Endocrine Abstracts

Advances in the treatment of acromegaly mean biochemical 'cure ' should be possible in the vast majority of patients. The challenge of the future will be designing treatment algorithms to optimise outcomes for individual patients, to ensure not only life expectancy but also QOL is normalised. QOL data is lacking in acromegaly, as is a disease-specific tool for measuring QOL. ACROQOL is a disease-specific QOL questionnaire compromising 22 questions (scored 1-5, high score good)...

Case History: A 60 year old female presented with anxiety and weight loss. Serum free T4 was 50 pmol/l (normal 12-23). Despite restoring T4 to normal, symptoms persisted and included flushing attacks. Urine 5-HIAA was elevated (182 micro moles/24 hrs; normal 0-40).Tests were done to locate the primary and secondary carcinoid tumour.Investigations: CT of thorax and abdomen, and ultrasound of abdomen were negative. Routine biochemistry and haematology were...

Objective: To evaluate the outcome of preoperative therapy with ketoconazole (KTZ) and/or metyrapone (MTP), in previously untreated CS patients who later underwent surgery.Design and methods: A total of 62 CS patients (85% ACTH-dependent), who have been treated with steroidogenesis inhibitors prior to surgery in our centre between 1983 and 2010, were retrospectively studied. T0 and t1 defined visit at baseline and at the end of medical treatment, respect...

Quality of Life (QoL) is a very important issue in the management of a chronic disease like acromegaly. Recently the AcroQol questionnaire was developed to evaluate the QoL in different acromegalic populations. We decided to compare the scores of AcroQol and 2 other different questionnaires: one related to general well-being (SF-36) and the other to evaluate depression (BDI). We preformed a cross-sectional evaluation of a sample of 60 Portuguese acromegalics, 20 men and 40 wom...

Background: The majority of patients with GH insensitivity have defects in the extracellular domain of the GHR. We have identified a 47yr old woman homozygous for a 22bp deletion in the cytoplasmic domain of the GHR. The patient had high GH levels, and low IGF-1 of 8 ug/L (normal 54-389 ug/L), IGFBP-3 16nmol/L (normal 61-254 nmol/L) and GHBP 6.8 percent (normal greater than 10 percent) levels. We report functional studies for this mutation (GHR1-449) which results in premature...

Background: Mutations in the GHR result in extreme short stature (Laron's syndrome). We have studied mutations from two patients with Laron's syndrome. Patient 1 (GHRextra) has a mutation in the GHR extracellullar domain due to a 108bp inframe pseudoexon between exons 6 and 7. Patient 2 (GHRintra) has a 22bp deletion in exon 10 of the GHR leading to premature termination of the GHR upstream of the intracellular STAT5 binding site.Aim: To compare GHR str...

Introduction: Patients with Cushing’s disease have significantly impaired health-related quality of life (HRQoL). Effective treatment is needed to treat Cushing’s disease and improve HRQoL; however, there are currently no approved medical treatments for Cushing’s disease. The effect of pasireotide on HRQoL in patients with Cushing’s disease was evaluated as part of a randomized, phase III study.Methods: Patients with persistent/recurr...

Introduction: Cushing’s disease (CD) is characterized by various symptoms, amongst which fatigue, muscle weakness and depression. The chronic state of hypercortisolism severely impairs quality of life (QoL). In addition, the physiological cortisol diurnal rhythm (CDR) is disturbed in CD. Transsphenoidal surgery is the primary treatment for CD, but long-term remission rates are disappointing. We performed a prospective trial in which stepwise medical treatment was applied ...