hrp0086p2-p771 | Pituitary and Neuroendocrinology P2 | ESPE2016

Compound Heterozygosity for Two Novel POU1F1 Mutations in Siblings with Isolated Childhood Onset Growth Hormone Deficiency (CO-GHD)

Grace Mariana , Nagel Mato , Joyce Caroline , Morissey Rose , O'Connell Susan

Background: CO-GHD can be caused by a variety of aetiologies, including pituitary or brain structural abnormalities, and increasingly recognised genetic mutations of pituitary transcription factors. Idiopathic GHD is a diagnosis of exclusion. POU1FI is a late pituitary transcription factor. Mutations of POU1F1 have autosomal recessive (AR) inheritance, and phenotypically present with a normal or small anterior pituitary gland on magnetic resonance imaging (MRI), they are assoc...