She also had primary amenorrhea with clinical, biochemical and imaging-based evidence of partial hypogonadotropic hypogonadism including retarded bone age, delayed development of secondary sexual characteristics, and a small uterus, all in the context of relatively low luteinizing hormone (LH), follicle stimulating hormone (FSH) and estradiol levels (Table 1). The gene discussed is PLOD1; the disease is hypogonadotropic hypogonadism.