Endocrine Abstracts

We present 3 children in a single centre with Myhre syndrome (MS) due to a heterozygous SMAD4 Ile500val mutation. Consistent features were brachydactyly, joint restriction, muscular hypertrophy, genital abnormalities, conductive hearing loss and developmental delay. SGA and height were variable. Diagnosis was made by next generation sequencing in patients 1 and 3 and on the skeletal survey in patient 2. Retrospectively, features of Myhre syndrome were present on the s...

SDH mutations that contribute 15%–20% of PCC/PGL syndromes predispose to the development of tumours that originate from Adrenal, Parasympathetic and extra-adrenal sympathetic-associated chromaffin tissues. We conducted a retrospective analysis to identify the prevalence of PCC/PGL and elevated biomarkers during initial screening in patients newly identified as carrying a pathogenic SDH mutation.Method: Data collection from our random cohort of patie...

Background: Mounting evidence points to an association between increased glucocorticoid (GC) action and weight gain. However, the response to GCs is not only determined by GC serum concentrations, but also by individual differences in tissue-specific sensitivity, influenced by genetic and acquired (e.g. disease-related) factors. The extent to which differences in GC sensitivity may influence development of (abdominal) obesity, or vice versa, is poorly understood. In this study...

Objectives: Primary - Study of Correlation between Serum Osteoprotegerin, and Biomarkers of Bone Metabolism in Patients with treatment-naive Graves’ Disease (GD). Secondary- Serum level of Osteoprotegerin, TNF alfa and Biomarkers of Bone Metabolism in Patients 3 months after treatment of GD with methimazole (MMI).Material and Methods: A total of thirty-five treatment-naive newly diagnosed GD were recruited for the study, most of them were female. Al...

The first case is a 19-year-old male who presented to his GP with lumbar pain, scrotal bruising, and weight loss. Abdominal CT showed a left 6.4 cm x 12 cm suprarenal mass; the right adrenal gland was atrophic. Plasma metanephrines and MIBG were normal. Urinary steroid profile (USP) showed raised 11-deoxycortisol, consistent with adrenocortical carcinoma (ACC). He underwent a left nephrectomy and adrenalectomy. Histology confirmed ACC. The lesion was encapsulated with negative...

Introduction: 99m/Tc-MIBI parathyroid scintigraphy (MIBI) is the most common test used for pre-operative localization of parathyroid adenoma in primary hyperparathyroidism. We evaluated the influence of serum calcium and parathyroid hormone (PTH) levels on sensitivity of MIBI imaging in successful parathyroid localisation in patients identified as having primary hyperparathyroidism.Methods and material: Retrospective review of 403 patients who had MIBI s...

Case history: 22 year old female presented with left sided hemiparesis following a generalised seizure; the blood glucose was 1.2 mmol/l. Corrective treatment restored cerebral function. In the preceding 6 months, she had symptoms of drowsiness on waking which corrected with sugary drinks and described tiredness with lethargy. There had been no reported change in appetite or bowel habits however, there had been a degree of weight loss during this period. During hospital admiss...

Dehydroepiandrosterone (DHEA) has been a subject of controversy for more than a decade being called ‘a miracle hormone’, the ‘elixir of life’ and ‘an anti-aging supplement’. However, recent literature has proven mild to moderate benefit in selected group of patients. Data is mostly limited to primary adrenal failure patients with adequate glucocorticoid and mineralocorticoid replacement and in hypopituitarism from variable aetiology associated wit...

Background, aims: Acromegaly is caused by excessive growth hormone (GH) secretion, usually by a pituitary adenoma. Surgical removal of the GH-producing adenoma is the most effective treatment. Drug treatment is second-line option. Earlier work suggested Soluble (s)Klotho levels to be a supplementary biomarker to IGF-1. We tested whether IGF-1 and sKlotho serum levels show a concomitant reduction under medical treatment. If yes, is the extent of reduction in serum IGF-1 and sKl...

Germline mutations account for hereditary phaeochromocytoma (PCC) and paraganglioma (PGL) syndromes. SDHB immunostaining can be used to functionally characterise SDH status on PCC and PGL tumours. Genetic testing of multiple candidate genes is increasingly performed in patients presenting with PCC/PGL tumours. We investigated the effectiveness of SDHB immunostaining as an initial screening tool in identifying SDH mutations.This was a retrospecti...