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Endocrine Abstracts (2010) 24 S1

BSPED2010 Speaker Abstracts CME session (6 abstracts)

Adrenal development, function and failure

John C Achermann


UCL Institute of Child Health, University College London, London, UK.


The human adrenal gland develops from around 4 weeks gestation and undergoes distinct changes throughout pre- and post-natal life. Defects in these processes can cause adrenal hypoplasia and result in adrenal insufficiency. Adrenal hypoplasia can be: i) secondary to abnormal pituitary function, ACTH synthesis or splicing; ii) the result of ACTH resistance (familial glucocorticoid deficiency; triple A syndrome); or iii) due to a primary defect in adrenal development itself (primary adrenal hypoplasia). Most causes of primary adrenal hypoplasia are X-linked and due to changes in the nuclear receptor DAX-1. Boys typically have salt-losing adrenal failure in early infancy or childhood and hypogonadotropic hypogonadism (HH) and impaired spermatogenesis in adolescence. Alternative presentations have now been reported including early puberty or adult-onset adrenal insufficiency. The molecular aetiology of X-linked AHC remains poorly understood as DAX-1 paradoxically represses transcription. However, transcriptional activation by DAX-1 may occur and adrenal stem cell development may be dysregulated. Other forms of primary adrenal hypoplasia may be due to defects in steroidogenic factor-1 (SF-1) or WNT4. In this session we will obtain insight into new aspects of adrenal development and function throughout the early lifespan; review some of the molecular causes of adrenal hypoplasia; and discuss the importance of these diagnoses for the paediatric endocrinologist.

Volume 24

38th Meeting of the British Society for Paediatric Endocrinology and Diabetes

British Society for Paediatric Endocrinology and Diabetes 

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