SOX2 and hypogonadotropic hypogonadism: Over the last 2 decades, it has become apparent that the phenotypic spectrum relating to SOX2 mutations extends beyond A/M (2) to encompass a spectrum of other ocular defects (coloboma, optic nerve hypoplasia, hypertelorism, short palpebral fissure) and even broader extraocular phenotypes, such as neurocognitive delay, intellectual disability, brain anomalies, seizures, pituitary dysfunction, hypogonadotropic hypogonadism, genital anomalies, sensorineural hearing loss, and esophageal atresia (1).