Differential Diagnosis for Elevated DHEA-S and Elevated Cortisol

Single Most Likely Diagnosis

• Cushing's Syndrome: This condition, caused by excess cortisol, can also lead to elevated DHEA-S levels due to the adrenal gland's response to ACTH stimulation. It is a common cause of both elevated cortisol and DHEA-S.

Other Likely Diagnoses

• Adrenal Hyperplasia: Certain forms of congenital adrenal hyperplasia can lead to elevated levels of both cortisol and DHEA-S due to enzyme deficiencies that affect steroid hormone production.
• Adrenal Tumor: Benign or malignant tumors of the adrenal gland can produce excess cortisol and androgens like DHEA-S, leading to their elevated levels.
• Familial Cushing's Syndrome: Though less common, familial forms of Cushing's syndrome can present with elevated cortisol and DHEA-S levels due to genetic predispositions affecting the adrenal glands or the pituitary gland.

Do Not Miss Diagnoses

• Pheochromocytoma with Cushing's Syndrome: A rare tumor of the adrenal gland that can co-secrete cortisol and catecholamines, leading to a life-threatening condition if not promptly diagnosed and treated.
• Ectopic ACTH-producing Tumor: Tumors outside the pituitary gland can produce ACTH, leading to Cushing's syndrome. These can be aggressive and have a high mortality rate if not identified and treated early.

Rare Diagnoses

• 17,20-Desmolase Deficiency: A rare form of congenital adrenal hyperplasia that affects the production of cortisol, leading to an overproduction of DHEA-S.
• 3β-Hydroxysteroid Dehydrogenase Deficiency: Another rare form of congenital adrenal hyperplasia that can result in elevated DHEA-S and altered cortisol production.
• McCune-Albright Syndrome: A genetic disorder that can lead to Cushing's syndrome among other endocrine abnormalities, including elevated cortisol and potentially DHEA-S levels.