Survey of congenital adrenal hyperplasia in the South West region of England 1968 - 1988 Analysis of the relationship between growth, glucocorticoid therapy, and capillary blood spot profiles of 17-hydroxyprogesterone

SIGLEAvailable from British Library Document Supply Centre-DSC:DXN003662 / BLDSC - British Library Document Supply CentreGBUnited Kingdo

Audit of initial management of congenital hypothyroidism in the United Kingdom--comparison of UK practice with European and UK guidelines

<p><b>BACKGROUND:</b> Prompt and adequate management of newly diagnosed congenital hypothyroidism (CH) has been shown to optimise intellectual outcome.</p> <p><b>METHODS:</b> A questionnaire survey of the British Society for Paediatric Endocrinology and Diabetes (BSPED) membership was undertaken, examining current clinical practice in neonatal CH. Results were compared with published management guidelines from Europe and the UK.</p> <p><b>RESULTS:</b> The response rate was 86%. The majority were largely compliant with both guidelines. 43% review newly referred infants on the day of notification. However, 26% treat severe CH with < 10 microg/kg/day thyroxine and nearly 20% do not follow up until at least 14 days after initiating treatment, in contrast to both guidelines. Despite a new liquid T4 preparation being licensed, respondents preferred tablet T4.</p> <p><b>CONCLUSION:</b> Rapidity of assessment and adequate follow up of suspected CH is critical to outcome. Existing European and UK guidelines should be reviewed and expanded to incorporate new evidence, together with increased advice on preparation and administration of T4.</p&gt

Practical endocrinology and diabetes in children, Third Edition

Practical Endocrinology and Diabetes in Children is the ideal bench-side companion for the practising paediatrician and endocrinologist, bridging the gap between large reference books and short reviews of aspects of endocrinology. This third edition contains a variety of new features such as key web links, guidelines, case studies illustrating diagnostic difficulties which will help all those studying for postgraduate examinations such as the MRCPCH. The book provides a highly clinical, concise and up-to-date account of paediatric endocrinology and diabetes in a clear and user friendly format. There are sections on how to deal with emergencies, as well as information on potential pitfalls, controversial areas and future developments. Practical Endocrinology and Diabetes in Children is an essential guide for trainee paediatricians, paediatric endocrinologists and diabetologists as well as diabetes and endocrinology nurse specialists

Ethinyl estradiol treatment for growth limitation in girls with Marfan's syndrome--experience from a single center

<p><b>OBJECTIVES:</b> Tall stature, a major characteristic of Marfan's syndrome, may be of concern to the family, particularly if the patient is a girl. Experience with treatment options-sex steroid or somatostatin analogue-for height reduction in girls is limited. We have evaluated our experience of estrogen treatment in girls with Marfan's syndrome attending the pediatric endocrine clinic in Glasgow between 1989 and 2005.</p> <p><b>DESIGN AND METHODS:</b> Retrospective case note analysis combined with ascertainment of final/near final height, comparing outcome in treated and untreated girls. Cardiovascular health was assessed by examining aortic root diameter and blood pressure.</p> <p><b>RESULTS:</b> The study cohort comprised four treated and five untreated girls, of whom three were sisters. Treatment was started in the four girls at chronological age 10.0 (2.1) years, mean (SD) height 155.0 (9.8) cm, and Tanner breast stage B1 in three and B2 in one. Ethinyl estradiol was administered in stepwise incremental regimens, starting at 10 microg/day and reaching 100 microg/day after 10 weeks in two girls and starting at 2 microg/day and reaching a maximum of 30-50 microg/day over a 2- to 3-year period in two girls. Mean +/- SD (range) final/near final height of the four treated girls was 174.3 (2.6) (170.6-176.6) cm compared with 183.0 (6.9) (171.5-190.3) cm in the five untreated girls. No deaths occurred in the treated group while one untreated girl died from presumed arrhythmia aged 18 years. Aortic root diameter increased with age, by mean (SD) 5.0 (2.1) and 5.8 (4.5) mm in treated and untreated groups, respectively, but with no between-group differences after treatment.</p> <p><b>CONCLUSIONS:</b> The estrogen doses used in this study are lower than in previous reports. The results, although unsuitable for statistical analysis due to small numbers, are encouraging with no adverse events being recorded. Future research should be multicenter in design.</p&gt

