Endocrine Abstracts

Introduction: A Mucocele is a collection of mucus enclosed by sinus epithelium within the paranasal sinuses. The pathogenesis is debated but a history of nasal obstruction, nasal surgery, nasal polyps or trauma is common but not universal. Mucoceles can erode local bone structure and invade the orbits. Four cases of sphenoidal mucoceles presenting with headache, 1–15 years post trans-sphenoidal pituitary surgery have previously been reported. We present two cases of front...

Introduction: Dopamine Agonists are important in the management of endocrine disorders such as acromegaly and hyperprolactinaemia. Recent studies have shown that Cabergoline used in high doses to treat Parkinson’s disease is associated with cardiac valve fibrosis.Methods: We identified patients on long term high-dose cabergoline for the management of acromegaly. The following data was analysed: demographic data, duration of treatment, cumulative dos...

We report the case of a 26 year old man who presented to his GP with infertility; biochemical investigations revealed elevated serum free thyroid hormones (FT4 41 pmol/l (12–22); FT3 13.4 pmol/l (2.8–7.1); and a normal TSH (2 pmol/l (0.27–4.2). He was referred to the endocrine department.On examination, he was found to be clinically well though thin (BMI 18), anxious and tremulous. His heart rate was 110 bpm and blood pressure was normal. ...

A 57 year old Caucasian woman complained of severe back pain and arthralgia of large joints. Her arthralgia gradually got worse and she also noticed proximal muscle weakness. Blood tests showed normal CRP but elevated alkaline phosphatase of 521 iu/l with normal Gamma GT. Phosphate was low at 0.75 mmol/l with normal corrected calcium of 2.6 mmol/l. A DEXA scan suggested osteoporosis (Spine T −2.5). Isotope bone scan revealed increased activity in the right tibia and plai...

Introduction: The biochemical diagnosis of acromegaly is based on elevated plasma growth hormone (GH) that fail to suppress after an oral glucose load. Elevated insulin like growth factor 1 (IGF1) supports the diagnosis. Traditionally GH level of less than 2 miliunits per litre rules out acromegaly. With advent of recent sensitive GH assays, lower levels of GH are increasingly being recognized. We describe a case of acromegaly which differed from the traditional presentation.<...

We present two patients who were originally diagnosed with polycystic ovarian syndrome (PCOS). A 23 year old was referred with deteriorating hirsutism. Her menstrual cycle was reported as entirely regular following the menarche at age 13. Examination revealed her to be obese with a body mass index of 33 and hirsute, with a Ferriman and Gallway score of 19. She had a typical PCOS appearance on trans-vaginal ultrasound scan. Additional investigations in endocrine clinic revealed...

Background: The clinical presentation of non-functioning pituitary adenomas (NFAs) can range from an incidental finding on imaging to pituitary hormone deficiencies and visual compromise.Objective: To assess the clinical presentation of patients who had undergone surgical resection of histologically proven NFAs.Methods: Patients presenting to the University Hospital of Wales, Cardiff, with non-functioning pituitary adenomas (histol...

Background: The CYP11B1 (11β-hydroxylase) and CYP11B2 (aldosterone synthase) genes are found in close proximity on human chromosome 8 and are highly polymorphic, enabling the definition of two common haplotypes. Haplotype1 includes the -344T and the Intron2 conversion polymorphisms in CYP11B2 and also the -1889T, -1859G polymorphisms in the regulatory region of CYP11B1. We and others have shown that these associate with increased aldosterone pr...

The corticosteroids aldosterone and cortisol are implicated in the aetiology of hypertension. The CYP11B1 and CYP11B2 genes encode 11β-hydroxlylase and aldosterone synthase; polymorphisms across the CYP11B1/B2 locus are associated with increased aldosterone production, inefficient 11β-hydroxlation and hypertension. While polymorphisms located in the promoter region of both genes may alter transcription factor binding, other variants located in th...

A 22 year old lady, in her third pregnancy, presented at 35 weeks gestation with modest hypertension (BP 130/90). She was known to carry a high risk mutation for Von Hippel Lindau syndrome with no prior disease manifestations. Urinary catecholamine levels were normal at 18 weeks gestation and she remained asymptomatic throughout her pregnancy. Repeat measurement at 35 weeks demonstrated elevated noradrenaline and normetadrenaline values (1761 nmol/24h and 9.69 micromol/24h res...