Genetic screening of regulatory regions of pituitary transcription factors in patients with idiopathic pituitary hormone deficiencies

ConclusionAlthough the newPOU1F1 variant might explain the phenotype of one patient, the general conclusion of this study is that variants in regulatory regions ofPROP1, POU1F1 andHESX1 are rare in patients with sporadic CPHD in the Netherlands. We recommend that genetic screening of these pituitary transcription factors should no longer be part of routine work-up for Western-European, and especially Dutch, sporadic CPHD patients.
Source: Pituitary - Category: Endocrinology Source Type: research