Endocrine Abstracts

Background: Congenital adrenal hyperplasia (CAH) is a recessively inherited deficiency of cortisol production associated with life-threatening adrenal crisis, accelerated growth and excess virilising hormone production, which may result in girls being incorrectly assigned as boys at birth. Newborn screening for CAH has not been introduced in the UK, reflecting concerns about false positive diagnoses, as well as inconsistent information about disease frequency and severity. A n...

The impact of having a baby delivered with ambiguous genitalia should not be underestimated. In the UK congenital adrenal hyperplasia (CAH) secondary to 21-hydroxylase deficiency is the commonest cause of genital virilization of a genetic female. Affected females may require feminizing surgery in the first year of life, with further surgery often being necessary at the time of puberty. Advances in molecular genotyping in CAH have made early antenatal diagnosis possible and the...

Molecular genetics have yielded many advances in our understanding of endocrine processes. This is particularly true for the mechanisms regulating calcium homeostasis, and the relevance of this to the disorders associated with abnormalities of the extracellular calcium-sensing receptor (CaSR) will be reviewed. The human CaSR is a 1078 amino acid cell surface protein, which is predominantly expressed in the parathyroids and kidney, and is a member of the family of G protein-cou...

More children with cancer are being cured (overall survival is now ~80%) – but at what cost? Although very few new chemotherapeutic agents have been introduced into the treatment of childhood cancer in recent years, significant progress has been made in understanding the child’s response to treatment. Many patients are now ‘risk stratified’ – not only based on stage or subtype of disease, but also on response to initial therapy. This has allowed the id...

It has been estimated that by 2010 more than 1 in 600 adults will be survivors of childhood cancer. Multi-agent chemotherapy regimens, targeted and fractionated radiotherapy and individualised protocols to match disease stage, have all contributed to improved outcome. The greater numbers of survivors have focussed concerns on the associated long-term morbidity from cancer treatment and/or the previous malignant disease process itself. Although follow-up of survivors into adult...

Survival rates following childhood cancer have improved, but the prevalence of late-effects and possible length of life remaining, mean that questions have been raised about the quality of life (QOL) of survivors. Results from a wide range of studies suggest that QOL among survivors is generally as good, or sometimes better than that reported by the normal population, or healthy siblings. However, considerable variation has been noted, depending on type of cancer and treatment...

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We have been issued with the challenge of delivering structured education to our children and families, with much guidance on the standards we should be aiming to achieve. However translating that into effective educational packages that can be delivered by all centres is challenging, especially when operating within the constraints of staff resources, the need to deliver a clinical service and the lack of ‘teacher training’ opportunities for paediatric teams.<p ...

As medical science and technology have advanced health care delivery particularly in diabetes has struggled to provide consistent high quality care. The document ‘Making every child and young person with diabetes matter’ provides the overarching direction in which health care should move. The challenge now is to execute the task at the regional and local levels. Diabetes is a classic chronic disease that requires continuous monitoring/input, involves different specia...