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


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...

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...

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...

ea0030oc2.10 | Oral Communications 2 | BSPED2012

When is it justifiable to await venous thyroid function tests before starting thyroxine treatment in infants referred with capillary TSH elevation?

Pokrovska Tzveta , Jones Jeremy , Shaikh Guftar , Donaldson Malcolm

Background: In Scotland median age at notification with elevated capillary (c) TSH (>25 initially or >8 μ/l on repeat testing) is 10 (range 3–35) days. If cTSH elevation is >100 μ/l decompensated hypothyroidism (moderate: free (f) T4 5 −<10, severe: <5 pmol/l) is likely and thyroxine treatment should start without delay. If TSH elevation is mild the clinician may prefer to wait for venous (v) fT4 result and observe the infant’s pro...

ea0028p51 | Clinical practice/governance and case reports | SFEBES2012

Audit of outcome of childhood onset growth hormone deficiency in young adults at the Royal Hospital for Sick Children, Yorkhill, Glasgow from 2005–2011.

Ahmid Mahjouba , Perry Colin , Donaldson Malcolm , Ahmed Syed , Shaikh M

Background: GH therapy in adolescents with childhood onset GH deficiency (CO-GHD) is often necessary to prevent adult GHD syndrome. This requires re-evaluation of the GH axis on attainment of final height.Aim: Retrospective review of outcome in young adults diagnosed with CO-GHD Design: Clinical details were collected on young adults with CO-GHD patients between 2005 and 2011 at one tertiary centre. Result: 62 former CO-GHD patients, 40 male: 22 female, ...

ea0027p58 | (1) | BSPED2011

Effect of diagnosing coeliac disease and instituting a gluten-free-diet on glycaemic control in asymptomatic children with type 1 diabetes mellitus

Sherif Marwan A A , Allison Gavin , Robertson Kenneth , Donaldson Malcolm D C

Background: Coeliac disease (CD) is common in children with type 1 diabetes mellitus, so that CD screening of all asymptomatic diabetic children is carried out in many medical centres. While introduction of a gluten-free diet (GFD) might improve glycaemic control, the burden of two dietary regimes could adversely affect compliance.Aim: To assess the short-term effect of the diagnosis and treatment of asymptomatic CD detected by screening on diabetic cont...