Endocrine Abstracts

Introduction: Generously supported by IPSEN)-->Insulin tolerance test (ITT) is considered as the gold standard assessment for hypothalamic–pituitary–adrenal axis (HPA) integrity. Short synacthen test (SST) is a relatively simple, low-cost and well tolerated first line test of HPA despite concerns regarding accuracy. The glucagon stimulation test (GST) is often used as an alternative to the ITT. Although less reliable, it is...

Diabetic nephropathy, the leading cause of end-stage renal disease, is characterized by a pro-apoptotic and pro-oxidative environment. The mechanisms by which lifestyle interventions, such as exercise, benefits diabetic nephropathy are unknown. We hypothesized that exercise inhibits early diabetic nephropathy via attenuation of the mitochondrial apoptotic pathway and oxidative damage. Type 2 diabetic db/db and normoglycemic wild type mice were exercised for an hour ever...

We present a case of a 56-year-old male who reported to us with history of instability of gait since one year which was acute in onset and progressive, there was also history of hearing impairment and constipation since 3 years without improvement despite several symptomatic treatments. There was no history of weakness in any part of body, headache, vomiting, convulsions or alteration of sensorium. There was no history of trauma to the head, fever or drug intake. On examinatio...

Introduction: Pheochromocytoma is a rare tumor of chromaffin cells localized in the adrenal gland. It is responsible of secretion of catecholamines in a supra physiologic amount, leading to hypertension. Some patients may present with hypotension despite having high circulating levels of catecholamines. The challenge is to stabilize blood pressure by medication in cases with fluctuation of blood pressure.Case presentation: 49-year-old woman suffered from...

Introduction: The treatment of Graves’ disease is represented principally by anti-thyroid drugs, radioiodine ablation or thyroidectomy. Methimazole is the most used drug for the initial treatment. It is rare to encounter patients with resistant hyperthyroidism despite high doses of MMI.Case presentation: A 41-year-old woman was referred to our unit for resistant thyrotoxicosis. She had a confirmed Graves’ disease with positive serum Trab. Whils...

Isolated hyperreninemic hypoaldosteronism presents in infancy with failure to thrive, hyponatremia, hyperkalemia, markedly elevated plasma renin activity, and low or inappropriately normal aldosterone. It is usually caused by mutations in the CYP11B2 gene encoding aldosterone synthase. Patients have normal cortisol levels and no features of congenital adrenal hyperplasia. We report a patient who presented with hyperreninemic hypoaldosteronism in early infancy.<p class="abs...

vHL disease is commonly inherited in an autosomal dominant fashion. Pancreatic lesions in vHL are generally asymptomatic or associated with mild nonspecific symptoms.Case history: A 40 year old Asian female was seen in genetic/endocrine clinic for Predictive vHL mutation. She was married to her first cousin and had a 19 years old daughter. Her sister was diagnosed with vHL in Canada. She presented with Renal cell carcinoma and renal cysts. Her mother die...

Introduction: Congenital hyperinsulinism (CHI) typically presents in the neonate, however a minority of cases (~ 35%) present later in infancy and childhood. We report the challenging case of an older infant presenting with hypoglycaemia, diagnosed with CHI and managed entirely within a secondary care setting.Case report: A 9-month-old macrosomic (99th centile) infant presented to the Children’s Emergency Department with hypoglycaemia and a 1 week h...

Beckwith–Wiedemann syndrome (BWS) is an overgrowth syndrome caused by multiple epigenetic and genetic changes. It is due to genetic and epigenetic mechanisms affecting the balance of imprinted genes on chromosome 11p15.5. This region has two imprinted control regions, ICR1 and ICR2. ICR1 contains the genes H19 and IGF2 genes with H19 being maternally expressed and IGF2 paternally expressed. ICR2 contains the KCNQ1, KCNQ1OT1, and CDKN1C genes. Hypomethylation of KvDMR1 (an...

A 75-year-old man was admitted acutely with a 1 week history of headaches, reduced visual acuity, diplopia and ptosis of his left eye. Examination confirmed a left III and VI nerve palsies with decreased visual acuity in the left eye. A CT and subsequent MRI revealed pituitary mass lesion measuring 2.4×2.1×1.5 cm with extension into the left cavernous sinus. The pituitary stalk appeared thickened and was deviated to the right. The optic apparatus was uninvolved.<...