Endocrine Abstracts

Allan-Herndon-Dudley syndrome (AHDS) is a genetic disorder characterized by intellectual disability and movement disorders. AHDS patients have mutations in the monocarboxylate transporter 8 (MCT8) that impedes thyroid hormone (TH) transport to the brain during crucial phases of brain development. In mice, the resulting structural and functional pathologies of human AHDS patients can be mimicked by knocking out murine MCT8 and the Solute Carrier Organic Anion Transporter Family...

Anna Spada is currently Full Professor at the School of Medice, University of Milan. Her main research interests are on signal transduction in pituitary cells, pathogenesis of pituitary tumors, genotype/phenotype relationships in acromegalic patients with gsp mutations, tissue specific GNAS1 gene imprinting, molecular mechanisms of resistance to hormone action, activating and inactivating mutations of GNAS1 in endocrine disorders, polymorphic variants of somatostatin receptor ...

A 65-year-old gentleman was referred by his GP because of acute kidney injury and hypercalcaemia, which was associated with low levels of parathyroid hormone. He had been fit and well and was on no regular medications. Whilst his hypercalcaemia was partly correctible with saline rehydration, cautious use of bisphosphonates and cinacalcet were not effective in preventing rebound, and his nephropathy persisted. Curiously, he had longstanding low plasma alkaline phosphatase, but had normal denti...

Background: Radioiodine is an effective treatment for Graves’ hyperthyroidism. In most cases this therapy renders the patient completely hypothyroid. As a consequence they will require lifelong thyroid replacement therapy. Now it is controversial whether radioiodine should be given in a sufficient dose to induce hypothyroidism or a lower dose in an attempt to achieve a euthyroid state. Case Report: A 71-year-old woman with a 30 years history of Grav...

Steroid-dependent individuals, in particular those with primary adrenal insufficiency, are a vulnerable patient group. They are prone to acute adrenal crisis which is a life-threatening medical emergency requiring immediate recognition and treatment. Among individuals with primary adrenal insufficiency, acute adrenal crisis has a frequency of 6–8 per 100 patient-years. Unfortunately, delays in diagnosis and management are common, constituting an avoidable source of patien...

Incidentally discovered adrenal nodules are an increasingly common reason for referral into the endocrine clinic. Assessment includes a hormonal work-up to look for endocrine function, and reviewing the size and radiological characteristics of the lesion. Some nodules have benign radiological features (less than 10 HU on an unenhanced CT scan), whilst others are radiologically indeterminate (more than 10 HU). We worry about missing a malignant process. The research data and in...

Steroid-dependent individuals, in particular those with primary adrenal insufficiency, are a vulnerable patient group. They are prone to acute adrenal crisis which is a life-threatening medical emergency requiring immediate recognition and treatment. Among individuals with primary adrenal insufficiency, acute adrenal crisis has a frequency of 6–8 per 100 patient-years. Unfortunately, delays in diagnosis and management are common, constituting an avoidable source of patien...

Incidentally discovered adrenal nodules are an increasingly common reason for referral into the endocrine clinic. Assessment includes a hormonal work-up to look for endocrine function, and reviewing the size and radiological characteristics of the lesion. Some nodules have benign radiological features (less than 10 HU on an unenhanced CT scan), whilst others are radiologically indeterminate (more than 10 HU). We worry about missing a malignant process. The research data and in...

Presenting the complex journey of a 36 year old lady who following over 2 years of symptoms was found to have raised IGF1 and prolactin. She had microscopic transsphenoidal resection of pituitary adenoma. This was followed by different medical therapies and Gamma knife radiotherapy. She was also referred to many other specialists for Acromegaly related conditions and surveillance. The pathway to diagnosis can be full of barriers and may take many years for a patient to travel ...

‘Functional’ hypothalamic amenorrhoea (FHA) is a common cause of secondary amenorrhoea. A focused history should include a full menstrual history (including hormonal contraception); diet, weight and exercise (including any eating disorder); any significant stressors; the woman’s current situation in relation to contraception and fertility plans; a personal or family history of a lack of sense of smell (suggesting Kallmann syndrome); and any family history of del...