Endocrine Abstracts

Objective: Recently rare heterozogous AMH genetic variants have been identified in women with polycystic ovary syndrome (PCOS) that result in reduced AMH signaling. However, the exact functional mechanism remains unknown. Therefore, we have performed functional analyses to analyze the processing, secretion and signaling of these PCOS-specific AMH rare variants.Methods: Six PCOS-specific AMH variants containing mutations (V12G, P151S, P270S, P352S, P362S,...