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Phenotyping and genetic studies of 357 consecutive patients presenting with premature ovarian failure

¹ AP-HP, Department of Endocrinology and Reproductive Medicine, Centre de référence des Maladies Endocriniennes rares de la croissance, Groupe Hospitalier Pitié-Salpétrière, University Pierre et Marie Curie, Paris VI, 75013 Paris, France² INSERM U845, 75015 Paris, France³ AP-HP, Department of Radiology, Groupe Hospitalier Necker-Enfants Malades, 75015 Paris, France, AP-HP, Departments of⁴ , Radiology⁵ Obstetrics and Gynecology, Groupe Hospitalier Pitié-Salpétrière, 75013 Paris, France⁶ AP-HP, Department of Gynecological Surgery, Centre Hospitalier Intercommunal de Créteil, 94010 Créteil, France, AP-HP, Departments of⁷ Gynecological Surgery⁸ Pathology, Hôspital Européen Georges Pompidou, 75015 Paris, France⁹ AP-HP, Department of Pathology, Centre Hospitalier Intercommunal de Créteil, 94010 Créteil, France¹⁰ AP-HP, Department of Pediatrics, Groupe Hospitalier Necker-Enfants Malades, 75015 Paris, France¹¹ Laboratory of Molecular Genetics, Pharmacogenetics, Hormonology, Hôspital Bicêtre, 94275 Le Kremlin-Bicêtre, France¹² INSERM U 693, Faculté de Médecine Paris Sud 11, 94275 Le Kremlin-Bicêtre, France¹³ INSERM U 854, Université Paris Sud XI, 94275 Le Kremlin-Bicêtre, France

(Correspondence should be addressed to P Touraine who is now at Department of Endocrinology and Reproductive Medicine, Groupe Hospitalier Pitié-Salpétrière, 75651 Paris Cedex 13, France; Email: philippe.touraine{at}psl.aphp.fr)

Objective: Premature ovarian failure (POF) encompasses a heterogeneous spectrum of conditions, with phenotypic variability among patients. The etiology of POF remains unknown in most cases. We performed a global phenotyping of POF women with the aim of better orienting attempts at an etiological diagnosis.

Design and methods: We performed a mixed retrospective and prospective study of clinical, biological, histological, morphological, and genetic data relating to 357 consecutive POF patients between 1997 and 2008. The study was conducted at a reproductive endocrinology referral center.

Results: Seventy-six percent of the patients presented with normal puberty and secondary amenorrhea. Family history was present in 14% of the patients, clinical and/or biological autoimmunity in 14.3%. Fifty-six women had a fluctuating form of POF. The presence of follicles was suggested at ultrasonography in 50% of the patients, and observed in 29% at histology; the negative predictive value of the presence of follicles at ultrasonography was 77%. Bone mineral density alterations were found in 58% of the women. Eight patients had X chromosomal abnormalities other than Turner's syndrome, eight other patients evidenced FMR1 pre-mutation. Two other patients had autoimmune polyendocrine syndrome type 2 and 1.

Conclusion: A genetic cause of POF was identified in 25 patients, i.e. 7% of the whole cohort. POF etiology remains most often undiscovered. Novel strategies of POF phenotyping are in such content mandatory to improve the rate of POF patients for whom etiology is identified.

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