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Background  Ovarian failure (OF) is considered premature if it occurs before the age of 40.  This study investigates the genetic aetiology underlying OF in women under the age of 40 years.    Methods  We conducted an experimental prospective study performing all genome microarrays in 60 patients younger than 40 years presenting an OF revealed by a decrease of circulating Anti-Müllerian Hormone (AMH) and leading to an oocyte donation program.    Results  We identified nine significant copy number variations (CNVs) including candidate genes potentially implicated in reproductive function. These genes are principally involved in cell division and chromosome segregation ( SYCE1, CLASP1, CENP-A, CDC16 ), in ciliary development and/or function ( RSPH1, KIF24 ), are linked with known gonadal genes or expressed in female genital tract ( CSMD1, SEMA6D, KIAA1324 ).    Conclusions  Our data strengthen the idea that microarrays should be used in combination with karyotype for aetiological assessment of patients with OF. This analysis may have a therapeutic impact as the identification of new molecular actors for gonadal development or ovarian physiology is useful for the prediction of an ovarian reserve decline and makes possible preventive fertility preservation.

Array-CGH diagnosis in ovarian failure: identification of new molecular actors for ovarian physiology