Searchable abstracts of presentations at key conferences in endocrinology

ea0065p126 | Bone and calcium | SFEBES2019

Hypocalcaemia presentation with HDR syndrome

Benamer Sufyan

Introduction: HDR syndrome, is a rare, genetic syndrome characterized by hypoparathyroidism sensorineural deafness and renal disease. Mutations in GATA binding protein 3 (GATA3), a gene localized to the chromosome region 10p14-15, have been detected in families affected by the syndrome.Case report: This is a 30 year old lady who was referred to the endocrine services with symptoms of generalized fatigue, mouth numbness and tingklining. Her past ...

ea0065p437 | Thyroid | SFEBES2019

Radioactive iodine therapy dose for recurrent thyrotoxicosis

Benamer Sufyan , Papadopoulos Manos , Mongolu Shiva , Htut Zin

Aim: To determine the current practice of radioiodine dose treatment provided in Hull and East Yorkshire NHS Trust, in line with the recommended guidelines of the Royal College of Physicians and published data.Methods: The medical records of the patients who received more than one dose of radioactive iodine for the treatment of thyrotoxicosis in Hull and East Yorkshire NHS Trust between 2006 and 2018 were reviewed retrospectively. The level of the bioche...

ea0077cc2 | (1) | SFEBES2021

Familial hypocalciuric hypercalcaemia (FHH) type 3: A rare cause of parathyroid (PTH) dependent hypercalcaemia with associated learning disabilities and behavioural problems

Shah Najeeb , Amjad Masroor , Benamer Sufyan , Deshmukh Harshal , Sathyapalan Thozhukat , Mohammed Kamrudeen

Case: A 25-year-old male with a history of Asperger’s syndrome, not on regular medication, with no family history of endocrinopathy; was referred with mild hypercalcaemia found during routine investigations for fatigue, weight loss, diarrhoea and vomiting. A normal PTH suggested PTH-dependent hypercalcaemia. There was no history of fractures or nephrolithiasis. DEXA scan showed normal bone mineral density (femur, spine and forearm). The gastrointestinal symptoms and fatig...