Endocrine Abstracts

Hypophosphataemic rickets with hypercalciuria (HHRH) is a rare autosomal-recessive condition, typically reported in consanguineous families. Milder forms, with less significant hypophosphataemia, present with hypercalciuria and nephrolithiasis, without bone disease and may be underdiagnosed. The underlying pathophysiology is due to mutations in the SLC34A3 gene, which encodes a sodium-phosphate transporter in the proximal renal tubules. Our patient, a 13-year-old Caucasian gir...

Aim: To ascertain epidemiology and outcomes in Maltese patients with acromegaly.Method: Retrospective case record study of acromegalic patients diagnosed between 1979 and 2008.Results: Forty-seven patients were recruited (25 females and 22 males). The prevalence of acromegaly in the Maltese population was 11.4 per 100 000 population. Of 77% had a macroadenoma (53% extrasellar, 24% intrasellar). Of 15% had a microadenoma. Two tumour...

Familial isolated growth hormone deficiency is exceedingly rare. We present two siblings of non-consanguineous parents with this syndrome and describe their response to growth hormone therapy. We have also carried out a mutational analysis of their GH1 and GHRH-R genes.A mutation scan of the entire coding region and flanking intronic sequences of GH-1 and GHRH-R was undertaken in both index cases and parents. GH1 and GHRH-R mu...

A 68-year-old lady was admitted with constipation, epigastric pain, vomiting, occasional coffee ground emesis and melena. She had no chest pain, osmotic symptoms or weight changes. Past medical history was significant for peptic ulcer disease and she was not taking any medications apart from over the counter cod liver oil. She did not have diabetes or cardiovascular risk factors. Her sister had type 1 diabetes. Examination was remarkable for dehydration, mild tachycardia and m...

A 26 year old man of Angolan descent presented to the endocrine clinic with poorly controlled hypertension (systolic blood pressure >200 mmHg). He had been treated with Amlodipine for almost six years, and more recently the addition of Irbesatan and Indapamide had not led to adequate blood pressure control. His hypertension was diagnosed at age 19 and progressive features of Cushing’s disease had remained unnoticed, with truncal striae, easy bruising, myopathy, puffin...

Macroprolactinaemia, a common phenomenon variably expressed in different assays, influences interpretation of prolactin results, as recognised since 1978. The degree of macroprolactinaemia manifest over time is less well described. We examined how macroprolactin status (based on polyethylene glycol(PEG) precipitation prolactin % recovery) varied over serial measurements in hyperprolactinaemic individuals.Methods: All serum total prolacti...

A 69 year old male was referred with a 60 year history of recurrent hypoglycaemia. Over the previous 12 months he had several episodes of severe hypoglycaemia, which necessitated emergency treatment from paramedics. He had been diagnosed with a hypoglycaemic disorder at the age of 9 years, but no underlying cause had been identified. He had no other previous history of note, though he was macrosomic at birth with a birth weight of approximately 5.9 kg. His mother was diagnosed...

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...

Management of Thyrotoxicosis in a Non-compliant Pregnant WomanA 23-year-old woman with Grave's disease presented to thyroid clinic 29 weeks into her first pregnancy having recently moved into the area. She had failed to attend hospital thyroid clinics elsewhere and frequently changed her address.Despite propylthiouracil 300 mg daily she had marked tremor, tachycardia 100 bpm, ophthalmopathy, and a large smooth goitre. TSH <0.0...

Bone turnover markers (BTMs) may have a role in assessing bone turnover and response to intervention in Paget’s disease. We examined the clinical utility of bone turnover markers at diagnosis through analysis of our database of patients with radiographically confirmed Paget’s disease.We identified 36 patients (20 men); mean age at diagnosis was 71.6 years (range 54–84). Radionuclide imaging identified that 64% had polyostotic disease, with...