Endocrine Abstracts

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...

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 ...

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...

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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...

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...

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...

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...

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, ...

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...