Endocrine Abstracts

Introduction: Primary bilateral macronodular adrenal hyperplasia (PBMAH) is a highly heterogeneous disorder and is the cause of <2% of cases of Cushing’s syndrome. Around 20-25% of patients with primary bilateral macronodular adrenal hyperplasia (PBMAH) have a mutation in ARMC5.Case report: 47 year old gentleman was incidentally found to have bilateral adrenal lesions when he had a CT scan of his chest performed for chest and back pains. He had ...

Introduction: Genetic projects, such as 100KGenomes, are identifying a vast amount of genetic variants that require interpretation. Several variants lack sufficient evidence to be classified as neutral or damaging. Such variants are annotated as ‘unclassified’ and interpretation of their biological effect is of paramount importance, but remains a major challenge. Variant predictors are widely used to prioritize variants for further studies...

Introduction: The Oxford multidisciplinary thyroid eye disease (TED) clinic comprising an oculoplastic surgeon, rheumatologist and endocrinologist with access to orthoptics, neuroradiology and radiotherapy was established in 2013. The aim of the service is to facilitate rapid referral and treatment in a specialist centre in keeping with the Amsterdam Declaration. Early use of steroid sparing agents (SSA) and recently rituximab form part of the treatment regimen.<...

Introduction: Genetic projects, such as 100KGenomes, are identifying a vast amount of genetic variants that require interpretation. Several variants lack sufficient evidence to be classified as neutral or damaging. Such variants are annotated as ‘unclassified’ and interpretation of their biological effect is of paramount importance, but remains a major challenge. Variant predictors are widely used to prioritize variants for further studies...

Introduction: The Oxford multidisciplinary thyroid eye disease (TED) clinic comprising an oculoplastic surgeon, rheumatologist and endocrinologist with access to orthoptics, neuroradiology and radiotherapy was established in 2013. The aim of the service is to facilitate rapid referral and treatment in a specialist centre in keeping with the Amsterdam Declaration. Early use of steroid sparing agents (SSA) and recently rituximab form part of the treatment regimen.<...

Case history: A 39 year old lady was referred to endocrinology with hirsutism. In the clinic, the pattern of hair growth was confirmed as androgenic, she had cliteromegaly and family members had commented on her voice deepening. She underwent menarche at 13 years old, has menorrhagia and has had hirsutism her entire adult life that had recently worsened. Her biochemistry confirmed hyperandrogenism with non-suppressed LH/FSH. At her second appointment after serious pathology ha...

Background: The 1 mg overnight dexamethasone suppression test (ONDST) is recommended as a first-line test for the investigation of Cushing Syndrome. Measurement of dexamethasone alongside cortisol in a 9am serum sample has been credited with improving diagnostic sensitivity of the test. Previous studies have also looked at the utility of salivary dexamethasone and have observed poor correlation with serum dexamethasone. Herein we introduce the concept of measuring 11-dehydrode...

Endocrinologists focus on circulating and excreted cortisol for diagnosis of, and to assess severity and treatment response in, Cushing’s syndrome (Cs). However, in Cs, morbidity is mediated by excess cortisol binding to intracellular glucocorticoid (GC), mineralocorticoid (MC), and non-genomic receptors. We and others have demonstrated that 11b-hydroxysteroid dehydrogenase type 1 (HSD-1) is the source of about half of intrahepatocellular cortisol in healthy adults, patie...

A 41 year-old gentleman, known case of type 2 diabetes, presented to the emergency department after a witnessed episode of jaw clenching followed by unresponsiveness. The patient was amnesic to the event. He was noted to have a lateral tongue bite. He also reported a similar episode 8 months previously. Initial blood investigations including a random blood glucose were normal. A sulphonylurea induced hypoglycaemia was excluded. Brain imaging by means of a Computed Tomography (...

A 41 year old female, followed up closely by cardiology in view of grown up congenital heart disease secondary to tricuspid atresia, pulmonary stenosis and atrial septal defect in infacy, and brittle paroxysmal atrial fibrillation (AF) was noted to be progressively lethargic and anorexic. She also developed bilateral lower limb oedema and was admitted for further investigation of decompensated congestive heart failure (CHF). Overt thyrotoxicosis was found on investigation. Sin...