ESPE Abstracts

Childhood-onset growth hormone deficiency (CO-GHD) is topical at present due to the increasing understanding of underlying genetic aetiologies, influence on childhood growth, and future effects on adolescence and adult health. There is no previous Irish data of this group of children.Methods: A retrospective cohort study over 2 years (2013-2015) including all children diagnosed with GHD who received recombinant growth hormone treatment (rGH). Predictors ...

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...

Introduction: Resistance to thyroid hormone (RTH) is a rare autosomal dominant condition characterised by tissue-specific insensitivity to thyroid hormone. In 85% of cases the disorder is associated with thyroid hormone receptor β (TRβ) gene mutations.Case report: A 2.6-year-old boy was referred to the Paediatric service with abnormal thyroid function tests (TFTs) (fT4 30.4 pmol/l; RR 12–26, fT3 10.2 pmol/l; RR 3.7&#1...