Searchable abstracts of presentations at key conferences in endocrinology

ea0055wf1 | Workshop F: Disorders of the gonads | SFEEU2018

Sex steroid replacement in primary amenorrhoea due to Turner’s syndrome

Sukumar Nithya , Naeem Aamir , Sankar Sailesh

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 ...

ea0044p52 | Bone and Calcium | SFEBES2016

Continuous synthetic PTH1-34 replacement therapy in the treatment of autosomal dominant hypoparathyroidism type 1

Jahagirdar Vidhya , Stirling Heather , Sankar Sailesh

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...

ea0077p161 | Bone and Calcium | SFEBES2021

Autoimmune Polyglandular syndrome presenting with multiple Endocrinopathies

Awala Orighomisan , Machenahalli Pratiba , Sankar Sailesh , Randeeva Harpal , Weickert Martin

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...

ea0034p387 | Thyroid | SFEBES2014

Is there a need to change how we approach a patient with hyperthyroidism?

Varadhan Lakshminarayanan , Altaf Anney , Varughese George , Sankar Sailesh

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...

ea0028p2 | Bone | SFEBES2012

A case of HPT-JT syndrome with mutation involving exon 2 of CDC73 gene

Rao Ranganatha , Sivaraman Subash , Harrold Christopher , Murthy Narasimha , Sankar Sailesh

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...

ea0077p200 | Metabolism, Obesity and Diabetes | SFEBES2021

Management of the common within the uncommon: Euglycemic ketoacidosis in Bloom’s syndrome

Nair Nalini , Awala Orighomisan , Thadani Puja , Yasear Zhainab , Rao Ranganatha , Murthy Narasimha , Sankar Sailesh , Randeeva Harpal

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 ...

ea0021p93 | Clinical practice/governance and case reports | SFEBES2009

Reasons for treatment changes in hypogonadal men undergoing testosterone replacement

Dutton David , Outterside Kate , Padinjakara Rayin , Weickert Martin , Randeva Harpal , Sankar Sailesh

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...

ea0021p199 | Endocrine tumours and neoplasia | SFEBES2009

Cinacalcet treatment of resistant hypercalcaemia due to MEN1-associated primary hyperparathyroidism in pregnancy

Wysota Barbara , Horne Stephanie , Smyth Angharad , Anwar Aresh , Sankar Sailesh , Weickert Martin

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...

ea0015p33 | Clinical practice/governance and case reports | SFEBES2008

Thrombo-embolism and Klinefelter’s syndrome

Murthy PN Narasimha , Bellary Srikanth , Anwar Aresh , Randheva Harpal , Sankar Sailesh

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...

ea0015p34 | Clinical practice/governance and case reports | SFEBES2008

Thyrotoxicosis management audit

Kumar Anupa , Murthy Narasimha PN , Anwar Aresh , Randheva Harpal , Bellary Shrikanth , Sankar Sailesh

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...