Searchable abstracts of presentations at key conferences in endocrinology

ea0036P79 | (1) | BSPED2014

UK GH stimulation test survey

Chesover Alexander , Dattani Mehul

Background: Previous studies show poor consensus on the use of GH stimulation tests. Sex steroid priming and re-testing in the transition period are areas not previously surveyed. In light of more recent guidance and expert opinion, this survey aims to analyse the diagnostic processes employed in the diagnosis of GH deficiency (GHD) in the UK.Methods: Data were collected from tertiary paediatric endocrinologists, paediatricians with a specialist interest...

ea0036P72 | (1) | BSPED2014

‘Can I gain a greater height?': a case of metaphyseal chondrodysplasia, Schmid-type

Chesover Alexander , Bhandari Jasjit , Abdullah Nadeem

Objectives: 1) When and how to investigate rarer causes of short stature. 2) Evidence for interventions to improve growth in metaphyseal chondrodysplasia, Schmid-type (MCDS).Background: The incidence of skeletal dysplasia is one in 5000, however individually these conditions are rare and prognosis unclear. There is genotypic and phenotypic heterogeneity and no current consensus on classification, which may include clinical, radiographic, molecular or his...

ea0085p13 | Bone | BSPED2022

Atypical persistence of neuropsychiatric symptoms in adolescents with primary hyperparathyroidism post parathyroidectomy- a review of two cases

Mary Tharakan Riya , Matei Cristina , Khetriwal Babita , Chesover Alexander D , Allgrove Jeremy

Introduction: Neuropsychiatric manifestations are well recognised in patients with primary hyperparathyroidism (PHP). Abnormal calcium channel physiology has been implicated in several pain disorders. The psychopathology emerges after prolonged subclinical hypercalcemia, but there is poor correlation with symptom severity. We report the complex management of two adolescents with PHP, secondary to parathyroid adenoma (no predisposing germline mutation identified), with persiste...

ea0085p71 | Miscellaneous 2 | BSPED2022

Evaluation of a new multidisciplinary clinic for the endocrine assessment of patients with duchenne muscular dystrophy

Malhotra Neha , Sarkozy Anna , Allgrove Jeremy , Brain Caroline , Manzur Adnan , Chesover Alexander D

Introduction The endocrine assessment of children with Duchenne muscular dystrophy (DMD) can be necessary for management of osteoporosis, delayed puberty, obesity, adrenal insufficiency, and short stature. With ongoing implementation of the international standards of care for DMD, referrals to our Metabolic Bone Clinic (MBC) increased beyond its capacity, impacting patient care. The neuromuscular and endocrine departments implemented a new referral pathway and Multidis...

ea0095oc5.1 | Oral Communications 5 | BSPED2023

Endocrine outcomes in bardet-biedl syndrome from a large single-centre paediatric multidisciplinary clinic

Varughese Rachel , Pujari Divya , Hatton Elizabeth , Dyakova Theodora , Sparks Kathryn , Flack Sarah , Forsythe Elizabeth , Beales Phil , Chesover Alexander

Introduction: Bardet-Biedl Syndrome (BBS) is a rare, autosomal recessive ciliopathy, with a prevalence of 1 in 100,000–160,000, caused by mutations across >20 known genes encoding for proteins responsible for primary cilium/basal body complex integrity. Endocrinopathies associated with BBS include hypogonadism, hypothyroidism, and the metabolic complications of obesity. The endocrine characteristics of a large adult BBS cohort have been reported; howe...