Endocrine Abstracts

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...

The spectrum of thyroid problems seen in paediatric endocrine practice is different to that seen in later life. Topics that have attracted particular interest include the HPT axis in pre-term infants, the significance of a subtle increase in TSH, and associations between thyroid function in childhood and risk of disease in later life. This talk will include lessons learnt from patients seen in North–East England and from studies conducted in the same locality.<p class...

Introduction: Children with pseudohypoparathyroidism (PHP) can have a broad range of phenotypic features and biochemical abnormalities. The heterogeneity of this patient group prompted us to review the clinical features of these children in our service.Methods: We recorded the mode of presentation, clinical features, growth pattern, biochemical profile and progress of 13 paediatric patients with PHP and hypocalcaemia under review in our service over a 11...

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...

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...

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Introduction: Studies have reported a rising incidence of congenital hypothyroidism (CHT) although the pathophysiology of most cases is unknown. A rising incidence is not simply a reflection of changing assay methodology and environmental factors may have an aetiological role. If so, then cases may exhibit space-time clustering, where cases occur at similar times and close proximities to other cases.Methods: We investigated whether there is evidence of s...