PLOD1 and Gynecomastia: This patient showed a relatively developed penis (length of 4 cm), no gynecomastia, extremely elevated serum LH (51.33 mIU/ml) and FSH (79.94 mIU/ml) levels, relatively lower T (2.8 ng/ml, normal range 1.42–9.23 ng/ml) level and significantly reduced AMH level (0.44 ng/ml) (Additional file 1: Table S3).