As a result of this expansion in diagnostic sequencing, PROKR2 has been recently linked to pituitary diseases, such as isolated growth hormone deficiency (IGHD) (10–14) combined pituitary hormone deficiency (CPHD), pituitary stalk interruption syndrome (15, 16) and septo-optic-dysplasia (13, 17), as well as a rare case of central precocious puberty (18). The gene discussed is PROKR2; the disease is pituitary stalk interruption syndrome.