Congenital adrenal insufficiency is a potentially life-threatening condition that can present soon after birth in many different ways. The classic presentation is a salt-losing crisis due to mineralocorticoid insufficiency, often between a week and two of life, but babies with predominant glucocorticoid insufficiency can present with other features such as prolonged jaundice, hypoglycaemia and hyperpigmentation. Most children with congenital adrenal insufficiency present to emergency paediatric services and might initially be diagnosed with sepsis, renal or metabolic disease. Often specific investigations are not performed at the time, or are difficult to interpret once the child is established on steroid replacement treatment, so reaching a precise diagnosis in some children has been challenging. The International Classification of Paediatric Endocrine Diagnoses provides a useful overview of paediatric adrenal disorders many of which can present in early life. These include: i) various forms of congenital adrenal hyperplasia (StAR, CYP11A1, HSD3B2, CYP21A1, CYP17A1, CYP11B1, POR); ii) secondary forms of adrenal hypoplasia (e.g. isolated ACTH deficiency or multiple pituitary hormone deficiencies); iii) ACTH-resistance-like conditions (e.g. FGD (MC2R, MRAP), Triple A syndrome, and defects in NNT and MCM4); iv) primary adrenal hypoplasia (e.g. DAX-1/NR0B1, IMAGe syndrome); v) metabolic dysfunction (e.g. Smith-Lemli-Opitz); and vi) disorders predominantly associated with salt loss (e.g. mineralocorticoid resistance, mineralocorticoid deficiency (CYP11B2)). Many of these conditions have overlapping clinical and biochemical features and genetic approaches to diagnosis are proving invaluable in many cases. Establishing a specific diagnosis can be important for identifying associated features, tailoring treatment to an individual, establishing long-term prognosis, and identifying other family members at risk of developing adrenal insufficiency or of having affected children in the future. Several clinical examples will be presented to highlight how combining careful clinical assessment with endocrine tests and genetic analysis has altered our approach to management.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology