Endocrine Abstracts

Introduction: PTEN Hamartoma Tumor Syndrome (PHTS)is a rare genetic spectrum of disorders characterised by multiple hamartomas and increased risk of cancers including thyroid cancer. People with PHTS have an increased lifetime risk of differentiated thyroid carcinoma (DTC), estimated to be about 35% compared to the general population risk of below 1% (1). Case Presentation: We report a 38-year-old male who presented with a Goitre found on routine examina...

Introduction: Pseudohypoparathyroidism (PHP) is a rare cause of hypocalcaemia due to parathyroid hormone (PTH) resistance in the proximal renal tubules. In contrast to PHP type 1A, PHP type 1B is characterised by the absence of the characteristic skeletal abnormalities and is transmitted in an autosomal dominant manner, but in the maternal line. Patients may have resistance to the action of other G-protein signaling hormones, like thyroid stimulating hormone (TSH).<p class...

Background: Pituitary abscess is rare but a serious intrasellar infection. It should be considered in the differential diagnosis of the sellar masses due to its high morbidity and mortality rates. Despite recent advances in radiological investigations, it remains a challenge to make a definitive diagnosis preoperatively [1]. We present a case of pituitary abscess who presented with pan hypopituitarism and central diabetes insipidus.Case presen...

Case History: Hyperandrogenism is a relatively common clinical problem. However, severe hyperandrogenism causing virilisation is rare. A 22-year-old lady with no significant past medical history, presented with oligomenorrhoea, hirsutism and male pattern hair loss over last 3 years duration. She has no acne or change in voice or clitoromegaly. She was also noted to be having high BP on clinic visit and grade 1 acanthosis nigricans.Investigations: Her tot...

Case History: An 81-year-old gentleman was brought to A&E by ambulance after being found to be hypoglycaemic at home by paramedics. His wife reported that he experienced unsteadiness and slurred speech after waking up in the morning and she called the emergency number. On arrival of paramedics, his capillary blood glucose was found to be 1.2 mmol/l and he was administered intravenous dextrose. He also had a couple of similar episodes which were resolved with food. He is no...

Introduction: Gastric bypass surgery is performed for intractable severe reflux oesophagitis not amenable to vagotomy and pyloroplasty. Long-term complications include dumping syndrome, nutritional deficiencies, incisional hernia and weight loss. We report a case of unexplained adrenal insufficiency in a patient who had gastric bypass surgery.Case: A 77-year-old gentleman presented with a history of recurrent hypoglycaemic episodes. Hypoglycaemic symptom...

Introduction: Sarcoidosis is a multisystem granulomatous disorder. It commonly causes mild hypercalcemia in up to 10–20% of the cases and renal involvement can be a feature. Presentation with severe symptomatic hypercalcaemia (>3.5 mmol/l) and acute kidney injury is rare. We present an interesting case.Case: A 58 year old female was referred to the emergency department by her general practitioner with a one month history of polyuria, generalised wea...

Introduction: Hyponatraemia following surgery is usually due to a mismatch between fluid input and output peri- and post-operatively. Syndrome of inappropriate antidiuretic hormone secretion (SIADH) is another important cause of hyponatraemia, commonest cause being medications, and intrathoracic and intracranial infections and neoplasia. SIADH has been reported to occur after pituitary surgery but rarely after other types of surgery. We present a severe case of SIADH-related h...

Introduction: Idiopathic hypogonadotrophic hypogonadism (IHH) with normal sense of smell is a complex and rare disease entity characterised by insufficient gonadotropin releasing hormone (GnRH) neuronal action on an intact hypothalamo–pituitary–gonadal axis. IHH has an incidence of 1–10 in 100 000 live births with a variable mode of inheritance and five-fold male predominance. Gene mutations have been discovered of which 10–40% of the familial cases are due...

A 19 year old Bangladeshi male attended ED with a fractured finger. He was noted to have a severely delayed bone age of 13.5 years, and no facial hair. He had moved to the UK aged 11 and could recall little information regarding his childhood or his parents. He had no significant medical co-morbidities, and in particular no history of mumps, measles or testicular injury. He reported being the shortest in his class, and being unable to keep up with his classmates in physical ac...