Endocrine Abstracts

A 39 yr-old female with a past medical history of a non-metastatic ductal breast carcinoma, presented to hospital with a two-week history of vomiting and dizziness. Clinical examination was essentially normal apart from pigmentation of her mastectomy scar, palmar creases and buccal mucosa. Investigations revealed a plasma sodium (Na) 102 mmol/l, potassium 4.9 mmol/l, plasma osmolality 219 mOsm/kg, urine osmolality 173 mOsm/kg and urine Na 36 mmol/kg. She was treated with fluid...

Patients with craniopharyngioma have increased mortality attributed to cardiorespiratory disease, when compared to other hypopituitary populations. There is little data on the cause for excess of fatal respiratory disease in this condition. Clinical observation had identified sleep apnoea in some craniopharyngioma patients in our cohort. Sleep apnoea increases cerebrovascular and cardiovascular morbidity and mortality. Our hypothesis was that sleep apnoea could be a contributo...

Leptin is an adipocytokine with a role in appetite, energy expenditure and reproductive regulation. In normal, non-obese individuals, leptin levels are higher in females, independent of differences in body fat between the genders. High levels of leptin that were disproportionate to body mass index (BMI) have been reported in craniopharyngioma patients, thus we hypothesised that surgical resection and hypothalamic damage conferred leptin resistance on craniopharyngioma patients...

The paired-like homeodomain transcriptional repressor HESX1 is implicated in forebrain and pituitary embryogenesis. A homozygous mutation (R160C) was identified in two siblings with septo-optic dysplasia (SOD), with consequent loss of DNA-binding. We have now identified a second homozygous mutation (I26T) within the highly conserved engrailed homology domain (eh-1) of HESX1 that is crucial for the repressor function of HESX1. We aimed to investigate the functional consequences...

Background and Aim: The development of the pituitary gland is closely linked to this of the eyes and forebrain, as they all originate from the same embryonic origin, the anterior neural ridge. The constellation of symptoms leading to septo-optic dysplasia (SOD) is well established; other ophthalmic signs may be under-reported. The aim of the study was to define if patients with hypopituitarism present with eye abnormalities, which are distinct from optic nerve hypoplasia (ONH)...