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Hum. Reprod. Advance Access published online on October 9, 2009
Human Reproduction, doi:10.1093/humrep/dep355
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© The Author 2009. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

FOXL2 mutations lead to different ovarian phenotypes in BPES patients: Case Report

Géri Méduri1,2, Anne Bachelot3,4, Catherine Duflos3,5, Bettina Bständig6, Catherine Poirot7, Catherine Genestie8, Reiner Veitia9, Elfride De Baere10 and Philippe Touraine3,4,11

1 Unité de Recherche, INSERM, U-693, Hôpital Bicêtre, 94275 Le Kremlin Bicêtre, France 2 AP-HP Laboratoire de Génétique Moleculaire, Pharmacogénétique, Hormonologie, Hôpital Bicêtre, 94275 Le Kremlin Bicêtre, France 3 Department of Endocrinology and Reproductive Medicine, Centre de référence des Maladies Endocriniennes rares de la croissance, University Pierre et Marie Curie, Paris VI, AP-HP, Groupe Hospitalier Pitié-Salpétrière, 75013 Paris, France 4 Inserm U845, Faculty of Medicine René Descartes, 75015 Paris, France 5 APHP Department of Pediatric Endocrinology and Centre de Référence des pathologies gynécologiques rares, Hôpital Necker-Enfants Malades, 75015 Paris, France 6 Endocrinology, CHU de Nice, 06100 Nice, France 7 APHP unit of Biology of Reproduction, Hôpital Pitié-Salpétrière, 75013 Paris, France 8 APHP Department of Pathology, Hôpital Pitié-Salpétrière, 75013 Paris, France 9 Université Denis Diderot/Paris VII, Equipe 21, Institut Cochin, 75014 Paris, France 10 Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium

11 Correspondence address. Tel: +33-1-42-16-02-54; Fax: +33-1-42-16-02-55; E-mail: philippe.touraine{at}psl.aphp.fr

FOXL2 mutations cause the autosomal dominant Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) that may be associated with premature ovarian failure (POF). However, little is known about the molecular mechanisms of FOXL2 actions in the human ovary. We conducted an extensive clinical, hormonal and ovarian histological study in two patients carrying a FOXL2 mutation associated with the typical eyelid malformations and infertility. This observational study was conducted at referral centres for POF. Histological and immunohistological studies were conducted on ovarian biopsies from two women with POF carrying a FOXL2 mutation resulting in putative polyalanine expansions of the protein. Abnormalities similar to those observed in mice with FOXL2 gene inactivation were present in the first patient's ovary, although the ovarian histology of the second patient was apparently normal. Different ovarian phenotypes, follicular defects and distribution of FOXL2 protein were observed in two patients carrying a FOXL2 mutation.

Key words: FOXL2/hyperandrogenism/ovary/premature ovarian failure

Submitted on November 14, 2008; resubmitted on September 1, 2009; accepted on September 10, 2009.


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