Differential Diagnosis for 37 yo Female with High Testosterone and Normal LH and FSH

• Single Most Likely Diagnosis

  • Polycystic Ovary Syndrome (PCOS): This is the most common endocrine disorder in women of reproductive age and is often associated with hyperandrogenism (high testosterone levels), irregular menstrual cycles, and polycystic ovaries on ultrasound. Normal LH and FSH levels do not rule out PCOS, as the hormonal profile can vary.

• Other Likely Diagnoses

  • Idiopathic Hyperandrogenism: This condition is characterized by elevated androgen levels without any identifiable cause, such as PCOS, congenital adrenal hyperplasia, or androgen-secreting tumors. It's a diagnosis of exclusion.
  • Androgen-Secreting Adrenal Tumors: Although less common, tumors of the adrenal gland can produce excess androgens, leading to high testosterone levels. Normal LH and FSH levels might be seen as the tumor's androgen production suppresses gonadotropin release.
  • Hyperandrogenism due to Other Medical Conditions: Certain conditions like thyroid disorders, Cushing's syndrome (though this would more likely alter LH and FSH), and acromegaly can lead to elevated androgen levels.

• Do Not Miss Diagnoses

  • Androgen-Producing Ovarian Tumors: These are rare but can cause significant hyperandrogenism. Missing this diagnosis could lead to delayed treatment of a potentially malignant condition.
  • Cushing's Syndrome: While Cushing's syndrome more commonly presents with changes in cortisol levels affecting LH and FSH, some cases might have a more subtle presentation, and the diagnosis should not be missed due to its significant health implications.
  • Congenital Adrenal Hyperplasia (CAH): This is a group of inherited disorders that affect the adrenal glands, leading to impaired production of cortisol and aldosterone and an overproduction of androgens. Some late-onset forms might present with hyperandrogenism and relatively normal LH and FSH levels.

• Rare Diagnoses

  • Steroid Cell Tumors (not otherwise specified): These are rare sex-cord stromal tumors that can produce various steroids, including androgens.
  • Familial Hyperandrogenism: Some familial conditions can lead to hyperandrogenism without a clear underlying cause like PCOS or congenital adrenal hyperplasia.
  • Exogenous Androgen Use: Although not a medical condition per se, the use of anabolic steroids or other androgenic substances can lead to elevated testosterone levels and should be considered, especially if the clinical presentation is atypical for common diagnoses like PCOS.