To date, more than 40 variants in the POU1F1 gene associated with hypopituitarism are reported, most located within the POU-specific and POU-homeodomains, as summarised in Figure 2 [4,5,8,9,10,11,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41,42], including large deletions encompassing part of the gene or entire coding region [10,43,44,45]. Here, POU1F1 is linked to hypopituitarism.