Differential Diagnosis for High DHEA and Low Testosterone in a 39-year-old Woman
Single Most Likely Diagnosis
- Polycystic Ovary Syndrome (PCOS): This condition is characterized by hormonal imbalance, often presenting with high levels of androgens like DHEA and low levels of testosterone due to ovarian dysfunction. PCOS is a common endocrine disorder among women of reproductive age and can lead to irregular menstrual cycles, infertility, and excess androgen levels.
Other Likely Diagnoses
- Adrenal Hyperplasia: A group of inherited disorders that affect the adrenal glands, leading to an overproduction of androgens, including DHEA. This condition can cause an imbalance in hormone levels, including low testosterone.
- Cushing's Syndrome: Although more commonly associated with an overproduction of cortisol, some forms of Cushing's syndrome can lead to an increase in androgen production, including DHEA, and disrupt the normal production of other hormones like testosterone.
- Thyroid Dysfunction: Both hypothyroidism and hyperthyroidism can affect the balance of sex hormones, potentially leading to changes in DHEA and testosterone levels.
Do Not Miss Diagnoses
- Adrenal Tumor: A tumor in the adrenal gland can cause an excessive production of DHEA and potentially disrupt the normal balance of other hormones, including testosterone. Although rare, this condition requires prompt diagnosis and treatment.
- Congenital Adrenal Hyperplasia (CAH) - Late-Onset: While CAH is typically diagnosed in infancy, late-onset forms can present in adulthood with symptoms similar to PCOS, including hormonal imbalances.
Rare Diagnoses
- 17,20-Desmolase Deficiency: A rare genetic disorder affecting the production of sex hormones, potentially leading to unusual patterns of hormone imbalance, including high DHEA and low testosterone.
- 3-Beta-Hydroxysteroid Dehydrogenase Deficiency: Another rare genetic disorder that affects the synthesis of all steroid hormones, potentially causing a variety of hormonal imbalances, including those affecting DHEA and testosterone levels.