Mutations in POU1F1 cause combined pituitary hormone deficiency 1 (CPHD1, MIM #613038), which presents with hypoplasia of the anterior pituitary with multiple pituitary hormone deficiencies, resulting in severe short stature, facial dysmorphism, and poor feeding during infancy [10]. This evidence concerns the gene POU1F1 and hyperinsulinemic hypoglycemia, familial, 4.