Endocrine Abstracts

In 1981 a 33 yr old woman was diagnosed with Graves thyrotoxicosis and type 2 diabetes mellitus. At diagnosis her BMI was 19 kg/m2 and she was initially treated with carbimazole and glibenclamide. She had a past medical history of idiopathic lymphoedema, asthma and bronchopulmonary aspergillosis and was regularly reviewed by an ophthalmologist for hyperpigmented maculae.In 1991 she required insulin to control her diabetes and developed progres...

One study examining the lipid profile of adults with partial GH deficiency (GH insufficiency, GHI) suggested they are dyslipidaemic. We defined GH status using two stimulation tests, the ITT and AST, in to patients with severe GHD (pGH < 3ng/ml, n = 30) or GHI (pGH 3 - 7ng/ml, n = 24). Thirty age and gender matched controls were studied.There were no differences in age between the GHD, GHI, and control subjects (30.9 vs 31.5 vs 34.2 yrs). IGF-I levels...

Triple A syndrome is is a rare autosomal recessive disorder characterised by achalasia, alacrima, adrenocorticotropin-resistant adrenal insufficiency and a variable and progressive neurological phenotype. The AAAS gene encodes a 60kD WD-repeat nuclear pore protein named ALADIN (alacrima, achalasia, adrenal insufficiency neurologic disorder); its function and tissue distribution are unknown. In this study we performed in situ hybridization with 35S end-labelled AAAS mRNA oligon...

Agranulocytosis complicating carbimazole (CBZ) therapy occurs in <1% of treated patients and generally presents in a charachteristic way. A 72 year old female presented with thyrotoxicosis (FT4 44.9 pmol/l, NR 12.5-20.5), confirmed as Graves disease on investigation. Treatment was commenced with carbimazole. 4 weeks after beginning therapy she complained of a painful red eye, nausea, anorexia and weight loss. Examination confirmed iritis. Subsequent investigations revealed ...

We report the case of a 41-year-old woman who was under investigation for deranged liver function tests following an insurance medical when she also serendipitously was found to have hypercalcaemia - 2.70 millimols per litre (Reference range 2.45-2.65 millimols per litre). She was completely asymptomatic and on no medication. She had an elevated Parathyroid hormone level of 11.6 picomols per litre (Reference range 0.9-8.0 picomols per litre), consistent with primary hyperparat...

Objective: Propylthioracil (PTU) when given long term has recently been implicated in the development of antineutrophil cytoplasmic antibody (ANCA) related systemic vasculitis. We describe a case of ANCA positive athropathy induced by long term PTU therapy. Methods: Assessment was based on patient's symptoms, signs, serum markers and treatment outcome as revealed by case notes and patient review. A Medline search for PTU related vasculitis was also performed. Results: A 27-yea...

A 32 year old women presented to her G.P.with a four month history of a lump in her neck, weight loss and anxiety. She had hyperthyroidism (TSH <0.1 mU/l, fT4 >100 pmol/l, TPO antibodies 318IU/ml). Thyroid U/S showed a 2x3cm nodule in the right lower pole. A thyroid isotope scan was reported as showing increased uptake throughout the gland with an area of decreased uptake in the right lower pole. She was started on carbimazole 30mg o.d. and she was referred to a head and ne...

The basic mechanisms underlying thyroid growth and proliferation in thyroid cancer are still incompletely characterized. Lithium inhibits GSK3beta and affects via phosphorylation the degradation of free beta-catenin, a potent transcription factor. Hence, using lithium as a model to modulate the wnt/beta-catenin pathway, we investigated its potential activation in-vitro in neoplastic human thyroid cell lines (FTC133, NPA).Our results show that lithium fun...

FGFs and T3 are required for skeletal development. Activating mutations of FGF receptor-1 (FGFR-1) and FGFR-2 cause craniosynostosis, whilst FGFR-3 is a negative regulator of chondrocyte proliferation and activating mutations cause achondroplasia. Childhood hypothyroidism causes delayed ossification and growth retardation, whereas thyrotoxicosis accelerates bone development, induces premature growth plate and skull suture closure and causes short stature and craniosynostosis. ...

T3 is essential for normal skeletal development. Childhood hypothyroidism causes delayed bone formation, whereas T3-excess accelerates growth and epiphyseal closure. Fibroblast growth factors (FGFs) act via receptor tyrosine kinases (FGFRs) to inhibit chondrocyte proliferation, matrix production and skeletal maturation. Dimerisation of FGFRs and their functional interaction with FGFs requires heparan sulphate proteoglycans (HSPGs). We recently showed that T3 induces FGFR-1 exp...