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...

Background: Childhood type 1 diabetes (T1DM) is associated with poor quality of life and significant family burden. Children, parents, extended family members and teachers were invited to a novel 2 day structured educational programme, ‘Pump SchooI’, delivered by a Consultant Led multidisciplinary team. Each Pump School included two age-matched children.Objective and hypotheses: To evaluate the effect of continuous s.c. insulin infusion (CSII) ...

Background: Management of people with T1DM on intensive insulin therapy (IIT) uses algorithms based on the meal carbohydrate (CHO) content (MCC) to calculate prandial insulin dose. Typically, these calculations do not consider the meal content of fat or protein.Objective: To determine if the postprandial blood glucose (BG) response to varying fat content is dose dependent when standard insulin bolus is given based on MCC.Methods: R...

Background: Cardiofaciocutaneous syndrome (CFCS) is a rare autosomal dominant (AD) condition characterized by cardiac abnormalities, a distinctive craniofacial appearance and short stature. Endocrine manifestations include GH deficiency and precocious puberty. CFCS is part of the RASopathy group including Noonan, LEOPARD, and Costello syndromes. The four associated genes are BRAF (~75%), MAP2K1 and MAP2K2 (~25%), and KRAS (<2%). Most individuals represent new sporadic muta...

Background: Diabetes insipidus (DI) is characterised clinically by the inappropriate production of large volumes of dilute urine even in the presence of clinical dehydration or deprivation of water. DI occurs either due to a deficiency or insufficiency of arginine vasopressin (AVP) hormone production. Hereditary DI accounts for <10% of the DI cases. As hyponatraemic seizures secondary to inappropriate use of desmopressin can occur, caution is required before a diagnosis of...

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...

Background: Psychosocial factors may be fundamental explaining poor glycaemic control in children with type 1 diabetes (T1DM). Anxiety, depression are well described in children with T1DM. According to Kauffman (2012), diabetes management can only be successful if psychosocial needs are assessed and addressed.Objective and hypotheses: To examine the association between glycaemic control and scores on two screening tools measuring psychosocial risk and em...

Background: Screening guidelines for vascular complications in children with type 1 diabetes (T1DM) are based on results from Diabetes Control and Complications Trial (DCCT) and its follow-up, the Epidemiology of Diabetes Interventions and Complications (EDIC) trial. These studies established conclusively that early and intensive diabetes care improves long-term outcomes.Objective and hypotheses: To establish screening practices and prevalence of vascula...

Background: Gonadoblastoma is a rare tumour of the gonads presenting in childhood or adolescence. It is a lesion composed of a mixture of germ cells at different stages of maturation, with low malignant potential. It is associated with disorders of sex development (DSD), most commonly Turner mosaic syndrome with Y chromosome material (TMSY), and 46XY gonadal dysgenesis (GD). Little is known about the natural history and incidence of this rare tumour.Obje...