Maturitas
Volume 57, Issue 4 , Pages 399-404 , 20 August 2007

Gene analysis in patients with premature ovarian failure or gonadal dysgenesis: A preliminary study

  • Ana Maria Massad-Costa

      Affiliations

    • Department of Gynecology, Federal University of São Paulo, Escola Paulista de Medicina, Brazil
  • ,
  • Ismael Dale Cotrim Guerreiro da Silva

      Affiliations

    • Department of Gynecology, Federal University of São Paulo, Escola Paulista de Medicina, Brazil
  • ,
  • Regina Affonso

      Affiliations

    • Department of Gynecology, Federal University of São Paulo, Escola Paulista de Medicina, Brazil
  • ,
  • José Maria Soares Jr.

      Affiliations

    • Department of Gynecology, Federal University of São Paulo, Escola Paulista de Medicina, Brazil
    • Corresponding Author InformationCorresponding author at: Rua Sena Madureira 1245 apt 11, 040210-051 São Paulo, SP, Brazil. Tel.: +55 11 50853681; fax: +55 11 50853681.
  • ,
  • Márcia Gaspar Nunes

      Affiliations

    • Department of Gynecology, Federal University of São Paulo, Escola Paulista de Medicina, Brazil
  • ,
  • Geraldo Rodrigues de Lima

      Affiliations

    • Department of Gynecology, Federal University of São Paulo, Escola Paulista de Medicina, Brazil
  • ,
  • Edmund C. Baracat

      Affiliations

    • Department of Gynecology, Federal University of São Paulo, Escola Paulista de Medicina, Brazil
    • Department of Gynecology and Obstetrics, University of São Paulo, Brazil

Received 12 November 2006 ,Revised 18 March 2007 ,Accepted 22 April 2007.

References 

  1. Luborsky JL, Meyer P, Sowers MF, Gold EB, Santoro N. Premature menopause in a multi-ethnic population study of the menopause transition. Hum Reprod. 2003;18:199–206
  2. Haidar MA, Baracat EC, Simoes MJ, Focchi GR, Evencio Neto J, de Lima GR. Premature ovarian failure: morphological and ultrastructural aspects. Sao Paulo Med J. 1994;112:534–538
  3. Santoro N. Mechanisms of premature ovarian failure. Ann Endocrinol (Paris). 2003;64:87–92
  4. Simpson JL, Rajkovic A. Ovarian differentiation and gonadal failure. Am J Med Genet. 1999;89:186–200
  5. Zinn AR, Ross JL. Turner syndrome and haploinsufficiency. Curr Opin Genet Dev. 1998;8:322–327
  6. Vegetti W, Marozzi A, Manfredini E, et al. Premature ovarian failure. Mol Cell Endocrinol. 2000;161:53–57
  7. Murray A, Ennis S, MacSwiney F, Webb J, Morton NE. Reproductive and menstrual history of females with fragile X expansions. Eur J Hum Genet. 2000;8:247–252
  8. Baron J, Warenik-Szymankiewicz A, Miedzianowski J, Baron JJ. New aspects of diagnosing and treating pure gonadal dysgenesis 46XY and 46XX. Endokrynol Pol. 1993;44:483–496
  9. Simpson JL. Genetics of sexual differentiation. In:  Rock JA,  Carpenter SE editor. Pediatric and adolescent gynecology. New York: Raven Press; 1992;p. 1–37
  10. Sarto GE, Therman E, Patau K. X inactivation in man: a woman with t(Xq−;12q+). Am J Hum Genet. 1973;25:262–270
  11. Wyss D, DeLozier CD, Daniell J, Engel E. Structural anomalies of the X chromosome: personal observation and review of non-mosaic cases. Clin Genet. 1982;21:145–159
  12. Goldman B, Polani PE, Daker MG, Angell RR. Clinical and cytogenetic aspects of X-chromosome deletions. Clin Genet. 1982;21:36–52
  13. Powell CM, Taggart RT, Drumheller TC, et al. Molecular and cytogenetic studies of an X autosome translocation in a patient with premature ovarian failure and review of the literature. Am J Med Genet. 1994;52:19–26
  14. Van Esch H. The fragile X premutation: new insights and clinical consequences. Eur J Med Genet. 2006;49(1):1–8
  15. Dowdy SF, Lai KM, Weissman BE, Matsui Y, Hogan BL, Stanbridge EJ. The isolation and characterization of a novel cDNA demonstrating an altered mRNA level in nontumorigenic Wilms’ microcell hybrid cells. Nucleic Acids Res. 1991;19:5763–5769
  16. Inada H, Mukai J, Matsushima S, Tanaka T. QM is a novel zinc-binding transcription regulatory protein: its binding to c-Jun is regulated by zinc ions and phosphorylation by protein kinase C. Biochem Biophys Res Commun. 1997;230:331–334
  17. Kaneko K, Nippon Rinsho. Molecular genetics of adrenoleukodystrophy. 1993;51(9):2359–2363
  18. Conway GS, Payne NN, Webb J, Murray A, Jacobs PA, Fragile . X premutation screening in women with premature ovarian failure. Hum Reprod. 1998;13:1184–1187
  19. Murray A, Webb J, Grimley S, Conway G, Jacobs P. Studies of FRAXA and FRAXE in women with premature ovarian failure. J Med Genet. 1998;35:637–640
  20. Gersak K, Meden-Vrtovec H, Peterlin B. Fragile X premutation in women with sporadic premature ovarian failure in Slovenia. Hum Reprod. 2003;18:1637–1640
  21. Bussani C, Papi L, Sestini R, et al. Premature ovarian failure and fragile X premutation: a study on 45 women. Eur J Obstet Gynecol Reprod Biol. 2004;112:189–191
  22. Goswamy D, Conway GS. Premature ovarian failure. Hum Reprod Update. 2005;11:391–410
  23. Marozzi A, Porta C, Vegetti W, et al. Mutation analysis of the inhibin α gene in a cohort of Italian women affected by ovarian failure. Hum Reprod. 2002;17:1741–1745

PII: S0378-5122(07)00164-8

doi: 10.1016/j.maturitas.2007.04.005

Maturitas
Volume 57, Issue 4 , Pages 399-404 , 20 August 2007