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Primary Ovarian Insufficiency due to Steroidogenic Cell Autoimmunity Is Associated with a Preserved Pool of Functioning Follicles

Mother-Infant Department (A.L.M., A.V.), Section of Obstetrics and Gynecology, University of Modena and Reggio Emilia, 41100 Modena, Italy; Department of Internal Medicine (S.M., A.B., V.B., A.F.), Section of Internal Medicine and Endocrine and Metabolic Sciences, University of Perugia, 06126 Perugia, Italy; Department of Medicine and Pharmacology (G.S., A.C.A.), University of Messina, 98122 Messina, Italy; Department of Clinical and Biological Sciences (R.G.), University of Turin, San Luigi Hospital, 10043 Orbassano, Italy; and Department of Clinical and Experimental Medicine and Surgery (A.D.B.), "F. Magrassi, A. Lanzara," Second University of Naples, 81100 Naples, Italy

Address all correspondence and requests for reprints to: Alberto Falorni, M.D., Ph.D., Department of Internal Medicine, Section of Internal Medicine and Endocrine and Metabolic Sciences, Via E. Dal Pozzo, 06126 Perugia, Italy. E-mail: alberto.falorni{at}unipg.it.

Context: Primary ovarian insufficiency (POI) is defined as hypergonadotropic amenorrhea before the age of 40 yr. In 4–5% of patients with POI, an ovarian autoimmune process is present.

Design: Serum concentrations of antimüllerian hormone (AMH) have been determined in 26 women with POI due to steroidogenic cell autoimmunity (SCA-POI), 66 with nonautoimmune idiopathic POI (iPOI), 40 postmenopausal women (PMW), and 44 healthy fertile women (HW). SCA-POI was diagnosed according to presence of steroidogenic enzyme autoantibodies (17-hydroxylase, side chain cleavage, and 21-hydroxylase autoantibodies).

Results: AMH concentrations were significantly higher in women with SCA-POI than women with iPOI (P = 0.018) or PMW (P = 0.03) but significantly lower than HW (P < 0.0001). AMH was detected in 11 of 26 women with SCA-POI (42%) and seven of 66 with iPOI (11%) (P = 0.002). Serum concentrations above the fifth percentile of the normal range (0.6 ng/ml) were detected in nine of 26 women with SCA-POI (35%) and four of 66 with iPOI (6%) (P = 0.001). Eight of 12 women with SCA-POI with less than 5 yr (67%) and one of 14 with longer disease duration (7%) had AMH concentrations within the normal range (P = 0.003). AMH concentrations correlated inversely with disease duration in women with SCA-POI (rho = –0.563, P = 0.003) but not women with iPOI. AMH correlated inversely with FSH serum concentrations in HW (rho = –0.584, P < 0.001) but not PMW or women with POI.

Conclusions: Two thirds of women with recent-onset SCA-POI had normal AMH concentrations. Women with SCA-POI, differently from those with iPOI, present a preserved ovarian follicle pool for several years after diagnosis of ovarian insufficiency.