The role of anti-Mullerian and inhibin B hormones in the evaluation of 46,XY disorders of sex development.

Abstract

To assess the sensitivity and specificity of anti-Mullerian hormone (AMH) and inhibin B for diagnosis of 46,XY disorders of sex development (DSD). The study included 43 patients of 46,XY DSD and compared them with 43 healthy, male, age matched controls. All patients underwent karyotyping, assessment of testosterone, dihydrotestosterone (DHT) and Δ4-androstendione (Δ4A) basal and after human chorionic gonadotropin (HCG) testing. Basal dehydroepiandrosterone (DHEA) was measured. Ultrasonograghy was also done and some cases underwent laparoscopy or gonadal biopsies. Basal AMH and inhibin B were measured in both cases and controls. The mean age of patients was 5.16±4.24 years. There were significant correlations between basal AMH and HCG stimulated testosterone and DHT (r=0.64; p<0.001 and r=0.52; p<0.001, respectively). Also, significant positive correlations were found between inhibin B and HCG as well as stimulated testosterone and DHT (r=0.62; p<0.001 and r=0.44; p=0.003, respectively). A highly significant correlation was found between AMH and inhibin B (r=0.78; p<0.001). The sensitivity of AMH was (96.6%), specificity (60.7%), NPV (89.5%) and PPV (83.6%). Best cut-off value was (27.11 IU/mL) while overall accuracy was (85%). The sensitivity of inhibin B was (96.6%), specificity (67.9%), NPV (90.5%), PPV (86.2%), and best cut-off value was (41.9 IU/mL) with an overall accuracy (87%). AMH and inhibin B are valuable, and reliable noninvasive parameters for the detection of functioning testicular tissues in prepubertal patients.