Endocrine Abstracts

Introduction: UK Screening for CHT was introduced in 1981 to facilitate early detection, treatment and prevent associated morbidity and mortality. Screening in the North East and Cumbria is coordinated by the XXXXXX. A locally defined threshold of TSH >6 mU/l constitutes a positive screening test in contrast to national guidance of > 10 mU/l. We explored the longer-term outcomes of infants identified by the screening programme.Aim: The aims of th...

Introduction: The use of haematopoietic stem cell transplantation (HSCT) as a curative therapy for life threatening immunodeficiency signalled a paradigm shift in clinical outcomes. However, a subset of patients may experience Thyroid Immune Reconstitution Inflammatory Syndrome (IRIS) following immune reconstitution. This is recognised in the adult population but has received little attention in the paediatric literature. We present, what we believe to be, the first case serie...

Introduction: Testotoxicosis and other causes of precocious puberty can result in compromised final adult height and various treatments have been used in an attempt to address this. We report final height data in children with testotoxicosis who were treated with a variety of regimens and who have attained/are predicted to attain, a final height in excess of the mid-parental target.Patients and methods: Growth data from four patients with activating muta...

Introduction: National Standards and Guidelines for referral of presumptive cases of congenital hypothyroidism (CHT) were developed in 2005 by the UK newborn bloodspot screening (NBS) programme centre (UKNSPC). The standards are being revised and NBS lab experience was explored as part of this process.Methods: A short questionnaire was circulated to all 16 UK NBS laboratories. The information requested included details of referral pattern in the event of...

Objective: Children with malignant disease are at increased risk of bone disorders, cardiovascular disease and further neoplasia. Vitamin D status may influence this risk and so we assessed Vitamin D levels in children with malignant disease undergoing active treatment or surveillance post-therapy.Study design: This was an outpatient-based cross-sectional study of 60 children with a history of malignancy (cases: median age 11.1 years; range 1.5–24.4...

Background: Radioiodine (RI) treatment of benign thyroid disease in young people has received a lot of attention recently with authorities in the US highlighting an encouraging short and medium term safety record. In this audit we surveyed treatment centres in the UK to assess the trend in RI administration in patients aged 21 years and under.Methods: Over sixty Medical Physics Departments, dispersed to represent a suitable geographical coverage pattern ...

5 α-reductase deficiency is a rare autosomal recessive condition of male psuedohermaphroditism, resulting from mutations of the type 2 isoenzyme 5 α-reductase, crucial in conversion of testosterone to dihydrotestosteroneCase report: Baby P is a full term baby, a product of a consanguineous marriage. The baby had ambigous genitalia with a clitoris, minimal glans tissue at the apex of the labial folds, gonads in the labioscrotal folds and a ureth...

Introduction: The biochemical diagnosis of hypophosphataemic rickets relies on measurement of tubular phosphate reabsorption. However, as the renal tubules are immature at birth and the reference range for urine phosphate excretion is not well defined in young children, there is uncertainty about how early in life a biochemical diagnosis of phosphate wasting can be made. In addition, the benefit of early treatment of hypophosphataemic rickets is unclear.<p class="ab...

Familial hypopituitarism is a heterogeneous group of disorders with variable clinical, biochemical and genetic characteristics. X-linked forms have been described in rare kindreds, though clinical and molecular features are not well defined. We present a case of X-linked hypopituitarism in a young male.The patient, currently 39 years, had an early course complicated by neonatal jaundice, seizures and subsequent failure to thrive. Hypothyroidism was diagn...

IntroductionChildren with growth hormone (GH) deficiency and primary/secondary hypoadrenalism are susceptible to hypoglycaemia pre-treatment but little is known about insulin sensitivity and hypoglycaemic susceptibility post-diagnosis.Methods12 children (10.1 plus/minus 4.2y; mean plus/minus 1SD) with pituitary hormone deficiency (5 GHD, 7 GH/cortisol insufficient - GHCD) and 7 (8.2 plus/minus 3.8y) with congenital adrenal hyperplasia (CAH) were studied after obtai...