What is the diagnosis for a patient presenting with hyperpigmentation and hyponatremia (low sodium)?

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Last updated: May 22, 2025 • View editorial policy

Differential Diagnosis for Hyperpigmentation and Low Sodium

  • Single most likely diagnosis + Addison's disease: This condition is characterized by the inadequate production of cortisol and aldosterone, leading to hyperpigmentation and electrolyte imbalances, including low sodium levels. The hyperpigmentation is due to the increased levels of adrenocorticotropic hormone (ACTH), which stimulates melanin production.
  • Other Likely diagnoses + Congenital adrenal hyperplasia: This group of genetic disorders affects the adrenal glands, leading to an imbalance in hormone production. Some forms of congenital adrenal hyperplasia can cause hyperpigmentation and electrolyte disturbances, including low sodium levels. + Hypopituitarism: This condition involves the underproduction of hormones by the pituitary gland, which can lead to secondary adrenal insufficiency. Hyperpigmentation and low sodium levels can occur due to the decreased production of ACTH and other hormones. + Primary adrenal insufficiency (other than Addison's disease): Other causes of primary adrenal insufficiency, such as adrenal hemorrhage or infection, can also lead to hyperpigmentation and low sodium levels.
  • Do Not Miss diagnoses + Adrenal crisis: This is a life-threatening condition that requires immediate attention. It can occur in patients with adrenal insufficiency, including those with Addison's disease, and is characterized by severe hypotension, electrolyte imbalances, and hyperpigmentation. + Pheochromocytoma: Although less common, pheochromocytoma can cause hyperpigmentation and electrolyte disturbances, including low sodium levels, due to the excessive production of catecholamines.
  • Rare diagnoses + Nelson's syndrome: This rare condition occurs in some patients who have undergone bilateral adrenalectomy for Cushing's disease. It is characterized by aggressive pituitary tumors, hyperpigmentation, and electrolyte imbalances. + Ectopic ACTH-producing tumor: In rare cases, tumors outside the pituitary gland can produce ACTH, leading to Cushing's syndrome and, in some cases, hyperpigmentation and low sodium levels. + Familial glucocorticoid deficiency: This rare genetic disorder affects the production of cortisol, leading to hyperpigmentation and electrolyte disturbances, including low sodium levels.

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