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Hum Reprod. 2004 Dec;19(12):2767-70. Epub 2004 Sep 30.

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

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Division of Medical Genetics, Department of Obstetrics and Gynaecology, University Medical Centre Ljubljana, Ljubljana, Slovenia.


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.

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