Endocrine Abstracts

Case History: A 69-year-old gentleman was admitted having lost consciousness. This episode was preceded by typical hypoglycaemic symptoms which, in retrospect, he had experienced for four decades with increasing frequency and severity over the past year. He was hypertensive. There was no family history of endocrinopathy or diabetes.Investigations: A supervised inpatient fast was undertaken along with cross-sectional and radio-isotope imaging.<p class...

Case history: A 63-year-old female presented with bi-temporal hemianopia. Pituitary MRI demonstrated a macroadenoma with suprasellar extension. Her medical history included a glomus tumour of the right ear treated with external beam radiotherapy (EBRT) 25 years previously. She had no evidence of pituitary hormone abnormality and had normal urinary metanephrines levels. She underwent transsphenoidal surgery with total resection and full recovery of her visual fields. Immunohist...

Case history: A clinically euthyroid 7-year-old boy was noted to have a persistently elevated TSH 7.35–14 mU/l (NR 0.27–4.2) and normal FT4 15.0 pmol/l (NR 10-24) with negative anti-thyroid peroxidase antibodies. Thyroid ultrasonography revealed a eutopically-located thyroid gland of normal size. Following commencement of levothyroxine, he developed insomnia, irritability and headaches, resulting in cessation of treatment. Growth and development proceeded ...

Case History: A 69-year-old lady was admitted to her local district general hospital with a history of confusion, memory disturbance and focal twitching affecting her upper limbs and face. She had a past medical history of type 2 diabetes mellitus, hypertension, hypercholesterolaemia and ischaemic heart disease. Her medications included gliclazide, pioglitazone, atorvastatin, bisoprolol, aspirin and omeprazole. She had never smoked and was teetotal. Neurological examination on...

The calcium-sensing receptor (CaSR) is a G-protein coupled receptor expressed in the parathyroid gland and kidneys. Loss of function mutations of the CaSR result in familial hypocalciuric hypercalcaemia (FHH). Rarer, gain of function mutations of the CaSR result in hypercalciuric hypocalcaemia and are inherited in an autosomal dominant pattern. The phenotype varies from asymptomatic individuals, to profound hypocalcaemia. We present a severely affected individual whose case hi...

Case history: An 18-year-old Caucasian female presented with primary amenorrhoea after her younger sister aged 16 years old started menstruating. She had a normal childhood and progressed through puberty normally, with no past medical history or family history. BMI was 22.6 with a normal examination including secondary sexual characteristics (Tanner Stage 5) and no signs of hyperandrogenism.Investigations and Results: Bloods showed an elevated LH:FSH rat...

A 26-year-old Caucasian male presented to the joint infertility outpatients clinic with primary infertility. His medical history included hypertrophic cardiomyopathy (HCM) due to genetically confirmed MYH7 sarcomere protein mutation, treated with implantable cardioverter-defibrillator while his partner was a healthy 24-year-old Caucasian nulliparous female. Initial investigations showed hypertestosteronemia (Testosterone: >51.0 nmol/l) and azoospermia, hence the c...

Case history: We report a 56-year-old man who was referred to the Endocrinology Clinic with hypokalaemic hypertension. He had a history of bladder cancer 9-years previously, treated with surgery, chemotherapy and BCG therapy. At referral, he was taking Amlodipine 10 mg and Doxazosin 8 mg twice daily with average home blood pressure readings of 160/90 mmHg.Investigations: Aldosterone to renin ratio (ARR), taken on Doxazosin with potassium 3.6 mmol/l was 3...

Case History: A 68-year-old gentleman with hypertension and diet-controlled type 2 diabetes presented in September 2015 with weight loss, fatigue, low libido and cold intolerance.Investigations: Blood results demonstrated secondary hypothyroidism (TSH 0.59 mU/l (reference range 0.35–5.00), free T4 8.3 pmol/l (ref 9.0–21.0)), hypogonadotrophic hypogonadism (testosterone 1.0 nmol/l (ref 10.0–36.0), FSH 1.5, LH 1.1) and a modestly elevated pr...

Case History: A 37-year-old gentlemen was referred to metabolic bone clinic due to recurrent recent fragility fractures. He had suffered several fractures throughout childhood, and these had continued to occur into his adult life. He was blind since birth in his left eye. He felt that this had contributed to his fractures due to falls and other accidents. There had been no other major health problems in the past. His brother had a similar eye condition. There were no other ris...