The genetic testing indications were as follows (Figure 1): 113 (29.3%) patients with POI (established amenorrhea/oligomenorrhea and FSH > 25); 12 patients (3.1%) with a family history of the FMR1 mutation; 93 patients (24.2%) were infertile normo-ovulatory and young (≤35 years old) women with DOR, defined as antral follicle count (AFC) < 5 and anti-Mullerian hormone < 1.1 ng/mL (according to POSEIDON criteria); and 35 patients (9.1%) for other causes, including consanguinity cases, non-sterile patients in other endocrinological studies, request errors, or patients older than 40 years. The gene discussed is BRD2; the disease is amenorrhea.