Anti-Mullerian Hormone Deficiency in Girls With Congenital Multiple Pituitary Hormone Deficiency

Abstract

Anti-Mullerian hormone (AMH) is believed to validly reflect the ovarian reserve. We wanted to test whether congenital absence of gonadotropin stimulation of the ovaries affects AMH production. The objective of the study was to test the validity of AMH as a marker for the ovarian reserve in females with congenital multiple pituitary hormone deficiency (MPHD; deficiency of three or more axes). This was a retrospective laboratory study. The study was conducted in the Department of Pediatric Endocrinology in a tertiary center. The AMH serum levels were assessed in females with congenital (n = 16; median age 12.5 y, range 0.7-31 y) or acquired (n = 20; 18.5 y, range 2-33 y) MPHD and in controls with short stature (n = 100; 9.7 y, range 2-17 y). AMH was measured by AMH Gen II ELISA from Beckmann Coulter. In the controls, AMH ranged between 1.8 (P3) and 67.8 pmol/L (P97). Three patients with a severe form of congenital MPHD were AMH deficient, whereas the other 33 patients with MPHD had normal AMH levels. There was significantly more AMH deficiency in congenital than in acquired MPHD (P < .05). Most girls with MPHD have normal serum AMH levels. However, some females with severe congenital MPHD are AMH deficient. This deficiency might be the result of the total absence of gonadotropins. In these females, AMH is unlikely to be an accurate prognostic parameter of the efficacy of fertility treatment.