Endocrine Abstracts

Differentiated thyroid carcinomas (DTC) (papillary, follicular and follicular type of papillary) are characterized by a favourable prognosis, but a part of patients can develop recurrences and eventually die of the disease. We retrospectively reviewed 108 DTC patients affected by locally advanced thyroid carcinoma (77 females, 31 males) (49±15 years), in order to evaluate validate known prognostic factors that enable them to be recognised as having a low or a high risk of...

A 68 year old retired accountant presented with loss of libido, reduced shaving frequency, obesity and gynaecomastia. His past medical history included osteoarthritis and facial acne. There was no related family history and he was taking no medications. He reported having two children.On examination the BMI was 31.7 kg/m2 and height 181 cm. He was normotensive and bilateral gynaecomastia was noted. He has reduced body hair; testicular volume w...

37 year old gentleman presented with Cushing’s disease at the age of 15 with obesity, growth retardation, and vertebral fracture. After bilateral adrenalectomy and pituitary irradiation he was treated with hydrocortisone and fludrocortisone. After being lost to follow up for a number of years he was referred to our endocrine clinic in 1999. Clinical examination revealed that he was obese (BMI 39.2), hypertensive and had marked abdominal striae. Investigations revealed an ...

NIS and Tg are viewed as characteristic markers for thyrocytes. They are still expressed in a high percentage of differentiated and undifferentiated thyroid carcinomas but these data are obtained by conventional immunohistochemistry. Here we used tissue microarrays and confocal microscopy to compare subcellular localization of Tg and NIS in a large series of benign and malignant thyroid samples.Methods157 papillary (PTC), 56 follic...

A 30 year-old man was assessed for gynaecomastia. He had been treated for GH deficiency from the age of 3 to 16. His non-consanguineous parents were of short stature (maternal height 1.22 m, paternal height 1.58 m), as was a half-sister (1.55 m). The patient’s height was 1.55 m with an arm span of 1.48 m and his BMI was 31. Testicular volume was 18 mL and secondary sexual characteristics were normally developed. Lipomastia was diagnosed and subsequently treated surgically...

A 23 year-old male was assessed for recommencement of growth hormone replacement therapy. He had discontinued treatment a year ago but not experienced any adverse symptoms since.The patient had been born with multiple congenital malformations. Midline defects included oesophageal atresia, imperforate anus and partial sacral agenesis. Urogenital abnormalities required a left nephro-ureterectomy soon after birth and an orchidopexy was performed at the age ...

A 26-year-old woman presented with vomiting and cortical blindness. CT scan of the brain confirmed a right-sided parietal-occipital infarct, She subsequently developed seizures and neurological extension resulting in global dysphasia. Serum and CSF lactate were elevated (4.4 and 4.3 mmol/l respectively, NR<1.8). MELAS syndrome was confirmed by mitochondrial DNA analysis, which revealed an A3243G mutation in muscle and serum (85% muscle, 63% urinary epithelial cells and 33%...

The pharmacology and function of G protein-coupled receptors (GPCRs) is frequently studied following expression of a single receptor in heterologous cell lines. However, many GPCRs are co-expressed. We wished to investigate how expression of pairs of receptors might modulate their function. Using a Human Embryonic Kidney 293 cell line in which the CB1 cannabinoid receptor was expressed constitutively and in which varying levels of expression of the orexin-1 receptor could be i...

Progressive osseous heteroplasia (POH, MIM 166350) is a rare autosomal dominant disorder characterised by extensive dermal ossification during childhood, followed by widespread heterotopic ossification of skeletal muscle and deep connective tissue. Recently, genetic basis was found to be common with Albright’s hereditary osteodystrophy (AHO) (Shore et al., 2002): paternally inherited inactivating mutations of the GNAS1 gene were found. GNAS1 is the ge...

The requirement for Sestimibi imaging of the parathyroid glands has increased over recent years, partly due to advances in surgical techniques and the need for accurate pre-operative localisation. We audited sestimibi imaging to ensure efficient and appropriate use of this tool in the face of increasing demand. Over two and a half years 128 scans were identified by Nuclear Medicine. We obtained biochemistry and operative status for these using the hospital patient administrati...