Hashimoto’s Thyroiditis in Down’s Syndrome: Clinical presentation and evolution

<i>Aim:</i> It was the aim of this study to describe the presentation and clinical course of Hashimoto’s thyroiditis (HT) in children with Down’s syndrome (DS) in 2 Scottish health regions. <i>Patients and Methods:</i> We retrospectively analysed clinical, biochemical and thyroid antibody status in 38 patients with DS with HT diagnosed from 1989 to 2004. <i>Results:</i> The sex distribution was similar (20 males, 18 females), with a median age of 12.3 years (range 2.1–17.7). Of the 38 patients reviewed, 29 were identified by screening. A goitre was present in 6/38 patients. Thyroid antibodies were positive in 36/38 patients, negative in 1/38, and data were unavailable for 1/38. At presentation, 37/38 patients were hypothyroid: 21/37 with compensated hypothyroidism (6 treated initially) and 16/37 with decompensated hypothyroidism (all treated). Of the 15/21 compensated patients who were untreated initially, only 3 remitted while 12 showed disease progression prompting treatment. In the decompensated group, 1/16 patient pursued a fluctuating course between hypo- and hyperthyroidism. The final patient, who was hyperthyroid at presentation, also showed marked fluctuation in thyroid function over a 5-year period. <i>Conclusion:</i> The natural history of HT in DS is unusual, with no female predominance and infrequent goitre in our cohort. While almost all patients required treatment eventually, clinicians should be aware that the disease may pursue a fluctuating course between hypo- and hyperthyroidism

Outcome in Scottish adults with congenital hypothyroidism born 1979-1989

Newborn screening for congenital hypothyroidism (CH) has been widely adopted as early detection and treatment of CH prevents the severe neuro-cognitive deficit found in untreated patients. Despite extensive research into IQ scores in CH during childhood there is little information on adult outcome in terms of pragmatic measures such as educational achievement, employment, residency and relationships. We present the results of a questionnaire-based study examining these outcome measures in Scottish adults born between 1979 and 1989, and diagnosed with permanent CH on newborn screening. The unaffected siblings of our patients served as controls, to counter socioeconomic confounders. Matched patient and sibling pairs were compared. Validated systems were used to score education and employment data. Where possible, responses were compared with population normative data. There were 155 eligible patients. 79 have returned questionnaires to date, together with 34 sibling controls. Median age (range) and sex ratio (M:F) of patients and siblings was 22 (17-28) and 21 (17-35) years and 1:3.6 and 1:0.9 respectively. Median (range) education score was 217 (0-373) and 233.5 (0-387) for patient and sibling groups respectively (p=0.3) and for paired patients and siblings was 175 (0-264) and 226.5 (0-264) respectively (p=0.7). Comparison of median (range) education scores in severe CH at diagnosis (total T4 < 43.0 nmol/L) with milder cases showed similar scores - 203 (0-330) versus 231 (0-373) respectively

Practical endocrinology and diabetes in children, Third Edition

Practical Endocrinology and Diabetes in Children is the ideal bench-side companion for the practising paediatrician and endocrinologist, bridging the gap between large reference books and short reviews of aspects of endocrinology. This third edition contains a variety of new features such as key web links, guidelines, case studies illustrating diagnostic difficulties which will help all those studying for postgraduate examinations such as the MRCPCH. The book provides a highly clinical, concise and up-to-date account of paediatric endocrinology and diabetes in a clear and user friendly format. There are sections on how to deal with emergencies, as well as information on potential pitfalls, controversial areas and future developments. Practical Endocrinology and Diabetes in Children is an essential guide for trainee paediatricians, paediatric endocrinologists and diabetologists as well as diabetes and endocrinology nurse specialists

Practical endocrinology and diabetes in children

This practical, highly clinical, concise, and up-to-date account of pediatric endocrinology and diabetes serves as a concise and convenient companion to more extensive textbooks. The third edition contains a variety of new features such as key web links, key guidelines and courses for endocrinologists and pediatricans, and five case studies per chapter illustrating diagnostic difficulties. Chapters include sections on how to deal with emergencies, potential pitfalls, guidelines on which conditions should be discussed with a specialist, controversial areas, and future developments