Endocrine Abstracts

Discordant thyroid function is common; differential diagnosis includes assay interference, familial dysalbuminaemic hyperthyroxinaemia, thyroid hormone resistance (RTH) and TSHoma. We present four TSHomas, demonstrating the diversity of clinical course. All had assay interference and RTH excluded. Case 1: A 64-year-old lady with thyrotoxic symptoms and no family history. TSH 6.36 mU/l, with fT4 32.6 pmol/l and raised SHBG. Pituitary MRI showed a 7 mM lesion. She was unresponsi...

A 17 year old woman attended the Emergency Department following an episode of chest pain and pre-syncope, coinciding with high blood pressure readings taken at home. Her blood pressure was recorded as 170/101 with no signs of end organ damage on clinical examination. She had no clinical features of Cushing’s disease or Neurofibromatosis and her BMI was 22.4. She had been seen at a Cardiology clinic 18 months previously for hypertension and chest pains. A 24 hour blood pre...

Resistance to thyroid hormone (THR) is a rare genetic condition affecting the nuclear thyroid hormone receptor, and inherited in a dominant negative pattern. It is often diagnosed in patients with discordant thyroid function. Patients have a ‘pituitary resistance’ to the elevated circulating levels of thyroid hormone, resulting in the failure of TSH suppression. While this consequent TSH drive has been associated with follicular thyroid cancer, it is thought that coe...

Section 1: Case history: A 60-year-old woman was transferred to the receiving hospital after thrombolysis for a left-sided total anterior circulation stroke. Her past medical history was significant for alcohol dependence (70 units/week), atrial fibrillation (not anticoagulated but rate controlled with propranolol), seizures and severe mitral regurgitation. This lady underwent a successful thrombectomy, but subsequently developed haemorrhagic transformation and hydrocephalus. ...

Case historyA 23-year-old woman with no significant past medical history and normal renal function was incidentally found to be hypercalcaemic in 2003. Following investigation, she was diagnosed with primary hyperparathyroidism. She underwent three-gland parathyroidectomy; histology demonstrated hyperplasia. Her bone function remained normal, but 4 years later she was found to have normocalcaemic hyperparathyroidism. Sestamibi demonstrated uptake inferio...

Section 1: Case history: This 41 year old lady was seen in the Endocrine clinic with an 8 year history of worsening hypertension, obesity and Type 2 diabetes. She had no conditions known to cause physiological hypercortisolism, no exogenous steroid use and had clear physical features of Cushing’s syndrome.Section 2: Investigations: Investigations confirmed Cushing’s syndrome with two elevated urinary free cortisol assessments (UFC) (934 and 906...

Heterozygous mutations in GNAS1, which encodes the Gαs protein involved in multiple signalling pathways, are classically associated with Albright’s Hereditary Osteodystrophy (AHO). GNAS1 is one of few genetic loci that undergo allelic-specific methylation resulting in the parent-specific expression of at least four different transcripts. The classic constellation of phenotypic features includes short stature, round face, brachydactyly, obesity, dental hypopl...

Case history: We present a 71 year old man, with a 3 year history of problematic hypertension (BP exceeding 190/100 on treatment), incidentally found to be hypokalaemic (K 1.8 mmol/l) during investigations for leg weakness. He had no clinical features to suggest an endocrinopathy. Investigations at his local centre revealed hypokalaemia dating back over 3 years.Investigations: Biochemistry:Na 142 mmol/l (135–145 mmol/l)<p ...

Ectopic Cushing’s syndrome (CS) is commonly caused by malignancy, often behaves aggressively and may not clinically manifest with features of hypercortisolism due to its rapid course and associated cachexia. This may mislead clinicians into discounting the diagnosis in patients with more indolent features of CS. We present a 41 year old woman with an 8 year history of Cushingoid features with associated hypertension, obesity and Type 2 Diabetes. Investigations confirmed C...

Background: Hyperthyroxinaemia with non-suppressed TSH, due to resistance to thyroid hormone (RTH) or TSH-secreting pituitary tumour (TSHoma), can be difficult to diagnose, particularly with coincident autoimmune thyroid disease (AITD).Methods: To determine presentation patterns of AITD coincident with RTH or TSHoma, we analysed our cohort of cases with dual diagnoses.Results: Nine patients with RTH had AITD. Six had Graves’ d...