Searchable abstracts of presentations at key conferences in endocrinology

ea0039oc1.1 | Oral Communications 1 | BSPED2015

Gonadotropin-independent precocious puberty of uncertain aetiology

Arya Ved Bhushan , Davies Justin H

A 5.65-year-old boy was referred with a 2-month history of accelerated growth and pubic hair development. Weight and height were >98th C. Pubertal assessment was G3 PH2 AH1 TV 5 ml/4 ml. There was no family history of precocious puberty. No birthmarks, or abdominal masses were present. Blood pressure was normal. Investigations revealed elevated testosterone (7.1 nmol/l), suppressed gonadotropins (LH <0.2 IU/l), normal 17-OHP, androstenedione and DHEAS, prepubertal LHRH...

ea0036P21 | (1) | BSPED2014

Hypercalcaemia, hypercalciuria and nephrocalcinosis secondary to a CYP24A1 mutation

Lokulo-Sodipe Kemi , Haq M R , Davies Justin H

Background: The 24-hydroxylase enzyme is responsible for the degradation of 1,25-dihydroxyvitamin D3. Loss of function mutations of the gene encoding 24-hydroxylase, CYP24A1, may cause hypercalcaemia, nephrolithiasis and nephrocalcinosis, and are responsible for some cases of idiopathic hypercalcaemia of infancy.Case: The index case presented with faltering growth at 4 months old. She was hypercalcaemic with serum calcium 2.79 mmol/l (normal r...

ea0051oc8.1 | Oral Communications 8 | BSPED2017

Hydrocortisone tablets: human factors in manipulation and their impact on dosing accuracy

Webb Emma A , Watson Cameron , Kerr Stephanie , Davies Justin H , Stirling Heather , Batchelor Hannah

Introduction: Exposure to deficient/excess glucocorticoids can lead to long-term health problems in patients with adrenal insufficiency. An age-appropriate low dose hydrocortisone formulation is not available therefore manipulation a 10 mg tablet is required with potential for inaccurate dosing.Aims: To assess the variability in manipulation procedures recommended by healthcare professionals and undertaken by parents/carers. To quantify the dose-variabil...

ea0051p010 | Adrenal | BSPED2017

An unusual presentation of congenital lipoid adrenal hyperplasia and novel STAR mutation in two siblings

Andrews Edward , Taylor Carl , Metherell Lou , Buonocore Frederica , Achermann John , Maharaj Avinaash , Davies Justin H

Introduction: Congenital lipoid adrenal hyperplasia (CLAH) is rare and caused by mutations in the steroidogenic acute regulatory (STAR) gene, which is involved in a key step in the synthesis of pregnenolone from cholesterol. Cases typically present in the first days of life with severe adrenal crisis, salt wasting and severely disrupted androgen secretion which may result in sex reversal in 46, XY individuals.Case report: We present a 21-month-o...

ea0085oc2.1 | Oral Communications 2 | BSPED2022

Coeliac disease presenting with anti-OPG antibody mediated childhood osteoporosis and response to bisphosphonate therapy

Lim David BN , Moon Rebecca J , Hunt David , Davies Justin H

Background: Children with undiagnosed coeliac disease are at risk of low bone mineral density (BMD), but whether this translates to fracture predisposition is unclear. In adults with coeliac disease anti-osteoprotegerin (anti-OPG) antibodies have been identified. OPG inhibits RANK ligand activation of osteoclastic bone resorption, and thus anti-OPG antibodies promote bone loss. We report a case of osteoporosis with elevated anti-OPG antibodies in a child with coeliac disease.<...

ea0036P66 | (1) | BSPED2014

Growth characteristics in children with Temple syndrome: an under-diagnosed imprinting disorder

Lokulo-Sodipe Kemi , Ioannides Yiannis , Davies Justin H , Karen Temple I

Background: Temple syndrome (TS) is a disorder caused by dysregulation of imprinted genes at chromosome 14q32. It is important to distinguish the growth pattern from other imprinting disorders such as Russell–Silver and Prader–Willi syndromes.Aims: To describe the growth pattern in TS.Methods: 51 cases were identified from 11 countries. Height, weight, birth weight and head circumference were converted to SDS using countr...

ea0058p010 | Bone | BSPED2018

Changes in bone mineral density from age 10 to 30 years in individuals with cystic fibrosis

Bucknall Thomas , Bucknall Catrin , Parsons Camille , Ward Kate , Legg Julian , Davies Justin H

Background: Osteoporosis and increased fracture risk associated with cystic fibrosis (CF) are becoming more relevant with improved life expectancy in this disease. The evolution of CF-related bone disease remains unclear.Aims: To evaluate change in bone mineral density (BMD) in individuals with CF from age 10 to 30 y.Methods: Data from the UK CF Trust registry, which contains anonymised clinical information, was used to evaluate BM...

ea0030oc4.2 | Oral Communications 4 | BSPED2012

Patterns of presentation and initial management of type I diabetes mellitus in the UK: the early care survey

Lokulo-Sodipe Kemi , Moon Rebecca J , Edge Julie , Davies Justin H

Background: Unrecognised type I diabetes (TIDM) can have serious consequences which may be avoidable with early diagnosis. Many children have delayed diagnosis, however contributing factors are unclear.Aims: To evaluate the patient pathway before diagnosis and initial hospital management of children with TIDM.Methods: Over a 3-month period, parents of children newly diagnosed with TIDM across the UK completed a questionnaire. Addit...

ea0095p149 | Pituitary and Growth 2 | BSPED2023

Standard clinical diagnostic criteria for Silver–Russell Syndrome frequently overlooks monogenic causes

Palau Helena , Kurup Uttara , Ishida Miho , Maharaj Avinaash V , Davies Justin H. , Storr Helen L.

Background: A diagnosis Silver–Russell Syndrome (SRS) is important for early institution of appropriate management, access to therapy and reduces the burden of diagnostic uncertainty. SRS is molecularly heterogeneous and 11p15 LOM/upd(7)mat account for ~60% cases. Monogenic causes include variants in HMGA2, CDKN1C, IGF-2, PLAG1 and contribute to 5% cases. Clinical SRS diagnosis requires the fulfilment of ≥4/6 Netchine–Harbison Clinical Scoring ...

ea0039ep8 | Adrenal | BSPED2015

Intravenous Etomidate in the management of hypercortisolaemia due to ectopic ACTH producing thymic neuroendocrine tumor

Arya Ved Bhushan , Irvine Vanessa , Rowlands Helen , Sykes Kim , Nicolin Gary , Drake William , Storr Helen , Davies Justin H

Background: Ectopic-ACTH syndrome (EAS) is an extremely rare cause of Cushing’s syndrome in young children. The intensity of ACTH secretion and hypercortisolaemia is greater in EAS than in Cushing’s disease. Control of hypercortisolaemia represents a key management step while awaiting localization of the ACTH source or in preparation to surgery. Etomidate inhibits cortisol synthesis and its rapid onset of action makes it an ideal medication in severe hypercortisolaem...