Endocrine Abstracts

Different multiple endocrine neoplasia (MEN) syndromes have been described in humans. These conditions are characterised by different combinations of multiple endocrine tumors based on specific genetic mutations, mainly the MEN1 gene (MEN type 1 syndrome) or in the RET proto-oncogene (MEN type 2). A syndrome encompassing components of both MEN type 1 and type 2, but which is caused by a mutation in the Cdkn1b gene encoding p27, has been described in rats, the so-called MEN X s...

Sixty six year old gentleman was referred to clinic with hypercalcaemia. He suffered with low mood, “funny turns”, nocturia and loose stools with urgency to open bowels. He appeared tanned but no increase pigmentation in skin folds. There was no palpable lymphadenopathy or neck lump. The calcium levels were around three with low normal PTH of 3.7 (2.8 on repeat). He had not developed any complications like osteoporosis, fracture or renal stones secondary to hypercalc...

Introduction: 85% of cases of primary hyperparathyroidism are caused by a parathyroid adenoma. These are usually small in size, in the range of 70 mg to 1 g. Those weighing more than 2 g are classified as ‘giant adenomas’. Few adenomas weighing more than 30 g have been described in the literature. Here we present one such case.Case report: A 52-year-old female presenting with lethargy was found to have a corrected calcium of 3.15 mmol/l with a ...

Female adrenal failure involves impaired DHEA secretion and very low circulating androgens. To address the impact of a daily physiological substitution dose of capsule DHEA 50 mg on quality of life and sexual parameters, we performed a 6 month trial in a randomised, crossover and placebo controlled design. The trial was approved by the local ethical committee and conducted according to GCP guidelines. Ten patients were enrolled. Seven patients reported seborrhoic side effects ...

Background: Maturity onset diabetes of the young (MODY) is characterized by autosomal dominant inheritance, onset before 25 years of age, absence of β-cell autoimmunity, and sustained pancreatic β-cell function. HNF1A mutations account for 70% of MODY cases. Patients with HNF1A MODY are sensitive to sulfonylureas (SU) and can maintain optimal glycaemic control with SU rather than insulin. We describe 2 siblings from the same family with HNF1A</e...

Background: Childhood obesity is associated with multitude of co-morbidities. Idiopathic intracranial hypertension (IIH) is one of the less common co-morbidities in children and young people. Severe migraine has been postulated as a further association. We report our experience of using topiramate for managing obesity associated IIH and severe persistent migraine.Cases: Case One: A 12 year old boy was referred with morbid obesity, systemic hypertension a...

Introduction: Neonatal diabetes (ND) usually presents before 6 months of age and 50% of cases are transient and 50% permanent with more than 20 known genetic causes. Early recognition and urgent genetic testing are important to enable appropriate, precise treatment. Mutations in KCNJ11 cause ND responsive to glibenclamide, alleviating the need for insulin administration, but there are limited reports of early successful transition.Case: This inf...

Introduction: Congenital hyperinsulinism (CHI) is a rare disease, characterized by an unregulated insulin release, leading to hypoglycaemia. It is the most frequent cause of persistent and severe hypoglycaemia during the neonatal period and early childhood. Mutations in KATP < genes (ABCC8 and KCNJ11), together account for up to 70% of CHI. CHI can either be transient or persistent. Transient CHI tends to resolve spontaneously and is n...

Introduction: B3GAT3, encoding β-1,3-glucuronyltransferase 3, has an important role in proteoglycan biosynthesis. Homozygous B3GAT3 mutations have been associated with short stature, skeletal deformities and congenital heart defects. We describe for the first time, a novel heterozygous splice site mutation in B3GAT3 contributing to severe short stature, growth hormone (GH) deficiency, recurrent ketotic hypoglycaemia, facial dysmorphism and conge...

Introduction: The hyperinsulinism/hyperammonemia (HI/HA) syndrome is the second most common cause of hyperinsulinemic hypoglycaemia (HH), caused by activating mutations in GLUD1 [which encodes the mitochondrial enzyme glutamate dehydrogenase (GDH)].Methods: We describe phenotypic variations in three patients from 3 non-related families with HI/HA syndrome due to GLUD1 mutation.Results: Patient 1, a 10-year-old Cau...