Fertility and Sterility
Volume 94, Issue 1 , Pages 120-125 , June 2010

Does the Y chromosome have a role in Müllerian aplasia?

  • Maria Sandbacka, M.Sc.

      Affiliations

    • Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland
    • Corresponding Author InformationReprint requests: Maria Sandbacka, M.Sc., Folkhälsan Institute of Genetics, Biomedicum Helsinki, P.O. Box 63, FIN-00014 University of Helsinki, Helsinki, Finland (FAX: 358-919125073).
    • ,
  • Jodie Painter, Ph.D.

      Affiliations

    • Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland
    • Genetic Epidemiology, Queensland Institute of Medical Research, Brisbane, Australia
    • ,
  • Minna Puhakka, M.D.

      Affiliations

    • Department of Clinical Genetics, Helsinki University Central Hospital, Helsinki, Finland
    • ,
  • Mervi Halttunen, M.D.

      Affiliations

    • Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Helsinki, Finland
    • ,
  • Hannele Laivuori, M.D.

      Affiliations

    • Department of Clinical Genetics, Helsinki University Central Hospital, Helsinki, Finland
    • Department of Medical Genetics, University of Helsinki, Finland
    • ,
  • Kristiina Aittomäki, M.D.

      Affiliations

    • Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland
    • Department of Clinical Genetics, Helsinki University Central Hospital, Helsinki, Finland

Received 17 November 2008 ,Revised 2 February 2009 ,Accepted 3 February 2009.

References 

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  2. Oppelt P, Renner SP, Kellermann A, Brucker S, Hauser GA, Ludwig KS, et al. Clinical aspects of Mayer-Rokitansky-Kuester-Hauser syndrome: recommendations for clinical diagnosis and staging. Hum Reprod. 2006;21:792–797
  3. Griffin JE, Edwards C, Madden JD, Harrod MJ, Wilson JD. Congenital absence of the vagina. The Mayer-Rokitansky-Küster-Hauser syndrome. Ann Intern Med. 1976;85:224–236
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  5. Petrozza JC, Gray MR, Davis AJ, Reindollar RH. Congenital absence of the uterus and vagina is not commonly transmitted as a dominant genetic trait: outcomes of surrogate pregnancies. Fertil Steril. 1997;67:387–389
  6. Resendes BL, Sohn SH, Stelling JR, Tineo R, Davis AJ, Gray MR, et al. Role for anti-Müllerian hormone in congenital absence of the uterus and vagina. Am J Med Genet. 2001;98:129–136
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  8. Oppelt P, Strissel PL, Kellermann A, Seeber S, Humeny A, Beckmann MW, et al. DNA sequence variations of the entire anti-Müllerian hormone (AMH) gene promoter and AMH protein expression in patients with the Mayer-Rokitanski-Küster-Hauser syndrome. Hum Reprod. 2005;20:149–157
  9. Timmreck LS, Pan HA, Reindollar RH, Gray MR. WNT7A mutations in patients with Müllerian duct abnormalities. J Pediatr Adolesc Gynecol. 2003;16:217–221
  10. Lalwani SI, Wu H, Reindollar RH, Gray MR. HOXA10 mutations in congenital absence of uterus and vagina. Fertil Steril. 2008;89:325–330
  11. Karnis MF, Stelling JR, Lalwani SI, Bhagavath B, Pan HA, Davis AJ, et al. Mutation analysis of the HOXA13 gene in patients with congenital absence of the uterus and vagina. J Soc Gynecol Invest. 2000;7:172A
  12. Plevraki E, Kita M, Goulis DG, Hatzisevastou-Loukidou H, Lambropoulos AF, Avramides A. Bilateral ovarian agenesis and the presence of the testis-specific protein 1-Y-linked gene: two new features of Mayer-Rokitansky-Küster-Hauser syndrome. Fertil Steril. 2004;81:689–692
  13. Lau Y, Chou P, Iezzoni J, Alonzo J, Komuves L. Expression of a candidate gene for the gonadoblastoma locus in gonadoblastoma and testicular seminoma. Cytogenet Cell Genet. 2000;91:160–164
  14. Àlvarez-Nava F, Soto M, Fernández E, Zenteno JC. Nested polymerase chain reaction—not ready for gold standard status yet!. [letter] Fertil Steril. 2004;82:1471
  15. Cederroth CR, Pitetti JL, Papaioannou MD, Nef S. Genetic programs that regulate testicular and ovarian development. Mol Cell Endocrinol. 2007;265–266:3–9
  16. Hong X, Luense LJ, McGinnis LK, Nothnick WB, Christenson LK. Dicer1 is essential for female fertility and normal development of the female reproductive system. Endocrinology. 2008;149:6207–6212
  17. Klattig J, Englert C. The Müllerian duct: recent insights into its development and regression. Sex Dev. 2007;1:271–278
  18. Biason-Lauber A, Konrad D, Navratil F, Schoenle EJ. Brief report: a WNT4 mutation associated with mullerian-duct regression and virilization in a 46,XX woman. N Engl J Med. 2004;351:792–798
  19. Biason-Lauber A, De Filippo G, Konrad D, Scarano G, Nazzaro A, Schoenle EJ. WNT4 deficiency—a clinical phenotype distinct from the classic Mayer–Rokitansky–Kuster–Hauser syndrome: a case report. Hum Reprod. 2007;22:224–229
  20. Philibert P, Biason-Lauber A, Rouzier R, Pienkowski C, Paris F, Konrad D, et al. Identification and functional analysis of a new WNT4 gene mutation among 28 adolescent girls with primary amenorrhea and Mullerian duct abnormalities: a French collaborative study. J Clin Endocrinol Metab. 2008;93:895–900
  21. Clément-Ziza M, Khen N, Gonzales J, Crétolle-Vastel C, Picard J-Y, Tullio-Pelet A, et al. Exclusion of WNT4 as a major gene in Rokitansky-Küster-Hauser anomaly. Am J Med Genet. 2005;137A:98–99
  22. Cheroki C, Krepischi-Santos AC, Rosenberg C, Jehee FS, Mingroni-Netto RC, Filho IP, et al. Report of a del22q11 in a patient with Mayer-Rokitansky-Küster-Hauser (MRKH) anomaly and exclusion of WNT-4, RAR-gamma, and RXR-alpha as major genes determining MRKH anomaly in a study of 25 affected women. Am J Med Genet. 2006;140A:1339–1342
  23. Jamin SP, Arango NA, Mishina Y, Hanks MC, Behringer RR. Genetic studies of the AMH/MIS signalling pathway for Müllerian duct regression. Mol Cell Endocrinol. 2003;211:15–19

 M.S. has nothing to disclose. J.P. has nothing to disclose. M.P. has nothing to disclose. M.H. has nothing to disclose. H.L. has nothing to disclose. K.A. has nothing to disclose.

 Supported by Victoria Foundation, Medicinska Understödsföreningen Liv och Hälsa Foundation, Päivikki and Sakari Sohlberg Foundation in Finland.

PII: S0015-0282(09)00303-3

doi: 10.1016/j.fertnstert.2009.02.004

Fertility and Sterility
Volume 94, Issue 1 , Pages 120-125 , June 2010

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