Endocrine Abstracts

Introduction: Diabetic neuropathy is often a late manifestation of diabetes. Moreover its incidence in the paediatric age group is very rare. We present here a case of motor neuropathy as a first presenting feature of Type 1 diabetes mellitus.Case Report: A fourteen-year-old girl presented with right foot drop, which had progressively worsened over the last ten days. There was no other CNS or systemic involvement. Parents denied any history of pain, para...

Case history: We report the case of a previously healthy 69-year-old female who was referred to our centre after she presented with rapidly progressive weight-gain, hyperglycaemia, hypokalaemia and hypertension. She had no symptoms suggestive of carcinoid syndrome. On assessment, she had pathognomonic features of Cushing’s syndrome: central weight gain (peripheral wasting) proximal myopathy, leg oedema, skin thinning, bruising and facial puffiness; this appearance being m...

Childhood obesity is a serious public health challenge. Bariatric surgery is gaining popularity as a treatment modality for severely obese adolescents.Backgrounds: To report the safety and 1 year outcome data on morbidly obese adolescents that underwent bariatric surgery at a tertiary hospital in the UK.Methods: A retrospective review of patients (mean preoperative BMI 50.4 kg/m2; mean BMI SDS +4.2) who underwent bariatr...

Introduction: Duplications of the SOX3 gene at Xq27.1 are known to be associated with a spectrum of forebrain midline defects, isolated or multiple pituitary hormone deficiencies, spina bifida and sometimes learning difficulties. We report three cases of SOX3 duplication with hypopituitarism and differing presentations.Case reports: 1) A male infant presented in neonatal period with poor feeding, prolonged jaundice, central hypothyroidism and inadequate ...

Background: The Covid-19 pandemic has led to various unprecedented challenges and obstacles, especially in the field of Diabetes and Metabolism, many of which are as novel as the pandemic itself. Discovering efficacious therapeutic options resulting in positive outcomes has been a challenge. Dexamethasone has been shown to reduce mortality in patients with Covid-19 pneumonitis who require oxygen therapy and/or ventilation. Exogenous steroid therapy is renowned to cause adverse...

Background: The prevalence rate of Diabetes within Manchester is higher than the national average of England. Association of British Clinical Diabetologists (ABCD) guidance highlights an increased risk of typical and atypical presentations of diabetic emergencies in patients with Diabetes and COVID-19. In the absence of early recognition and treatment, this could lead to adverse outcomes and poor prognosis, thus leading to increased mortality rates.Aims:...

Introduction: Primary hyperparathyroidism (PHPT) is an endocrine condition in which autonomous excessive secretion of parathyroid hormone (PTH) results in hypercalcaemia. In approximately 80% of cases the aetiology is due to a single parathyroid adenoma, the remainder are due to hyperplasia of more than one gland. Familial Hypocalciuric Hypercalcaemia (FHH) is an autosomal dominant, inactivating mutation of the calcium-sensing receptor, causing a right-shift in the concentrati...

Background: Septo-optic dysplasia (SOD) is a rare congenital condition diagnosed in children with two or more of hypothalamo-pituitary axis dysfunction, midline brain abnormalities, and optic nerve hypoplasia. SOD has a heterogenous clinical phenotype, characterised by varying visual impairment and endocrine dysfunction. Autistic-like behaviours have also been reported in children with SOD, however the nature of these neurobehavioural impairments remain to be fully understood....

Introduction: Congenital hypothyroidism (CH) occurs 1 in 3,000-4,000 live-births. The causes of CH can be divided into two groups: thyroid developmental defects (thyroid dysgenesis) and inborn errors of thyroid hormone biosynthesis (dyshormonogenesis). Although mutations in paired box gene 8 (PAX8) usually cause thyroid dysgenesis, they have been reported in association with eutopic thyroid gland without function. PAX8 has been described to have a role in regulating the expres...

Background: Pituitary apoplexy is uncommon in childhood and adolescence. Typical clinical features are acute confusion, headache, vomiting and visual disturbance. It is caused by haemorrhage into the pituitary gland. Its association with cerebral infarction is rare. We report an unusual case associated with a cerebral infarction secondary to internal carotid artery compression.Case: 16 year old male was referred to the ‘Stroke Team’ with acute ...