Mutations of the NR5A1 gene can often determine other associated pathologies, including splenic and blood anomalies, endocrine anomalies, such as hypogonadism, bilateral anorchia or cryptorchidism, male infertility, ovarian failure, adrenal tumorigenesis, polycystic ovary syndrome, endometriosis, and anomalies of the nervous, skeletal, and cardiovascular system [16,34,35]. The gene discussed is NR5A1; the disease is endometriosis.