Endocrine Abstracts

Case history: We report an interesting case of a rare cause of hypopituitarism where our patient presented to the hospital with acute onset headache, vomiting, and feeling generally unwell. Investigations/Results: On routine bloods, he was found to have hyponatremia. On further workup of hyponatremia, he had low morning cortisol which was confirmed as secondary adrenal insufficiency on dynamic function testing. He was also deficient in gonadotrophins alo...

Section 1: Case history: A 66-year-old man, with a history of hypertension controlled on 3 anti-hypertensives and diet-controlled Type 2 Diabetes, presented to a community-based musculoskeletal clinic to have an intra-articular Triamcinolone injection for a frozen shoulder. 30 min after the injection, he developed dyspnoea, widespread urticaria and facial angioedema. He was initially treated for suspected anaphylaxis with adrenaline, antihistamine and Hydrocortisone at the GP ...

Introduction: Hypercalcaemia is a commonly encountered biochemical abnormality. The most common causes of hypercalcaemia are primary hyperparathyroidism and malignancy. Familial Hypocalciuric Hypercalcaemia (FHH) is a rare cause of hypercalcaemia.Case: We present a 53-year-old female, who was referred to the endocrinology clinic for further investigation of a persistent hypercalcaemia associated with low-to-normal parathyroid hormone level (1.5pmol/l). S...

BackgroundAdrenal leiomyoma is a rare benign soft tissue tumor, it is even more unusual if presenting bilaterally; 21 cases have been reported in the literature and only six had bilateral involvement; 5 in the pediatric population and only one in an adult patient. Radiological appearance may frequently be confused with malignancy especially if large, calcified and with central necrosis. We report a rare case of bilateral, large, calcified, non-functionin...

Aims: Epidemiological studies have demonstrated that Indian babies born to mothers with gestational diabetes mellitus (GDM) have adverse metabolic profiles. The anthropometric and metabolic profiles in children of women with and without GDM were compared at age 5 years.Methods: Children born to mothers with GDM (CGDM) and without GDM (WGDM) were included in this prospective study. We examined maternal gestational BMI, GD...

Introduction: Kabuki syndrome (KS) is a rare congenital, multisystemic disorder caused by pathogenic variants of KMT2D or KDM6A genes, causing autosomal dominant KS type 1 (more than 80%) and X-linked KS type 2 respectively. The phenotype spectrum is highly variable, consisting of a mixture of any of the five cardinal features (facial dysmorphic features, skeletal defects, dermatoglyphic abnormalities, various degrees of intellectual and growth retardation) with structural dis...

Background/objectives: Kabuki Syndrome 1 (KS1) is a neurodevelopmental disorder caused by loss-of-function of histone 3 lysine 4 mono-methyltransferase KMT2D. In addition, to neurodevelopmental features, some Kabuki Syndrome patients also exhibit endocrine-related phenotypes, such as hypoglycaemia. KMT2D is involved in global gene regulation, therefore, it is important to have a systems-based approach to understand pathomechanisms of KS1.<p class="abstext"...

Hyperinsulinism causes recurrent and severe hypoglycaemia in the newborn, infancy and childhood period. Although the condition is more common in the newborn period it can present even adults can present with late onset hyperinsulinaemic hypoglycaemia not due to an insulinoma (noninsulinoma pancreatogenous hypoglycemia). Hyperinsulinaemic hypoglycaemia encompasses a heterogeneous group of disorders with respect to clinical presentation, pancreatic histology and molecular biolog...

Background: The National Institute of Clinical Excellence (NICE) published guidelines in May 2002 on the use of GH in children, recommending GH in 4 conditions: GH deficiency (GHD), Turner Syndrome, Prader-Willi Syndrome and chronic renal insufficiency.Aim: To audit whether GH prescribing at our hospital adheres to NICE guidelines.Methods: A retrospective audit was performed of children commenced on GH treatment between May 2002 an...