Hormonal profiling (Table 1) showed hypogonadism (low estradiol [21 ng/L] and testosterone [<0.10 ng/mL]), with elevated gonadotropins (FSH 11.36 mIU/mL, LH 17.96 mIU/mL), and adrenal insufficiency (cortisol 79 nmol/L with ACTH elevation [96.3 pg/mL]). The gene discussed is PLOD1; the disease is Adrenal insufficiency.