Endocrine Abstracts

Mutations in GHR, STAT5B and IGF1 lead to GH-insensitivity but often the cause of reduced GH-sensitivity remains unknown. We describe the identification of a mutation in the MVK gene encoding mevalonate kinase (MK) in a pedigree investigated for STAT5B-deficiency.A 15-year-old male born to consanguineous parents was referred for short stature (height 125.8 cm; −5.6 SDS) and arthritis. He presented, aged 2 years, with fev...

A 70-year-old female with known schizophrenia presented in hyperthyroid crisis. Examination revealed muscle wasting, tremor, sweating, low-grade fever, and sinus tachycardia. Biochemistry confirmed the diagnosis (TSH <0.1 mlU/l, thyroxine 41 pmol/l (9–25), tri-iodothyronine 25 pmol/l (3.5–6.5)). The patient was commenced on i.v. esmolol and carbimazole (40 mg) crushed into warm milk.However, lacking mental capacity, and refusing to take all...

A 51-year-old female presented with a 9 month history of symptoms suggestive of hypoglycaemia and associated episodes of unconsciousness, which were prevented by frequent food intake but with subsequent weight gain. She reported a history of lactose-induced anaphylaxis and the use of lactose-free subcutaneous prednisolone since sustaining a traumatic cardiac injury in 1987.Two supervised prolonged fasts demonstrated hypoglycaemia with elevated insulin le...

Mitotane (o,p’DDD) is an effective oral adrenolytic agent for treatment of advanced adrenocortical carcinoma (ACC). Inhibition of cortisol biosynthesis has been described. Cortisol metabolic clearance rate is unchanged, but decreased cortisol biovailability is indicated by increased dose requirement for hydrocortisone replacement during mitotane treatment. Urinary excretion of common cortisol metabolites (CM) has been reported to be normal but with increase of 6β-hyd...

The glucagon stimulation test is commonly used to assess the hypothalamic–pituitary axis when the insulin stress test (IST) is contraindicated. The mechanism behind glucagon induced secretion of GH and cortisol is unclear. To determine whether these responses are dependent on symptoms during the glucagon test, a retrospective case note study of glucagon tests performed over 3 years in patients with pituitary disease was undertaken.Methods: Fifty-six...

Introduction: Current guidelines recommend that thyroid nodules classified as Thy 3 following fine needle aspiration (FNA) should be managed surgically. This results in over-treatment of benign disease. The purpose of this study was to review multi-disciplinary team (MDT) management of Thy 3 FNAs at our institution.Patients and methods: A total of 109 FNAs were performed between April 2008 and October 2009; 31 were reported as Thy 3. The management of al...

Introduction: 18-hydroxycortisol (18-OHF) is known to be elevated in glucocorticoid remediable aldosteronism but there are few data relating to 18-OHF in the differential diagnosis of primary aldosteronism.Aim: We evaluated the usefulness of lying and standing 18-OHF in patients with primary aldosteronism in differentiating between aldosteronoma, bilateral adrenal hyperplasia (BAH) and normality.Methods: Patients (n=27) with...

Most authorities recognise adult growth hormone deficiency (AGHD) as a distinct endocrine disorder, although determining an appropriate strategy for optimising replacement remains controversial.We reviewed the outcome of a cohort of patients treated with a fixed graded initiation phase followed by an individualised titration phase. Patients were initiated on a starting dose of 0.3 mg recombinant human growth hormone (rhGH) for one month, with increases t...

Introduction: Moderate hyperprolactinaemia occurring in a patient with a normal pituitary MRI, assuming macroprolactin and stress are excluded, is generally considered to be due to a lesion below the level of detection of the MRI scanner. Most patients with mild-moderate hyperprolactinaemia and a normal MRI respond to dopamine agonist therapy. We describe a patient who had prolactin elevation typical of a prolactin-secreting macroadenoma, but with a normal MRI, and in whom the...

Insulin Tolerance Test (ITT) is a procedure commonly done by Endocrine Specialist Nurse in endocrine department. We look at over 120 ITT results done in 2 endocrine centres using Insulin Actrapid 0.15 UNITS/kg and 0.10 UNITS/kg dose plotting the glucose levels at 30, 45 and 60 min. We also look at peak GH and peak cortisol on each of these groups.Aims: We wanted to know how many percentage of patients achieving hypoglycaemia below 0.5 mmol/l, 0.5–1....