Current Screening Strategies for the Diagnosis of Adrenal Insufficiency in Children

Abstract

Adrenal insufficiency can arise from a primary adrenal disorder, secondary to adrenocorticotropic hormone deficiency, or by suppression of hypothalamic-pituitary-adrenal axis due to exogenous glucocorticoids. Diagnosis of adrenal insufficiency is usually delayed because the initial presentation is often subtle and nonspecific. Clinician awareness and recognition is crucial for timely diagnosis to avoid adrenal crisis. Current screening strategies for the diagnosis of adrenal insufficiency in children in various clinical situations are discussed in this review.

Keywords: adrenal gland; adrenal insufficiency; adrenocorticotrophic hormone; aldosterone; cortisol; fludrocortisone; glucocorticoids; hydrocortisone; renin.

Figure 1

Skin hyperpigmentation in primary adrenal insufficiency. (A) Hyperpigmentation at axillary and nipples in a 10-day-old male infant with salt-wasting congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (B) Skin hyperpigmentation in a 10-year-old Caucasian male with autoimmune adrenalitis (Addison’s disease).

Figure 2

Diagnostic approach for patients with suspected primary adrenal insufficiency.

Figure 3

Screening and assessment of recovery of the hypothalamic-pituitary-adrenal axis after corticosteroid withdrawal. After reaching half the physiologic dose of hydrocortisone (≤5 mg/m²/day), obtain morning serum cortisol to determine if daily and stress dose hydrocortisone can be discontinuation. *Serum cortisol cutoff values are assay dependent and may be lower with newer cortisol assays. Reprinted from Bowden SA, Connolly AM, Kinnett K, Zeitler PS. Management of adrenal insufficiency risk after long-term systemic glucocorticoid therapy in Duchenne muscular dystrophy: clinical practice recommendations. J Neuromuscular Dis. 2019;6(1):31–41, with permission from IOS Press. The publication is available at IOS Press through http://dx.doi.org/doi: 10.3233/JND-180346.