Searchable abstracts of presentations at key conferences in endocrinology

ea0038p54 | Clinical practice/governance and case reports | SFEBES2015

TB or not TB: that is the question

Farrell Catriona , Perry Colin

A 37-year-old man presented with persistent right hip pain and night sweats. CT of chest, abdomen, and pelvis revealed a right iliopsoas abscess from which mycobacterium species tuberculosis isolated. He commenced quadruple agent anti tuberculous chemotherapy. Repeat CT 1 year later showed complete resolution of the abscess but a 3.3×1.7 cm mass replacing the right adrenal gland. Considered likely to represent healed tuberculous lesion, treatment completed, and patient di...

ea0044ep20 | (1) | SFEBES2016

Adult presentation of hypophosphatasia due to a novel compound heterozygous Tissue Nonspecific Alkaline Phosphatase (ALPL) mutation

Farrell Catriona , Strachan Judith , Sankar Sripada , McWilliam Catherine , Alipour Faz , Newey Paul , Schofield Chris

A previously well 27-year old female presented with atraumatic foot pain to the orthopaedic service and was identified to have a healing subacute metatarsal stress fracture in the right foot. In view of the unusual presentation, the patient was referred to the metabolic bone clinic for further evaluation.On initial evaluation the patient reported no prior skeletal, joint or dental problems. However at the time of review she reported pain in her right thi...

ea0065p86 | Bone and calcium | SFEBES2019

Effect of vitamin D analogue therapy in a patient with autosomal dominant hypocalcaemia type 2 (ADH2) due to GNA11 p.Arg60Leu mutation

Farrell Catriona , Hannan Fadil , George Jacob , Robinson Emma , McLean Joanne , Boon Hannah , Cranston Treena , Goudie David , Thakker Rajesh , Newey Paul

Background: Autosomal dominant hypocalcaemia (ADH) is most commonly due to activating mutations in the Calcium Sensing Receptor (ADH Type 1), in which treatment with vitamin D analogues is frequently associated with hypercalciuria. More recently, activating mutations in the alpha-subunit of the G-protein α-11 (Gα11), encoded by GNA11, have been identified in a small number of ADH kindreds (ADH Type 2). The impact of vitamin D analogue treatment in ADH2 patie...