed.2017.08.019. Epub 2017 Aug 31. PMID: 28843780; PMCID: PMC5748249.
  • Wiygul J, Palmer LS. Micropenis. ScientificWorldJournal. 2011 Jul 28;11:1462-9. doi: 10.1100/tsw.2011.135. PMID: 21805015; PMCID: PMC5720072.
  • Wohlfahrt-Veje C, Boisen KA, Boas M, Damgaard IN, Kai CM, Schmidt IM, Chellakooty M, Suomi AM, Toppari J, Skakkebaek NE, Main KM. Acquired cryptorchidism is frequent in infancy and childhood. Int J Androl. 2009 Aug;32(4):423-8. doi: 10.1111/j.1365-2605.2008.00946.x. PMID: 19515170.
  • Xing JS, Bai ZM. Is testicular dysgenesis syndrome a genetic, endocrine, or environmental disease, or an unexplained reproductive disorder? Life Sci. 2018 Feb 1;194:120-129. doi: 10.1016/j.lfs.2017.11.039. Epub 2017 Nov 26. PMID: 29183799.
  • Zhu JL, Obel C, Hasle H, Rasmussen SA, Li J, Olsen J. Social conditions for people with Down syndrome: a register-based cohort study in Denmark. Am J Med Genet A. 2014 Jan;164A(1):36-41. doi: 10.1002/ajmg.a.36272. Epub 2013 Nov 22. PMID: 24273114; PMCID: PMC4490827.

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