Differential Diagnosis for 18yo Female with Cortisol 5.2, DHEA 619, and Testosterone 58

• Single Most Likely Diagnosis
  • Congenital Adrenal Hyperplasia (CAH): This condition is characterized by an overproduction of androgens due to enzyme deficiencies in the adrenal glands. The elevated DHEA level is particularly suggestive of CAH, as it is a precursor to androgens and cortisol. The low cortisol level could indicate a deficiency in 21-hydroxylase, a common enzyme deficiency in CAH, leading to an accumulation of precursors like DHEA.
• Other Likely Diagnoses
  • Adrenal Tumor: An androgen-secreting adrenal tumor could explain the high levels of DHEA and testosterone. However, the cortisol level might be expected to be higher or more variable in such cases.
  • Polycystic Ovary Syndrome (PCOS): While PCOS can cause elevated testosterone levels, the significantly elevated DHEA level is less typical for PCOS, making it less likely but still a consideration due to the patient's age and sex.
• Do Not Miss Diagnoses
  • Cushing's Syndrome: Although the cortisol level is low, Cushing's syndrome due to an adrenal tumor or other causes could potentially present with variable cortisol levels, and the high DHEA and testosterone levels could be seen in some cases, especially with adrenal tumors.
  • Adrenal Insufficiency: The low cortisol level raises the possibility of adrenal insufficiency, which could be primary (e.g., Addison's disease) or secondary. The high DHEA level might be a compensatory response, but this diagnosis requires careful consideration and further testing.
• Rare Diagnoses
  • 17,20-Desmolase Deficiency: A rare form of CAH that affects the production of cortisol, aldosterone, and sex steroids, potentially leading to an accumulation of DHEA.
  • 3-Beta-Hydroxysteroid Dehydrogenase Deficiency: Another rare form of CAH that could result in elevated levels of DHEA and decreased production of cortisol and aldosterone.