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Hum. Reprod. Advance Access published online on September 30, 2004
Human Reproduction, doi:10.1093/humrep/deh496
© 2004 by European Society of Human Reproduction and Embryology
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Received May 4, 2004
Accepted August 2, 2004

Article

A novel 30 bp deletion in the FOXL2 gene in a phenotypically normal woman with primary amenorrhoea: Case report

Ksenija Gersak 1*, Sarah E. Harris 2, Wendy J. Smale 3, and Andrew N. Shelling 3

1 Division of Medical Genetics, Department of Obstetrics and Gynaecology, University Medical Centre Ljubljana, Ljubljana, Slovenia
2 Department of Psychology, University of Edinburgh, 7 George Square, Edinburgh EH8 9JZ, UK
3 Department of Obstetrics and Gynaecology, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand

* To whom correspondence should be addressed. E-mail: ksenija.gersak{at}mf.uni-lj.si.


  Abstract

In a Slovene patient with primary amenorrhoea without an association with blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), a novel 30 bp deletion was identified in the FOXL2 gene. We report the clinical features of this woman who has spontaneously conceived and delivered two live healthy babies. The novel deletion was predicted to remove 10 out of 14 alanines (A221_A230del), from the polyalanine tract downstream of the winged helix/forkhead domain of the FOXL2 protein. The patient's parents and sister were shown not to carry this deletion. Despite seeing an anovulatory secretory pattern of FSH, follicles developed spontaneously. Persistent and consistent monitoring have practical implications for genetic and fertility counselling in the era when women with premature ovarian failure usually seek ovum donation. The role of FOXL2 in the development of infertility is still unclear, but several lines of evidence suggest that it plays a central role in follicle development.

Keywords: fluctuating FSH; FOXL2; primary amenorrhoea.
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