Endocrine Abstracts

Hyponatraemia is the most common electrolyte abnormality, encountered in up to 30% of inpatients. Inappropriate management can have serious implications for patients; including demyelinating disease, coma, and death.Methods: Patients (n=100) admitted to the medical admission unit of a district general hospital with a serum sodium (Na) <130 were selected for the study. All details including patient demographics, blood biochemistry, date of admi...

Objectives: The aim of the audit was to determine how our current clinical practice differs from that of the national standard set out in the UK by NICE guidance CG87 in regards to the use of exenatide.Material and methods: We measured weight and HbA1c at baseline and then again at 6 months from the date exenatide was started. The UK NICE guidelines recommends exenatide should only be considered in patients with a BMI≥35.0 kg/m2 with a H...

Background: There are over 650 liver transplants performed in the UK each year and about 5000 throughout Europe. After transplantation patients suffer from bone loss due to multiple factors. We present a unique case of severe Vitamin D deficiency resulting in life threatening hypocalcaemia following liver transplantation.Case: A 65-year-old Indian lady underwent an uncomplicated liver transplant, for hepatocellular carcinoma related to Hepatitis C. Pre a...

ACTH insensitivity or familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder first described in 1959. We demonstrated in 1993 that about 25% of affected patients have nonsense or (more commonly) missense mutations in the ACTH receptor (melanocoprtin 2 receptor, MC2R). Functional analysis of these mutations had been especially difficult until our discovery in 2005 that the receptor requires an essential accessory factor – the melanocortin 2 recepto...

Aromatase inhibitors (AIs) have been proposed as a modality in the treatment of short stature in boys. Improvement in final height and predicted final height has been observed in children with constitutional delay of growth and puberty and idiopathic short stature. AIs block the conversion of androgens to estrogens and thus may delay epiphyseal fusion and thereby prolong linear growth. We report our experience with the use of letrozole, a third generation AI, in a boy with gen...

A young female presented concerned that she may have Addison’s disease. She had noted increasing pigmentation and reported her sister had died from undiagnosed Addison’s disease. She was hypotensive, with no postural drop in her blood pressure. She was hyponatraemic and hyperkalaemic. An initial 250 μg Synacthen test performed in the afternoon gave a baseline cortisol of 258 nmol/L and a 30 minute cortisol of 291 nmol/L. In view of this, the Synacthen test was r...

During the luteal phase of the menstrual cycle aldosterone increases mainly due to the antagonistic properties of progesterone at the MR and due to estrogen-mediated stimulation of angiotensinogen. Little is known about other steroid-metabolizing enzymes that may influence steroid receptor binding, eg 11beta-HSDs, A-ring reductases. Therefore a group of ten normotensive female volunteers with regular menstrual cycles were studied on day 7 (follicular phase) and day 21 (luteal ...

Wolffian duct (WD) development is believed to be testosterone dependent. However, patients with complete androgen insensitivity syndrome (CAIS) and a causative mutation in the androgen receptor (AR) still develop WDs. Exceptions to this observation are those patients with severe N-terminal mutations. We investigated the role of the AR in WD development in these patients.AR expression in genital skin fibroblasts (GSF) from eleven patients with CAIS was studied by Western hy...

Sex differentiation is the development of the internal and external genitalia following gonad determination. Genital ridge formation is regulated by WT1, SF1 and LHX9 whereas SRY is a major player in testis determination. Quite how SRY functions as a transcription factor is still unknown twelve years after the (i)SRY(/i) gene was cloned. How testis determination is regulated is incomplete, as the cause of sex reversal is unknown in the majority of patients with XY gonadal dysg...

Introduction: 11-beta-dehydroxysteroid dehydrogenase-1 (11BHSD1) is a bidirectional enzyme which converts inactive cortisone and 11-dehydrocorticosterone to active cortisol and corticosterone and vice-versa. The direction is dependent on NADPH availability and the action of the cofactor enzyme hexose-6-phosphate dehydrogenase (H6PDH). Cortisone reductase deficiency is a rare disorder caused by defects in 11BHSD1 or H6PDH, leading to inability to regenerate act...