Searchable abstracts of presentations at key conferences in endocrinology

ea0034cmw4.1 | Workshop 4 (Supported by <emphasis role="italic">Endocrinology, Diabetes &amp; Metabolism Case Reports</emphasis>) Cardiovascular risk in endocrine disease | SFEBES2014

Cardiovascular risk in Turner’s syndrome

Donaldson Malcolm

The cardiac problems encountered in girls and women with Turner’s syndrome include: congenital anomalies such as biscuspid aortic valve (30%) which is a risk factor for aortic stenosis and for future aortic rupture, coarctation of the aorta (12%), persistent left superior vena cava (13%) and partial anomalous pulmonary venous return (13%); a tendency towards hypertension (seen in 25% of adolescents) which appears essential in nature and which is not correlated with altera...

ea0030s5 | CME TRAINING DAY | BSPED2012

Hypothyroidism

Donaldson Malcolm

Hypothyroidism exists when function of the hypothalamic–pituitary–thyroid axis is impaired, either with normal or subnormal thyroid hormone levels – compensated and decompensated hypothyroidism. Hypothyroidism is called primary when the abnormality is at the level of the thyroid gland itself and central when the defect is in the hypothalamo-pituituary axis.Central hypothyroidism, whether congenital or acquired, almost always occurs in the ...

ea0025mte4 | (1) | SFEBES2011

Managing Turner Syndrome through childhood and adolescence

Donaldson Malcolm

Turner syndrome (TS), defined as loss or abnormality of the second X chromosome in a phenotypic female, affects 1 in every 2500 live female births. Around 155 females will be born with TS in the UK each year, with ~2800 girls ≤18 years and ~6500 women aged 18–60 years living with the condition. Short stature is a constant feature with gonadal dysgenesis present in ~90%, Associated features include dysmorphic features which are often mild, lymphoedema, otitis media w...

ea0017p19 | (1) | BSPED2008

Results of a UK survey of oestrogen replacement in patients with Turner syndrome

Gault EJ , Donaldson MDC

Previous work (Bath et al. 2001) has shown that while pubertal induction in Turner syndrome (TS) is fairly standard, post-induction oestrogen replacement is more variable. To identify current practice and to inform the design of two proposed randomised controlled trials (RCTs), a questionnaire was devised on behalf of the British Society for Paediatric Endocrinology and Diabetes for its members, members of the British Society for Paediatric and Adolescent Gynaecology and clini...

ea0033p52 | (1) | BSPED2013

46,XX pure gonadal dysgenesis with tall stature due to an Xq21.2 deletion

Narayanan Vidya K , Tolmie John , Donaldson Malcolm

Introduction: 46,XX gonadal dysgenesis without the phenotype of Turner’s syndrome is described as ‘pure’ and is not usually associated with other anomalies with the exception of the rare Perrault syndrome (46,XX-GD with sensori-neural deafness). We describe a girl in whom tall stature was a dominant feature.Case report: A girl was referred aged 15.6 years with primary amenorrhoea and slim build. Examination showed height 172.5 cm (+1.56 <s...

ea0027p74 | (1) | BSPED2011

Age at onset of inappropriate weight gain in Prader--Willi syndrome; an opportunity for obesity prevention

Abouof Noran , Shaikh M Guftar , Donaldson Malcolm

Background: Prader-Willi syndrome (PWS) results from loss of paternally imprinted gene(s) from the 15q 11-13 region and is characterised by weight faltering during early childhood due to hypotonia, followed by obesity due to onset of the hyperphagic phase.Aim of study: To determine the presence of an age zone during which excessive weight gain is particularly likely, in order to target counselling and dietary input.Method: Body mas...

ea0024p20 | (1) | BSPED2010

Retrospective analysis of patients with paediatric diagnosis of isolated growth hormone deficiency in a single centre from 1970–2000

Novikova E , Paterson W , Donaldson M

Introduction: Confirmation of permanent isolated growth hormone deficiency (IGHD) during childhood with subsequent adult transfer is important since such patients may benefit from adult GH replacement.Methods: A chance encounter with a former patient experiencing symptoms of adult GHD but untreated prompted us to review the final diagnosis and follow-up status of our GH-treated patients with IGHD between 1970 and 2000. Case records were examined for init...

ea0023oc3.2 | Oral Communications 3 | BSPED2009

Adrenal function in children and adolescents with Prader–Willi syndrome attending a single centre from 1991 to 2009

Connell Natalie , Donaldson Malcolm , Paterson Wendy

Introduction: There has recently been a suggested link between central adrenal insufficiency and the high rate of sudden death in children and adolescents with Prader–Willi syndrome (PWS). This finding has important implications for PWS management, since steroid cover could exacerbate the existing tendency towards obesity. We have retrospectively examined our data for both mortality and pituitary–adrenal axis status in subjects attending the dedicated PWS clinic at t...

ea0018p38 | (1) | MES2008

Rapid management of hypercalcaemic crisis: a multidisciplinary approach

Adjene Alero , Donaldson James , Steer Keith

A 69-year-old man with longstanding ulcerative colitis presented for annual review by the gastroenterologists. He complained of lower back pain for six months and a recent history of anorexia, constipation, thirst and urinary frequency.His serum calcium was 5.12 mmol/l, phosphate 1.77 mmol/l, urea 19.1 mmol/l and creatinine 252 μmol/l.He was admitted, rehydrated with 5 l of intravenous normal saline over 24 h and given pamidro...