Abstract
Adrenal 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. 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. 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. 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.
Highlights
Adrenal insufficiency (AI) is a potentially life-threatening condition that needs urgent diagnosis and treatment [1,2,3,4]
An overview of monogenic causes of primary adrenal insufficiency (PAI) in childhood is shown in Table 1 and Figures 1A,B, together with inheritance patterns and associated features
Boys with PAI and hypogonadotropic hypogonadism (HH) in adolescence almost invariably have X-linked AHC, especially if there is a family history of X-linked adrenal dysfunction. Even without such a history, we found that approximately 40% of boys presenting with salt-losing AI in the first two months of life had X-linked AHC, once more common conditions such as congenital adrenal hyperplasia (CAH) had been excluded [47]
Summary
Adrenal insufficiency (AI) is a potentially life-threatening condition that needs urgent diagnosis and treatment [1,2,3,4]. Isolated ACTH deficiency can occur due to disruption of TPIT (TBX19), or with associated features due to defects in pro-opiomelanocortin (POMC) or pro-hormone convertase-1 (PC-1/PCSK1). An overview of monogenic causes of primary adrenal insufficiency (PAI) in childhood is shown in Table 1 and Figures 1A,B, together with inheritance patterns and associated features.
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