Endocrine Abstracts

Objective: We aimed to identify the genetic defect in patients labelled as sporadic and idiopathic hypoparathyroidism (HP) by using whole-exome sequencing (WES).Methods: Patients with sporadic nonsurgical HP, aged <30 years were recruited. Those with a known genetic or autoimmune aetiology were excluded from the study. Thirty such patients were screened for antibodies against interferon-α, a highly sensitive and specific marker of autoimmune pol...

Introduction: Whether patients with non-surgical hypoparathyroidism have skeletal muscle dysfunction is not studied. It is also not known if skeletal muscle dysfunction involves respiratory muscles and results in a restrictive lung disease (RLD).Aim: To assess skeletal muscle and pulmonary function in patients with non-surgical hypoparathyroidism, who were asymptomatic for overt muscle and lung diseases.Methods: Thirty patients wit...

An 88-year old female was referred to the Endocrine clinic for abnormal thyroid function tests. She had been complaining of intermittent palpitations, being generally unwell, with low mood and some degree of weight loss (3 kg within the last 6 months). Her past medical history includes: osteoporosis, atrial fibrillation, poor mobility and falls. There is no family history of thyroid disease. She is currently on Duloxetine, AdCal-D3 and Alendronic acid. On examination, her hear...

Unfortunate consequences may result from an incompatible combination of medical illnesses.A 17 year old girl was investigated for recurrent neutropenia, incidentally detected during a bout of tonsillitis. Coincidently she presented to us with generalised malaise, dizziness and vomiting without any other symptoms. Physical examination revealed scar pigmentation. Systemic examination was unremarkable.Biochemistry revealed hyponatraem...

Background: Chronic SIAD with its disabling impact is challenging to manage in elderly patients as fluid restriction or demeclocycline often has a limited success. Tolvaptan is a novel selective antagonist of vasopressin receptor (V2R) which is safely used in patients with SIAD and other conditions with hypervolemia. We report a case of longest Tolvaptan use with significant challenges amongst our case series which we had previously publishedMethod: A Ca...

A 52-year-old patient with a history of secondary progressive multiple sclerosis was referred to our endocrine vetting service with deranged thyroid function tests (TFTs). Medicines reconciliation demonstrated that the patient was currently on regular fampridine and carbamazepine only. TFTs checked in the community revealed a free T4 of 65.8pmol/l (12.0-22.0pmol/l) with a TSH of 2.03mU/l (0.27-4.20mU/l) and a free T3 of 5pmol/l (3.1-6.8pmol/l). 25-OH vitamin D and vitamin B12 ...

Aim: To determine patient outcomes following radioactive iodine (I131) therapy in a UK district general hospital for the treatment of benign thyroid disease.Methods: A record of all patients at University Hospital Hairmyres (Scotland, UK) undergoing radioactive iodine therapy for benign thyroid disease was kept. Patients were identified using a unique community health index (CHI) number. A retrospective case note review was then carried out fo...

Objective: Most hypothyroid patients require an optimal dose of 1.6–1.8 μg/body weight (kg) of L-thyroxine to restore a normal TSH. Poor response to treatment can be due to malabsorption, drugs interaction and poor compliance. We conducted a test to determine the likely cause of persistent hypothyroidism in a coeliac patient despite taking supraphysiological doses of L-thyroxine (>1000 μg OD).Case...

Introduction: Diseases of the hypothalamus/pituitary are complex and can be difficult to diagnose. Diagnostic possibilities are many and include sphenoid ridge meningiomas and aneurysms of the internal carotid artery as well as craniopharyngiomas, gliomas of the optic nerve, inflammatory and granulomatous disease.Case report: We present two cases to illustrate the complex differential diagnosis.The first patient presented with head...

Background: Differentiated thyroid cancers are reported to present with synchronous distant metastases in 1–9% of cases. The most common single sites of synchronous metastases are lung (45%) and bone (39%) with dual site involvement (12%). Other single sites of metastases are rare (4%). Pleural metastases are very unusual, accounting for < 0.6% of cases.Case: A 55-year-old male smoker presented with cough, weight loss and thoracic back pain. Exa...