Fertility and Sterility
Volume 90, Issue 5 , Pages 2016.e11-2016.e12 , November 2008

Blepharophimosis-ptosis-epicanthus inversus syndrome and hypergonadotropic hypogonadism

  • Annette L. Siewert, B.S.
    • ,
  • Quinn Stein, M.S.
    • ,
  • Jason Flanagan, M.S.
    • ,
  • Keith A. Hansen, M.D.

      Affiliations

    • Corresponding Author InformationReprint requests: Keith A. Hansen, M.D., Professor and Chairman, Department of Obstetrics and Gynecology, Sanford School of Medicine of the University of South Dakota, 1400 West 22nd Street, Sioux Falls, SD 57105 (FAX: 605.357-1528).

Received 14 May 2008 ,Revised 11 June 2008 ,Accepted 10 July 2008.

References 

  1. Sherman SL. Premature ovarian failure in the fragile X syndrome. Am J Med Genet. 2000;97:189–194
  2. Conway GS, Kaltas G, Patel A, Davies MC, Jacobs HS. Characterization of idiopathic premature ovarian failure. Fertil Steril. 1996;65:337–341
  3. Goswami D, Conway GS. Premature ovarian failure. Hormone Res. 2007;68:196–202
  4. Goswami D, Conway GS. Premature ovarian failure. Hum Reprod Update. 2005;11:391–410
  5. Zoltagora J, Sagi M, Cohen T. The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types. Am J Hum Gen. 1983;36:1020–1027
  6. Uhlenhaut NH, Treier M. Foxl2 function and ovarian development. Mol Genet Metab. 2006;88:225–234
  7. Amati P. A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23. Hum Genet. 1995;96:213–215
  8. Cocquet J, Pailhoux E, Jaubert F, Servel N, Xia X, Pannetier M, et al. Evolution and expression of FOXL2. J Med Genet. 2002;39:916–922
  9. Crisponi L, Deiana M, Loi A, Chiappe F, Uda M, Anati P, et al. The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nat Genet. 2001;27:159–166
  10. Gersank K, Harris SE, Smale WJ, Shelling AN. A novel 30 bp deletion in the FOXL2 gene in a phenotypically normal woman with primary amenorrhea: case report. Hum Reprod. 2004;19:2767–2770
  11. De Baere E, Lemercier B, Christin-Maitre S, Durval D, Messiaen L, Fellous M, et al. FOXL2 mutation screening in a large panel of POF patients and XX males. J Med Genet. 2002;39:e43
  12. Bodega B, Porta C, Crosignani PG, Ginelli A, Marozzi A. Mutations in the coding region of the FOXL2 gene are not a major cause of premature ovarian failure. Mol Hum Reprod. 2004;10:555–557

 A.L.S. has nothing to disclose. Q.S. has nothing to disclose. J.F. has nothing to disclose. K.A.H. has nothing to disclose.

PII: S0015-0282(08)03286-X

doi: 10.1016/j.fertnstert.2008.07.1763

Fertility and Sterility
Volume 90, Issue 5 , Pages 2016.e11-2016.e12 , November 2008

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