Endocrine Abstracts

Introduction: Primary Osteoma Cutis is associated with Albrights Hereditary osteodystrophy (AHO) due to inactivating GNAS mutation. It is inherited in an autosomal dominant or sporadic manner. Phenotype in GNAS mutation is varied due to parent specific gene expression. Maternally inherited GNAS mutation leads to hormone resistance, but paternally inherited mutation leads to AHO features without hormone resistance. Medulloblastoma is the most common m...

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...

Background: X-linked hypophosphataemia (XLH) is a genetic condition that causes significant skeletal deformities and is associated with lifelong disability and pain. In October 2018, the NHS in England recommended burosumab, an anti-FGF23 antibody, for treating XLH with radiographic evidence of bone disease in children aged 1 year and over, and in young people with growing bones. The clinical and cost effectiveness of burosumab for treating adults with XLH is ...

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...

Introduction: Pseudohypoparathyroidism (PHP) is a group of heterogeneous disorders causing parathyroid hormone (PTH) resistance. The features could include Albright’s hereditary osteodystrophy phenotype (AHO) [brachydactyly, short stature, obesity, round face, ectopic ossifications, intellectual disability]. The condition is rare with an estimated prevalence of 0.34-1.1 in 100,000 and the clinical presentation can be variable. Herein, we present 8 patients with PHP from t...

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: 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...

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...