adrenal glands not producing enough cortisol

Children can be initially mis-diagnosed as having sepsis, metabolic conditions, or cardiovascular disease, highlighting the need to consider adrenal dysfunction as a differential diagnosis for an unwell or deteriorating infant. AI is relatively rare in early life, affecting approximately 1:5,000–10,000 children, and its features can be non-specific. Reaching a specific diagnosis can have lifelong implications for focusing management in an individual, and for counseling the family about inheritance and the risk of recurrence.Īdrenal insufficiency (AI) is a potentially life-threatening condition that needs urgent diagnosis and treatment ( 1– 4).

Here, we provide an overview of causes of childhood AI, with a focus on genetic conditions that present in the first few months of life. Children who present with AI in early life can have signs of glucocorticoid deficiency (hyperpigmentation, hypoglycemia, prolonged jaundice, poor weight gain), mineralocorticoid deficiency (hypotension, salt loss, collapse), adrenal androgen excess (atypical genitalia), or associated features linked to a specific underlying condition.

Genetics & Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, London, United KingdomĪdrenal insufficiency (AI) is a potentially life-threatening condition that can be difficult to diagnose, especially if it is not considered as a potential cause of a child's clinical presentation or unexpected deterioration.McGlacken-Byrne, Ignacio del Valle and John C.

Adrenal glands not producing enough cortisol