Endocrine Abstracts

Introduction: Primary hyperparathyroidism (PHPT) is a common endocrine disorder. However, a familial hyperparathyroid syndrome is diagnosed in less than 5% of cases. We present two related cases of CDC73-related familial hyperparathyroidism due to a rarely described germline Leu63Pro missense mutation in CDC73 exon 2.Case report: The index patient, a 24-year-old female, presented acutely unwell with symptoms of hypercalcaemia. Her blood...

A 21-year-old man presented with 2 months history of weight gain, acne, hirsutism, lethargy, and muscle weakness. Examination revealed that he was cushingoid in appearance, had pustular acne and proximal myopathy. Initial 24 h urinary free cortisol was significantly raised at 5320 nmol/day (10–147), with raised ACTH of 120 ng/l (<47). He failed to suppress his cortisol on the low dose dexamethasone suppression test (baseline 708 nmol/l and 48 h 706 nmol/l). Urinary an...

A nineteen year old man was admitted by his GP with profound weight loss. He had avoided contact with primary care services as he feared doctors, but had been referred to an eating disorders clinic. He had a diet of exclusively snack food and had been losing weight for two years.On examination he was cachectic and pale with scanty body hair. His body mass index was 13 kg/m2, with a weight of 44 kg. He was clinically thyrotoxic, a small diffuse...

In our institution, an observed loading dose of oral colecalciferol (D3) 300 000 units is used for treatment of vitamin D deficiency (Vit D <30 nmol/l), with subsequent re-evaluation at 6 weeks and 3 months. We evaluated the follow-up of all the patients who received loading dose colecalciferol against adherence to this protocol.Method: All patients who received observed loading dose of colecalciferol for a 1-year period were included. Demographic, c...

Background: Growth hormone (GH) and Insulin like growth factor 1 (IGF-1) discordance in patients with acromegaly is a well-recognised phenomenon. It is unclear whether this is associated with increased mortality and morbidity compared to patients with concordant normal results.Methodology: A retrospective study was conducted on the United Kingdom Acromegaly Registry (UKAR). A comparison of mortality and morbidity was performed among four groups categoris...

Background: Non-functioning pituitary adenomas (NFPA) account for 30-35% of pituitary adenomas. They can lead to hypopituitarism and visual field defects. Trans-sphenoidal resection of pituitary adenoma remains the treatment of choice.Methods: We compared clinical, biochemical, and imaging characteristics of NFPAs at presentation with post-surgical outcomes in a retrospective cohort study. Patients who underwent end...

Background: Non-functioning pituitary adenomas (NFPA) account for 30-35% of pituitary adenomas. They can lead to hypopituitarism and visual field defects. Trans-sphenoidal resection of pituitary adenoma remains the treatment of choice.Methods: We compared clinical, biochemical, and imaging characteristics of NFPAs at presentation with post-surgical outcomes in a retrospective cohort study. Patients who underwent end...

Introduction: Radiotherapy (RT) can achieve tumour control rates of over 90% in patients with pituitary adenomas. The commonest toxicity of irradiation is hypopituitarism. The exact incidence is variable and requires long-term intermittent testing for deficiency of all hypothalamic−pituitary axes (HPA). The aim of this study is to determine the time to onset of individual hormonal deficiencies and establish a time frame for endocrine testing during follow-up post-RT....