Searchable abstracts of presentations at key conferences in endocrinology

ea0039ep19 | Bone | BSPED2015

Rickets due to dietary calcium deficiency in Manchester

Juma Fatema Zehra , Santos Rui , Mughal M Zulf

Background and aims: Rickets is a childhood condition resulting from impaired mineralisation of the growth plate, resulting in bony deformities. A retrospective survey was undertaken to identify causes of rickets in children treated at the Royal Manchester Children’s Hospital from 2009 to 2014.Methods: Cases of rickets were identified through a search of all paediatric radiology reports containing the words ‘Rickets’ or ‘Osteomalacia&...

ea0005p31 | Clinical Case Reports | BES2003

Tumour metastases following laparoscopic resection of adrenal cortical carcinoma

Imtiaz K , Nirodi G , Wallis S , Mughal M

Laparoscopic adrenalectomy has become increasingly popular because of its minimally invasive nature for managing benign pathologies of the adrenals and isolated adrenal metastases, but selection of cases suitable for this surgical procedure is very important.We report a 61 year old lady who presented with symptoms of easy bruising, flushing, hoarse voice, weight gain and proximal muscle weakness. On examination, she was had moon facies, skin bruising and was hypertensive. ...

ea0095p93 | Bone 2 | BSPED2023

Hematopoietic stem cell transplantation partially rescued the bone phenotype and prevented upper airway obstruction in a boy with pycnodysostosis: A case report

Lordudass Alexis Anand Dass , Wynn Rob , Wilkinson Stuart , Padilela Raja , Chinoy Amish , Mughal M. Zulf

Introduction: Pycnodysostosis (PYCD) is a rare autosomal recessive disorder caused by a mutation in cathepsin K (CTSK) gene resulting in increased bone density. The condition is characterised by short stature, acro-osteolysis of distal phalanges, osteosclerosis with increased bone fragility, dysplastic clavicula, delayed closure of sutures, mandibular hypoplasia, dental crowding and upper airway obstruction, causing obstructive sleep apnoea syndrome (OSAS). We...