Endocrine Abstracts

Background: Wolfram syndrome is an autosomal recessive neurodegenerative disorder characterised by Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness (also referred to as DIDMOAD). An estimated prevalence is 1 in 770,000 and an estimated carrier frequency is 1 in 354. Herein, we describe the course of wolfram syndrome in two female siblings.Case presentations: The first patient is a 30-year ...

Background: Graves’ orbitopathy (GO), also known as thyroid eye disease, is an autoimmune condition and is one of the main extrathyroidal manifestations of Graves’ disease. GO is relatively rare and usually accompanies the onset or develops soon after the Graves’ disease. We present a case of GO that developed 18 years later from total thyroidectomy. Case report: A 64-year-old men presented at the ophthalmology clinic with one-month histor...

Background: Graves’ orbitopathy (GO) is one of the extrathyroidal manifestations of Graves’ disease (GD), an autoimmune condition characterised by increased antibodies against TSH receptors (TRAb). The prevalence of GO among patients with GD is up to 40%. Moderate-to-severe, sight-threatening and sometimes even mild GO have significant negative impact on patient’s quality of life (QoL). Various clinical presentations of GD itself, evaluation and timely managemen...

IntroductionRecently, apart from its main physiologic role, the active form of vitamin D has also been recognised to have anti-inflammatory and immune-modulating properties. Accumulating evidence suggests that Vitamin D deficiency is associated with increased prevalence of various autoimmune diseases, and in particular, with autoimmune thyroid disease. Despite contradicting evidence, the balance is tipping towards inverse correlation between vitamin D de...

Background: Hypophysitis is a rare inflammatory condition of the pituitary gland, speculated to have autoimmune aetiology. The diverse clinical presentations rely on hormonal deficiencies and the pathophysiological impact on the target organs. This condition may give rise to life-threatening complications. MRI is the best imaging modality for diagnosis and the conclusive diagnosis necessitates a biopsy of the affected tissue. The optimal management approach remains a subject o...

Introduction: Polycystic ovary syndrome (PCOS) affects 10-15% of women worldwide, depending on the population and the diagnostic criteria used. The diagnostic criteria include clinical and/or biochemical hyperandrogenism, oligo/anovulation, and polycystic morphologic appearance of the ovaries. PCOS is associated with high risk of obesity, diabetes, cardiovascular diseases, and a wide spectrum of mental health disorders. Despite international recommendations, there is still lac...