ESPE Abstracts

Background: Diabetic ketoacidosis (DKA), a frequent complication of type 1 diabetes (T1D), is characterized by hyperosmolar hypovolemia. The response of water-regulating hormones to DKA treatment in children is not well known. While arginine vasopressin (AVP) is thought to respond to changes in osmolality, aldosterone and atrial natriuretic peptide (ANP) are expected to respond to volume changes (dehydration and overhydration, respectively). The objective of t...

Managing Graves' disease (GD) should be simple. Stop the immune system from targeting the TSH receptor and the disease is cured. Unfortunately this is not yet feasible in most young people and GD is not a trivial condition for those affected. There are significant advantages and disadvantages of all current treatments with no easy way forwards for many and the family's decisions will reflect their perceptions of medical, radiation and surgical risk. The fact that two o...

Background: Treatment options in extremely tall adolescents are limited. Bilateral epiphysiodesis has been reported to be a safe and effective method to reduce predicted final height. However, there is still limited data on final height and long-term safety.Objective: The aim was to assess the safety and efficacy of bilateral epiphysiodesis to reduce adult height in adolescent girls and boys with extreme tall stature.</p...

Introduction: Pharmacological doses of glucocorticoids (GC) reduce inflammation and preserve muscle function in boys with Duchenne muscular dystrophy (DMD) but cause almost universal pubertal delay. Long term consequences of GC on androgen status in young men who have received testosterone for pubertal induction remain unknown.Objective: To determine the longer-term outcome after a 2-year pubertal induction regimen using...

Context: Abnormal growth and short stature are observed in patients with mitochondrial disease but it is unclear whether there is a relationship between growth, stature and muscle phenotype.Objectives: To examine growth and final height in patients with genetically confirmed mitochondrial disease, to describe growth patterns in the principle underlying genetic subgroups and to establish whether stature is related to disease severity.<p class="abstext...

Background: Mutations in the side chain cleavage enzyme, (CYP11A1) cause congenital adrenal insufficiency, with complete or partial 46XY sex reversal. The disorder manifests with adrenal and gonadal insufficiencies along with derangements of the renin/angiotensin system.Objective and hypotheses: To obtain a genetic diagnosis in six patients with adrenal insufficiency of unknown aetiology. Patients 1 and 2 are sisters with ACTH resistance, having...

Key Words: Congenital Adrenal Hyperplasia, Advanced bone age, Aromatase inhibitors, Predicted Adult HeightIntroduction: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is characterized by cortisol and mineralocorticoid deficiency with excess adrenal androgen production. Standard treatment includes glucocorticoid and mineralocorticoid replacement. Slightly supraphysiological glucocorticoid r...

Background: The recommended capillary TSH cut-off level for neonatal screening for congenital hypothyroidism (CH) in the UK is 10 mIU/l. However several of the regional screening laboratories have adopted lower cut-off limits in order to increase detection sensitivity. There is now pressure to standardise the UK screening programme with universal adoption of the recommended cut-off. Scotland has been using a cut-off of 8 mIU/l since the adoption of AutoDELFIA TSH screening met...

Introduction: Co-existence of congenital hypopituitarism and congenital hyperinsulinemia is extremely rare. We present a case of congenital hypopituitarism and hyperinsulinemic hypoglycemia with a novel FOXA2 mutation.Case: A 22-month-old girl was referred to pediatric endocrinology due to short stature. She was the first child of healthy, non-consanguineous parents with no relevant family history. Delivery was by cesarean secti...

Introduction: Graves' disease is the most common paediatric cause of hyperthyroidism. Although hyperthyroidism has been reported to cause a decrease in bone mineral density (BMD), its association with recurrent bone fractures is extremely rare.Case: A 10-year-old male patient, who had a pre-existing 7-year diagnosis of autism spectrum disorder, presented to emergency with right leg pain that started after collision with an armchair. On initial exami...