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Adrenal Disease in Childhood. Clinical and Molecular Aspects
  1. T G Barrett

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    Editors Ieuan A Hughes, Adrian J L Clark. Basle: Karger. 2001. ISBN 1421/7082.

    A 10 year old boy has had type 1 diabetes for two years, with reasonable control. Over a few weeks he develops hypoglycaemic episodes, worse in the mornings, with vomiting. His insulin requirements are reduced, with no improvement. It turns out that his mother has autoimmune thyroid disease with premature ovarian failure and Addison disease. On short synacthen testing the boy has minimal cortisol responses.

    This is a scenario straight out of a BMJ “Lesson of the Week”, and reflects the pitfalls of ignoring adrenal disease in children. Indeed, on looking back at Douglas Hubble's Paediatric Endocrinology reference text of 1969, disorders of the adrenals were basically limited to congenital adrenal hyperplasia, Cushing syndrome, and Addison disease. The physiology of salt and water balance had been worked out, and steroid metabolism had established itself as a recognised branch of biochemistry. However, there was little understanding of the underlying mechanisms of disease.

    Tremendous progress has occurred over the last 10 years in molecular medicine, and Hughes' and Clark's book reflects this admirably. Under their editorship, they have invited contributors who are actively engaged in research to present the most up to date information on the genetics, protein chemistry, and biochemistry of adrenal disorders in children. This ranges from the latest advances in steroidogenic factor-1 (SF-1) and DAX-1 expression in adrenal development to the clinical features of children with cyclical Cushing syndrome and primary pigmented adrenocortical disease (PPNAD).

    Each chapter is laid out in a logical order, with clear figures and explanations of biochemical pathways. The review of Cushing syndrome and Addison disease places these conditions in a logical classification, and concentrates particularly on the most up to date molecular genetics. There is an informative discussion of familial autoimmune disease which classifies the family described above as multiple endocrine abnormalities type 2 (MEA 2). An excellent chapter on X linked adrenoleucodystrophy has a detailed section on clinical and therapeutic approaches to the management of these children, together with information on prenatal diagnosis. There is a useful contribution on defects of aldosterone biosynthesis, although it would have been helpful to refer in passing to the differential diagnosis of pseudohyperaldosteronism and the similarities in presentation. The chapter on 21-hydroxylase deficiency defects and their phenotype places the biochemical, molecular genetic, and differential diagnosis information together in an exemplary fashion. The discussion of prenatal mutation analysis and treatment brings this topic right up to date. This also introduces one of the current controversies in paediatric endocrinology, the safety of early glucocorticoid administration to pregnant mothers to reduce the degree of virilisation in affected female fetuses.

    This book will be an essential reference for scientists and clinicians who want the latest molecular genetic information on adrenal disorders, with enough clinical and biochemical data to put it into context. This is a useful contribution in a rapidly advancing field.

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