What is the diagnostic and management approach for an 8-year-old boy with nocturia, hypoglycemia, and salt cravings?

From the Guidelines

The diagnostic and management approach for an 8-year-old boy with nocturia, hypoglycemia, and salt cravings should focus on evaluating for adrenal insufficiency, particularly congenital adrenal hyperplasia (CAH) or Addison's disease, as these conditions can significantly impact morbidity, mortality, and quality of life. The symptoms presented, including nocturia, hypoglycemia, and salt cravings, can be indicative of hormonal imbalances that need to be addressed promptly. Initial workup should include:

• Morning cortisol and ACTH levels to assess adrenal function
• Electrolytes to look for signs of hyponatremia and hyperkalemia
• Plasma renin activity to evaluate aldosterone production
• 17-hydroxyprogesterone to screen for congenital adrenal hyperplasia An ACTH stimulation test may be necessary to confirm the diagnosis of adrenal insufficiency 1. Treatment typically involves glucocorticoid replacement with hydrocortisone at 10-15 mg/m²/day divided into three doses, with the highest dose in the morning to mimic physiologic cortisol rhythm, and mineralocorticoid replacement with fludrocortisone (0.05-0.2 mg daily) if aldosterone deficiency is present. During illness or stress, the hydrocortisone dose should be doubled or tripled to prevent adrenal crisis. The child should wear a medical alert bracelet and caregivers should be trained to administer intramuscular hydrocortisone (50-100 mg) for emergency situations. Regular monitoring of growth, blood pressure, electrolytes, and plasma renin activity is essential to adjust medication doses and ensure the best possible outcome in terms of morbidity, mortality, and quality of life. This approach is supported by the need to manage diabetes and other metabolic disorders carefully, as outlined in standards of care 1, though the primary concern here appears to be adrenal insufficiency rather than diabetes management. The focus on adrenal insufficiency is due to its potential to cause the symptoms described and its significant impact on the patient's health if left untreated or improperly managed.

From the Research

Diagnostic Approach

• The diagnostic approach for an 8-year-old boy with nocturia, hypoglycemia, and salt cravings may involve investigating adrenal insufficiency, as these symptoms can be associated with the condition 2, 3, 4.
• Adrenal insufficiency is characterized by the inadequate secretion of glucocorticoid and/or mineralocorticoid secretion from the adrenal cortex, which can lead to non-specific symptoms such as hypoglycemia, hypotension, and electrolyte imbalances 2, 5.
• A low baseline cortisol level alongside raised adrenocorticotropic hormone (ACTH) can be enough to diagnose primary adrenal insufficiency, and confirmatory testing can be done using the cosyntropin (Synacthen®) stimulation test or the insulin tolerance test 2.

Management Approach

• The management approach for adrenal insufficiency involves glucocorticoid and mineralocorticoid replacement therapy, as well as patient education on dose adjustments during periods of stress and prevention of acute adrenal crisis 2, 5, 4.
• Recognizing hypoglycemia as a symptom of adrenal insufficiency is crucial to prevent treatable causes of sudden deaths, and strategies such as continuous glucose monitoring or modifying glucocorticoid replacement can be used to improve recognition and early prevention of hypoglycemia 3.
• Salt cravings can be a hallmark manifestation of primary adrenal insufficiency, particularly in patients with loss of zona glomerulosa function, which may precede zona fasciculata and reticularis deficiencies 4.

Clinical Features

• Clinical features of adrenal insufficiency can vary with age and etiology, and may include non-specific symptoms such as fatigue, weight loss, abdominal pain, melanoderma, hypotension, and salt craving 3, 4.
• Hypoglycemia can be a symptom of adrenal insufficiency, particularly in neonates, but also in older children and adults, and can be associated with signs of hypotension such as significant electrolyte imbalances and shock 3.
• Nocturia can be a symptom of adrenal insufficiency, possibly related to the disruption of the normal circadian rhythm of cortisol secretion or to the effects of hypoglycemia on renal function 4.