Endocrine Abstracts

26 year old gentleman with classic salt-wasting CAH due to 21-hydroxylase deficiency was maintained on hydrocortisone 7.5mg+7.5mg+5mg along with fludrocortisone 100 mg OD. Due to inadequate biochemical control, his hydrocortisone was increased to 10mg+10mg+5mg initially, which was subsequently switched to prednisolone 5mg+2.5mg. His 17-OH progesterone continued to remain high (300-400 nmol/l) with suppressed gonadotrophins and a high normal testosterone suggestive of mostly ad...

Case history: We report a 25-year-old man who presented to Neurology with two years history of a migrainous headache mainly at night. MRI head scan demonstrated large lobulated pituitary macroadenoma with significant suprasellar extension and anterior visual pathway compromise along with distortion of the basal forebrain, particularly on the right. Consequently, he was referred to the endocrinology team for further management. Upon initial assessment, he reported foot size enl...

Introduction: There are two isoforms of the insulin receptor (IR), generated by the alternative splicing of exon 11 to give IR-A (exon 11-) and IR-B (exon 11+) isoforms. The differing distribution and function of the isoforms has been postulated to play a role in the pathogenesis of diabetes mellitus, myotonic dystrophy and thyroid carcinoma. Previous work investigating IR alternative splicing has identified hormonal factors, splicing elements and factors which modulate the re...

Case history: A 35-year-old woman with known hypertriglyceridaemia presented with a one day history of abdominal pain, vomiting and fever. She was 14 weeks pregnant having conceived spontaneously following a period of infertility. She had discontinued her lipid-lowering medication and was managed with diet alone. On examination, she was pyrexial, tachycardic (HR=100 bpm), normotensive (BP=111/71 mmHg), oxygen saturation was 96% on air and she had a tender distended abdomen. A ...

A 40 years old man with a diagnosis of Adrenoleukodystrophy (ALD) was referred for evaluation of symptoms suggestive of hypogonadism. He had a past medical history of ALD associated adrenal insufficiency and osteoporosis. He took regular hydrocortisone and a trial medication, MD1003.Following review, post clinic blood tests revealed a testosterone 24.5 nmol/l (7.6–31.4), LH 8.8 IU/l (1.7–8.6) and FSH 1.5 IU/l (1.5–12.4). Thyroid function t...

Phaeochromocytomas are life-threatening catecholamine-producing tumours of the adrenal medulla. Our understanding of their pathogenesis is incomplete, with limited ability to predict malignant potential and disappointing treatment results in disseminated disease. Phaeochromocytomas occur in the inherited cancer syndrome von Hippel-Lindau (VHL). One function of VHL protein is in the formation and maintenance of primary cilia. These are microtubule-based organelles that protrude...

Phaeochromocytomas are neuroendocrine tumours arising from adrenal medulla chromaffin cells. They are life threatening due to adrenaline and noradrenaline release and potential for metastatic spread. Understanding of phaeochromocytoma pathogenesis is incomplete with limited ability to predict malignant potential. Additionally, once metastatic, response to conventional therapies is disappointing.Phaeochromocytomas are a common feature of the inherited can...

Introduction: Primary, non-motile, cilia are microtubule-based organelles that protrude from the cell membrane into the extracellular environment of virtually all nucleated mammalian cells. They function as signalling platforms involved in the transduction of extracellular stimuli and have an important role in cell cycle regulation. Disruption of primary cilia structure and therefore function has been identified in a range of cancers including kidney, breast, pancreatic and pr...

Introduction: Von Hippel-Lindau (VHL) syndrome is a complex multi-organ disorder with significant associated morbidity and mortality. Patients see multiple specialities and have many clinic appointments which can significantly disrupt their lives. In 2012 the St Bartholomew’s VHL multi-disciplinary clinic was set up. It consists of an amalgamated one-stop clinic for patients and their families when all relevant specialities are seen in one sitting. The major aims were to:...

Background: The growth hormone receptor (GHR) 6Ψ pseudoexon mutation (A to G at ds-1) is one of the most frequent mutations causing GH insensitivity. It causes aberrant mRNA splicing, leading to activation of a pseudoexon and insertion of 36 additional amino acids, resulting in a functionless receptor. Although IGF-I remains the mainstay of treatment for these patients we investigated the ability of RNA antisense oligonucleotides (ASOs) to correct aberrant GHR splicing us...