NR0B1 and hypogonadotropic hypogonadism: We found two patients with one novel variant (c.323–324 CG > GA and c.1231_1234delCTCA) and one infant with an NR0B1 deletion that manifested as PAI, mineralocorticoid deficiency and diminished adrenal glands; however, no hypogonadotropic hypogonadism was noted due to the patient’s young age.