Endocrine Abstracts

Introduction: The hyperparathyroidism-jaw tumour syndrome is a rare autosomal, dominantly inherited disorder characterized by neoplastic or cystic lesions in parathyroid gland, jaws and the kidneys. With approximately 200 reported cases in literature this condition remains a challenge both diagnostically and in guiding further management.Case report: Seventeen year old scholar was seen by the maxillofacial department at Medway Hospital with 2 painless sw...

Introduction: In children with PWS, dysfunction of HPA axis may contribute to the high incidence of sudden death. The prevalence and the extent of the dysfunction of HPA axis remain unclear.Methods: 18 (4M/14F) children with PWS, with a median age of 2.51 years (0.6,9.9), underwent insulin tolerance test (11/18, median age 3.8 years (2.1,9.9)) or glucagon stimulation test (7/18, median age 1.8 years (0.6,2.4)) as part of their assessment before commencin...

Introduction: Two childhood cases of somatotroph pituitary adenomas caused by aryl hydrocarbon receptor interacting protein (AIP) mutations highlight the importance of screening for familial isolated pituitary adenoma (FIPA) genes and wider family implications.Case 1: A 13.5-year-old girl presented with 5 years growth acceleration and size ten feet, with no headache or visual disturbance. Examination: coarse facial features, large hands and feet...

Introduction: Cushing’s syndrome (CS) is a rare disease that can be difficult to diagnose. 24 hour urinary free cortisol (UFC) is one of the reliable screening tests to diagnose CS. The Endocrine Society recommends against widespread screening for CS. It advises to screen those patients presenting with multiple and progressive features (easy bruising, facial plethora, proximal myopathy and striae) of CS, in addition to patients who experience unusual features for their ag...

Introduction: Gynaecomastia, a benign enlargement of glandular breast tissue in males, may be associated with anxiety, depression and reduced self-esteem.Aims: To assess current practice in management and treatment outcomes in the management of gynaecomastia with a view to improving quality of service and rationalising investigations and referral pathway.Methods: A health informatics search identified 42 patients with documented gy...

Background: Hyponatremia is a rare complication of pre eclampsia. We present a case of syndrome of inappropriate ADH secretion (SIADH) in the setting of pre eclampsia.Case Report: A 40 year old lady known to have type 1 diabetes on insulin pump therapy presented with hypertension at 33 weeks gestation. Treatment with labetalol 100 mg bd was initiated but she was admitted at 34 weeks due to lack of BP control. Sodium levels were 136 mmol/L (135–145 m...

A 19-year-old male referred from the Ophthalmology clinic on account of staring gaze of 1 year, and an anterior neck swelling which was noticed 3 months before presentation. Anterior neck progressively increased in size. It was not painful. No history of dysphagia, voice changes or yellowness of the eyes. There was positive history of heat intolerance, weight loss despite increased appetite, irritability, restlessness, palpitations and hyperdefeacation. No history of exposure ...

Background: Gaining a correct genetic diagnosis for patients with adrenal insufficiency is important not only to enable genetic counselling within their families, but also for correct treatment and long term management. Adrenal insufficiency is genetically heterogeneous and the long-term sequelae for many of the gene defects, including the progression of the disease and involvement of other tissues, is unknown. Next-generation sequencing (NGS) technologies allow parallel seque...

The epidemiology of hyperprolactinaemia is not well characterised in the literature. Using unique patient identifier we were able to link data from biochemistry, prescribing, hospital admissions, radiology, general registry office and maternity data. Observational data was collected for Tayside Scotland between 1993 and 2013. Any patient with a serum prolactin measurement >1000 mU/l or at least three prescriptions for a dopamine agonist were included. Patients who were pre...

Pituicytomas are rare tumours, originating from modified glial cells called pituicytes. The lineage of these tumours remains a topic of debate. Approximately 65 cases have been reported in the literature to date, since being formally recognised in 2007. We report a case where the final diagnosis was made after second surgery for late recurrence.Case: A 54-year-old man presented with left sided visual disturbances in 1998 and underwent transcranial resect...