Endocrine Abstracts

In 1976, aged twenty, Mr A J was diagnosed with a cerebral haemangioblastoma, which was successfully removed. His father died from renal cell carcinoma and a Pheochromocytoma, raising the possibility of VHL syndrome. Genetic screening was positive but no follow-up was provided.In 2004, aged 48, he presented with a two year history of persistent diarrhoea. A CT scan revealed a left sided 1.7 cm adrenal adenoma. Serial 24 h urine metadrenaline ranged betwe...

Introduction: Children with pseudohypoparathyroidism (PHP) can have a broad range of phenotypic features and biochemical abnormalities. The heterogeneity of this patient group prompted us to review the clinical features of these children in our service.Methods: We recorded the mode of presentation, clinical features, growth pattern, biochemical profile and progress of 13 paediatric patients with PHP and hypocalcaemia under review in our service over a 11...

Background and aims: The aim of our study is to investigate the possible associations between leptin and fasting insulin and index HOMA-IR in patients with Metabolic Syndrome as Leptin is involved in regulation of body weight.Materials and methods: The study included 100 patients (32 m, 68 f) 25–65 years. They were divided into 2 groups matched by sex, age, weight, body mass index (BMI), waist-to-hip ratio (WHR). Research group included 56 patients ...

The testis and epididymis collaborate in the male gamete development. The testis has the specific function to generate spermatozoa and spermatozoa undergo numerous changes passing through the epididymis. p63 in the basal layer of epithelium plays a key role in maintaining cellular populations, whereas Notch 1 and its ligand Jagged 2 have an important role in the cell differentiation and Jagged 2 is up-regulated by TAp63, which transactivates p53 target genes and induces apopto...

Adrenal rest tumours are well described in 21-hydroxylase deficiency but less frequently in 11-β hydroxylase (11-β OH) deficiency. We report a case with an established diagnosis of 11-β OH deficiency with non-compliance to steroid treatment and endocrine follow-up.He presented to Urology with haemospermia.He was found to have scrotal swellings. Ultrasound confirmed bilateral testicular tumours.CAT scan showed small para-aortic lymph nodes ...

More than 190 disease-causing mutations of V2 vasopressin receptor (AVPR2) have been identified in patients with X-linked nephrogenic diabetes insipidus (NDI). About half of the mutations lead to a loss or truncation of the receptor protein whereas missense mutations present a variety of functional alterations such as reduced binding and signaling abilities and improper cell surface trafficking. To date, the therapy of NDI focuses mainly on treating clinical symptoms with thia...

Melanocortin receptors (MCR), which belong to the superfamiliy of G protein-coupled receptors (GPCR), are preferentially coupled to Gs proteins and play a major role in the regulation of energy homeostasis. In line with this notion, mutations in the MC4R gene are the most frequent monogenic cause of severe obesity in human beings. Surprisingly, MC4R mutations isolated from obese candidates showed both increased or decreased potency to promote the Gs signalling pathway when ove...

A 24-year-old lady was initially presented with vomiting due to gastroenteritis and muscle cramps in 1993. Investigations revealed corrected calcium 1.65 mmol/l (range 2.2–2.6), phosphate 1.21 mmol/l (range 1.4–2.2) with intact Parathyroid hormone (PTH) 11 pmol/l (range 1.3–8.1) and potassium 3.1 mmol/l (range 3.5–5). She was found to have hypertension but no somatic signs. Ellsworth Howard test displayed a blunted response of cAMP and a normal phosphaturic...

A 45 year old female with Type 1 DM for 12 years presented with malaise and frequent episodes of hypoglycaemia. Thyroxine was titrated to 150 mcg once daily over 2 months because TSH was 94 mIU/L [0.2–5.50 mIU/L]. However, her malaise and hypoglycaemia deteriorated, she also developed dense hyperpigmentation in the skin.Primary hypoadrenalism was confirmed by lack of response to 250 mcg IV Tetracosactide (Serum Cortisol at Time 0 min: 98 nmol/L; Ti...

A 32-year-old woman was referred, at 12 weeks in her second pregnancy, to the antenatal diabetic clinic for control of Type 1 diabetes. HbA1c was 6.5% (4.5-6.2%DCCT).At 32 weeks gestation she was admitted with premature labour. Treatment with betamethasone resulted in hyperglycaemia. Four days later she was admitted with a suspected subarachnoid haemorrhage. Brain CT was normal. She declined lumbar puncture. Over the next 2 days she developed recurrent h...