Endocrine Abstracts

Female with primary hypogonadism have inadequate function of the ovaries, with impaired production of germ cells (eggs) and sex hormones (oestrogen and progesterone). We recently came across a 22-year old female with short stature in childhood and adulthood she received growth hormone treatment (due to arrested puberty) between 3-5 years of age and further treatment at age of 10 years. She had history of IUGR, primary amenorrhoea, sensorineural deafness, congenitally missing t...

A 59-year-old woman with 46XY complete androgen insensitivity syndrome was referred back to our service. She also has history of hypertension and migraines. She was gonadectomised at the age of 15 years and treated with Ethinylestradiol. She married and was able to have enjoyable sex without the need for vaginoplasty or dilators. However, at 54 years she was firmly advised to stop Ethinylestradiol due to satisfactory bone density and “risks of HRT outweighing benefits&#14...

Background: The European Society of Endocrinology (ESE) published guidelines to standardise intravenous hypertonic saline (HTS) for severe symptomatic hyponatraemia in 2014. Two 150 mL boluses of 3.0% HTS are proposed, one after the other, to achieve an initial sodium rise of 5 mmol/l without waiting for an interval sodium result. ESE guidelines were adopted by our University Hospital in 2017. However, high rates of sodium overcorrection were observed, and the guidelines lacke...

Background: Inclisiran is the first clinically available small interfering RNA (siRNA)-based treatment, has been shown to reduce pro-atherogenic lipoproteins in patients with or without familial hypercholesterolemia (FH), diabetes mellitus (DM), or atherosclerotic cardiovascular disease (ASCVD), but has not been evaluated in Middle Eastern populations.Methods: Retrospective review of patients initiating inclisiran treatment for any indication at our cent...

Introduction: NF1 or Von-Recklinghausen’s disease, an autosomal dominant neuro-cutaneous disorder results from NF1 (a tumour-suppressor gene) mutation, predisposing to neoplasms mainly affecting eye, skin and nervous system but rarely pheochromocytoma (0.1-5.7%). The incidence increases to 20-50% if NF1 is associated with hypertension.Case history: 30 years female, known NF1 since 2005 and multiple laparotomies for intra-abdominal neurofibromas pres...

Diagnostic work-up for Cushing Syndrome (CS) can be challenging and is based on clinical and biochemical assessment. Biochemical evidence of endogenous steroid excess is demonstrated through overnight dexamethasone suppression test (ODST), low dose dexamethasone suppression test and/or 24-hour urinary free cortisol estimation (UFC). Once endogenous steroid excess is confirmed, random serum ACTH measurement is key in determining the suspected source of steroid excess: ACTH-inde...

Myxoedema coma is a rare Endocrine emergency.Case report: 28 year old Polish woman, recently travelled to the UK, presented to the A&E with 3 week history of breathlessness and bilateral leg swelling. She had a history of Trisomy 21, was not taking any medications. She had amenorrhoea for 4 months and orthopnoea with periorbital oedema with conjunctival congestion. Saturation 70% on air, 96% on 15 l of oxygen, heart rate 42, blood pressure 103/61, te...

Introduction: Klinefelter syndrome may involve multiple organ systems. The CNS, magnetic resonance brain imaging (MRI) findings (white matter changes, reduction in ventricular volume and brain size) are under recognised.We present the case report of a 47-year-old man with schizophrenia who presented with a 4-month history of lethargy, self-neglect and decline in cognitive function. Brain MRI revealed abnormal white matter changes in left frontal and temp...

Canrenone is a mineralocorticoid receptor antagonist used as a diuretic agent to treat hypertension. It is the major active metabolite of spironolactone and may be quantified in clinical studies either to ensure compliance or to gain information about pharmacokinetic-pharmacodynamic interactions.The aim of this study was to develop and validate a sensitive, quantitative assay for the analysis of canrenone in plasma.HPLC mass spectr...

Introduction: Endocrinopathies can cause secondary osteoporosis and little is known of the extent of this condition in young adults.Methods: In order to assess the bone health in endocrinopathies in young adults, a retrospective analysis of 25 transitional clinic patients who underwent dual energy X-ray absorptiometry (DEXA scan) was made using case notes and the hospital database.Results: Twenty-three patients were male and the me...