Endocrine Abstracts

Introduction: Patients with adrenal insufficiency (AI) lack endogenous cortisol and require oral hydrocortisone. In primary AI (PAI) endogenous aldosterone synthesis is also lost and patients require oral fludrocortisone. Important long-term issues include wearing MedicAlert jewellery (MAJ) and adequacy of steroid replacement including fludrocortisone, assessed by plasma–renin activity (PRA).We identified patients with AI attending our unit and aime...

Introduction: Glucagonoma syndrome is a rare paraneoplastic phenomenon characterised by necrolytic migratory erythema, diabetes mellitus and symptoms of gastrointestinal upset. It is often diagnosed late leading to a poor prognosis.Case report: A 70 year old lady with type two diabetes mellitus and fibromyalgia presented in late 2011 to Gynaecology with an itchy erythematous vulval rash. Skin biopsy suggested lichen sclerosis and she was discharged with ...

The recently published Endocrine Society Clinical Practice guideline on phaeochomocytoma and paraganglioma (PPGL) recommends measuring plasma metanephrines (PMets) with patients in the supine position after an overnight fast and using appropriately defined reference intervals.1 Studies have shown higher diagnostic sensitivities using the latter pretesting criteria.2 However, this testing protocol is resource intensive and arguably impractical in routine c...

Primary hyperaldosteronism (PHA) prevails in up to 20% of individuals with essential hypertension, but often presents a diagnostic challenge due to difficulty in interpreting the aldosterone renin ratio (ARR) largely due to anti-hypertensive medication interference. Interpretation of the ARR in the context of beta blockers presents a particular challenge and may produce false positive results due to renin suppression. We investigated the effects of beta blocker withdrawal on A...

Sex steroid hormones play a pleomorphic role in preservation of BMD. The BMD, the blood circulating 25-hydroxyvitamin D [25(OH)D], testosterone and estradiol levels may decline with age and to contribute to bone fragility. Low vitamin D is associated with increased falls number and fractures.Recently, a new software solution, 3D-SHAPER - allows measurements of both trabecular and cortical bone as well as 3D images -, it incorporates a model-bas...

Introduction: The XXYY Syndromeis an extremely rare sex chromosomal disorder characterized by the presence of extra X and Y chromosomes, and clinically by tall stature, dysfunctional testes associated with infertility and hypogonadism, cognitive, affective and social functioning impairments, global developmental delay, and an increased risk of congenital malformations.Case report: A 46-year-old man was referred to theFracture Osteoporosis OutpatientClini...

Background: Parathyroid carcinoma accounts for <1% of cases of primary hyperparathyroidism. Clinical presentation is usually related to severe hypercalcemia associated to elevated serum PTH (three times above the upper limit). These values are so much higher than in primary hyperparathyroidism due to a benign adenoma. Moreover, 30–75% of patients had a palpable neck mass.Clinical case: Fifty one-year-old male, submitted to bariatric surgery by a...

Introduction: Type 1 gastric endocrine tumors (T1-GET) incidence is increasing world while mainly due to widespread use of upper endoscopy. Autoimmune disease (AID) is the hallmark of T1-GET, pernicious anemia is often found at presentation. Association with lymphocytic thyroiditis (LT) has been described.Aims: Retrospective evaluation of GET data from patients (pts) followed at IPO-Porto, including the presence of other AID with emphasis to LT.<p cl...

Introduction: Generously supported by IPSEN)-->PROP1 (Prophet of Pit-1) mutations are the most frequent genetic cause of panhypopituitarism, a condition associated with a deficiency or inadequate production of hormones of the anterior pituitary. The PROP1 gene encodes a transcription factor involved in the ontogeny, differentiation and function of somatotrophs, lactotrophs and thyrotrophs. These mutations are characterized by a remar...

Background: Raised prolactin is a frequent reason for referral to endocrine clinics. Prolactinomas are the most common functioning pituitary tumours. Medical management with dopamine agonists remains the treatment of choice. MHRA advises baseline echocardiograms within 3–6 months and then 6–12 monthly in patients taking dopamine agonists due to a potential risk of cardiac valvular fibrosis though the evidence for fibrosis at endocrine doses remains limited. Aim: The ...