Endocrine Abstracts

Case history: FK is an 18 year old female, who attended the Turner’s syndrome clinic in our tertiary centre with primary amenorrhoea. Her family are originally from Ghana but she was born in Italy and lived there until moving to the UK in 2016. She was born full-term by normal delivery and Turner’s syndrome was diagnosed at 3 months of age due to characteristic phenotypic features. She was managed by the paediatric endocrinologists in Italy and was on growth hormone ...

A young female with autosomal dominant hypoparathyroidism type 1 who had inherited the gene defect from her mother was under the care of paediatric endocrinologist. Since childhood she was on a large dose of calcium (elemental calcium 5 g) along with Vitamin D, potassium and magnesium replacements. Despite careful monitoring there was significant fluctuations in serum calcium levels which led to recurrent hospital admissions with hypercalcaemia and acute kidney injury or sever...

Background: Autoimmune polyglandular syndrome type 1 (APS-1) is an autoimmune inherited disorder, a potentially underdiagnosed clinical entity, caused by mutations in the autoimmune regulatory gene that can present with varying symptomatology as it affects various organs, posing both a diagnostic and management hurdle. We report a case to highlight this complexity.Case report: Case details involves a female who first presented in childhood with rash, eye...

Aim: Establishing the aetiological diagnosis of hyperthyroidism relies on clinical examination, ultrasound imaging and thyroid antibodies; however there is a wide variation in practice in which of the aforementioned approaches are used. The aim of our study was to assess the reliability of clinical examination of thyroid gland in patients with hyperthyroidism, using ultrasound (US) as the reference.Methods: Case notes and letters of patients of 133 patie...

Background: Primary Hyperparathyroidism - Jaw tumour (HPT-JT) syndrome is an autosomal dominant disorder characterised by hyperparathyroidism and ossifying jaw fibromas. Inactivating germline mutations in CDC73 gene (previously known as HRPT2) is the main cause of this syndrome. There is higher incidence of parathyroid carcinoma in these individuals and also an association with other renal lesions have been described. We report a case of HPT-JT syndrome with mutation in the ex...

Background: Bloom’s syndrome is a rare autosomal recessive disorder due to chromosomal instability. It is associated with endocrinopathies such as growth deficiency, insulin resistance, type 2 diabetes, dyslipidemia and hypothyroidism. We present a case to highlight the challenges in management of diabetic emergencies in patients with complex syndromes.Case report: A 38-year-old male of Asian descent known to have Bloom’s syndrome presented to ...

Aims: Treatment regimes for low testosterone are well established but reasons for treatment change and patient preferences are less well known. We looked at the type of testosterone replacement, subsequent modification of replacement and reason for that change.Methods: Data were collected from the electronic case notes of 50 patients on testosterone replacement for at least 6 months attending endocrine clinics in a University Teaching Hospital.<p cla...

Cinacalcet increases sensitivity of the calcium sensing-receptor, currently licenced for treatment of refractory secondary hyperparathyroidism in patients with end-stage renal disease. It decreases parathyroid hormone, calcium and phosphorus levels. There is no clinical data for the use of Cinacalcet in pregnancy. Hyperparathyroidism is rare during pregnancy, mainly presenting early, when surgery is safely performed. Here we report a patient presenting with a MEN1-associated p...

Klinefelter’s syndrome is the most common cause of primary testicular failure, resulting in impairment of both spermatogenesis and testosterone production. It is a chromosomal disorder characterized testosterone deficiency with elevated gonadotropin plasma levels and the treatment involves supplementing testosterone. In Klinefelter’s syndrome there is an increase of certain systemic diseases including venous thromboembolism. It is nevertheless more frequent than in a...

Introduction: Thyrotoxicosis is one of the common referrals to the endocrine clinic. Management of the thyrotoxicosis depends on establishing the correct aetiology. The aim of the audit was to compare the management of patients with thyrotoxicosis against the guidelines proposed by the Royal College of Physicians.Methods: One hundred and two consecutive patients referred to outpatient endocrine unit in a University Hospital over 6 months were included. D...