Endocrine Abstracts

Introduction: Despite extensive research into IQ scores in congenital hypothyroidism (CH) during childhood there is little information on adult outcome in terms of pragmatic measures such as educational achievement, employment, residency and relationships.Patients and methods: We present the results of a questionnaire-based study examining these outcome measures in Scottish adults with permanent CH born between 1979 and 1991. The unaffected siblings of o...

Calcitonin assays remain a key requirement for the diagnosis and monitoring of medullary thyroid carcinoma (MTC). Until recently calcitonin assays were mainly competitive radioimmunoassays (RIA) but there are now more specific immunometric assays (IMA) available. Cost and staffing pressures are emcouraging routine clinical chemistry laboratories to perform easier kit methodologies rather than refer samples to specialist centres. However, endocrine tumours are known to secrete ...

Aims: The aim of this study is to evaluate sitting height (SH) and leg length (LL) in girls with Turner syndrome.Methods: Retrospective study of SH and LL SDS, using SH–LL SDS (~0 in a proportionate child) as a measure of disproportion in 76 girls with Turner syndrome. Eligible girls were aged at least 4 years, had not started recombinant GH, and had no other chronic disease. 40 girls with measurements prior to pubertal induction and at adult height...

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...

A 65-year-old female, with a 4 month history of left upper quadrant discomfort, was identified as having a multi-loculated para-renal ‘cyst’ on ultrasound scanning. CT identified a 13×11×10 cm heterogeneous mass arising from the left adrenal. An enlarged ill-defined left retro-crural ‘lymph node’ was also noted. There was no history of weight loss. Past medical history was unremarkable. She was no medication. Examination was unremarkable apart fro...

Background: Premature infants are at risk of delayed screening for congenital hypothyroidism (CH), which may markedly affect initial treatment time and neurodevelopmental outcome. Rescreening preterm infants at four weeks (30 days) of life has been recommended to detect cases with delayed TSH elevation.Aim: To examine the performance of the CH screening programme in preterm infants aged ≤32 weeks in terms of timing of the initial Guthrie tests, and...

Introduction: The prevalence of congenital malformations (CM) in congenital hypothyroidism (CH) is higher than expected, particularly for cardiac malformations, but the published data vary considerably – from 2.4% to 24% – in different series.Methods: Using existing databases for CH and Scottish population statistics, we have retrospectively determined the prevalence of cardiac, non–cardiac and syndromic disorders in Scotland since the int...

Background: Primary hyperparathyroidism (PHPT) and familial hypercalcaemic hypocalciuria (FHH) can both present with hypercalcaemia, but their management and prognosis are quite distinct. The 24 h urine calcium: creatinine clearance ratio (CCCR) is used to distinguish FHH from PHPT, where patients with FHH have a CCCR of <0.01. This study compares the use of a spot urine sample to measure CCCR with the gold-standard 24-h urine CCCR.Objective: To eval...