Endocrine Abstracts

Introduction: We do not fully understand why some hypothyroid patients complain of persistent symptoms despite normalisation of TSH with levothyroxine therapy. Recent evidence in adults suggests that polymorphism in deiodinase2 enzyme could lead to lower level of T3 in some tissues and persistence of symptoms. A combination therapy with T3/T4 may improve symptoms especially psychological well-being, mood and memory in such patients. Combination...

Introduction: Hypoparathyroidism is an uncommon condition in children characterized by hypocalcemia and hyperphosphatemia due to defective synthesis /secretion of parathyroid hormone (PTH), end organ resistance or an inappropriately activated calcium-sensing receptor (CaSR). Clinical symptoms include muscle spasms, stridor, seizures, and syncope. It is rare for a child with this condition to present with cardiac failure at diagnosis. The therapeutic approaches...

Background: Biochemical evidence of adrenal insufficiency (AI) is reported commonly during inhaled corticosteroid (ICS) treatment for asthma. The significance of mildly abnormal results is uncertain. For this reason we adopt a stratified approach to the management of patients with impaired cortisol responses to the low dose short Synacthen test (LDSST): Patients with peak cortisol 350–499 nmol/l (‘suboptimal’) receive hydrocortisone 20 mg/m2 per day d...

Introduction: Anti-thyroid medications are the first line therapy for children and young people with Grave’s disease (GD). Some studies have shown remission rates up to 40–50%; however long-term follow up studies have reported much lower remission rates in children compared to adults.Aim: To review the long-term follow up and management of adolescents with Grave’s disease in a single tertiary centre in the UK.Methods...

Case report: A 13-year-old male presented with a 10-day history of vomiting. He was haemodynamically stable. His biochemistry was evaluated revealing a sodium level of 96 mmol/l. He had been seen 2 years previously with short stature. Sodium was normal at this time. He had speech and language delay, learning difficulties and was under investigation for autism. He had reportedly salt craved for years. Potassium, urea, creatinine, and glucose were normal throughout the admission...

Background: Early diagnosis of girls with turner syndrome (TS) is essential to provide timely intervention and support. The screening guidelines for TS suggest karyotype evaluation in patients presenting with short stature, webbed neck, lymphoedema, coarctation of aorta or >two dysmorphic features (nail dysplasia, high arched palate, short fourth metacarpal or strabismus).Objectives: The aim of the study was to determine the age and clinical features...

Background: Adolescent polycystic ovarian syndrome (PCOS) is being diagnosed more frequently as the prevalence of childhood obesity increases. Adolescent PCOS has been associated with low birth weight (LBW), exaggerated adrenarche (EA) and metabolic syndrome in Mediterranean populations. This study describes the clinical phenotype of a cohort of northern European girls.Methods: A retrospective study of adolescents with PCOS, diagnosed according to the Ro...

Background: Hypocortisolaemia is common in neonates1 and infants following cardiac surgery.2 In critically ill children with other pathologies, hypocortisolaemia may result from accelerated cortisol metabolism and reduced protein binding. However, the timing and frequency of normalisation of cortisol concentrations following infantile critical illness is poorly described.Objective: To describe the natural history of hypocortisolaemi...

Introduction: Graves’ disease (GD), although the most common cause of hyperthyroidism, is relatively uncommon in children, usually manifesting insidiously. Thyroid storm is a well described but rarely seen phenomenon in childhood GD; thyrotoxic crisis is less often discussed and its management can be challenging. We describe a case of GD with thyrotoxic crisis.Case: A 14-year-old female, known to have inadequately c...

Case report: A 9-year-old girl of mixed ethnic origin presented with symptomatic hypercalcaemia with a 3-month history of weight loss and lethargy. Autoimmune hypothyroidism had been diagnosed 10 months previously. Serum vitamin D concentration (11 nmol/l) was low and cholecalciferol 20 000 units daily for 7 days followed by 800 units daily was commenced. One month later, her symptoms worsened and she had developed anaemia and renal impairment. Hypercalcaemia was noted (Corr C...