Differential Diagnosis for Elevated Testosterone and Amenorrhea in a Female

Single Most Likely Diagnosis

• Polycystic Ovary Syndrome (PCOS): This is the most common endocrine disorder in women of reproductive age, characterized by hyperandrogenism (elevated testosterone), ovulatory dysfunction (leading to amenorrhea), and polycystic ovaries. The symptoms presented are classic for PCOS.

Other Likely Diagnoses

• Androgen-Secreting Tumors: Although less common than PCOS, tumors of the ovaries or adrenal glands can produce androgens, leading to elevated testosterone levels and amenorrhea.
• Congenital Adrenal Hyperplasia (CAH): A group of inherited disorders that affect the adrenal glands, leading to an overproduction of androgens. Late-onset CAH can present with symptoms similar to PCOS, including hyperandrogenism and menstrual irregularities.
• Hyperprolactinemia: Elevated prolactin levels can disrupt the normal menstrual cycle, leading to amenorrhea. While it doesn't directly cause elevated testosterone, it can be associated with other endocrine abnormalities.

Do Not Miss Diagnoses

• Cushing's Syndrome: A rare endocrine disorder caused by excess cortisol, which can also lead to an increase in androgen production. It's crucial to diagnose due to its potential for serious complications if left untreated.
• Adrenal Cancer: Although rare, adrenal cancers can produce androgens, leading to symptoms like those presented. Early diagnosis is critical for treatment and prognosis.
• Pituitary Tumors: Certain pituitary tumors can affect hormone production, including those that regulate menstrual cycles and androgen levels. Missing this diagnosis could lead to significant morbidity.

Rare Diagnoses

• Gonadal Dysgenesis: Conditions like Swyer syndrome, where there is a failure in the development of the gonads, can lead to hormonal imbalances, including elevated testosterone in some cases, and amenorrhea.
• Idiopathic Hyperandrogenism: A condition characterized by elevated androgen levels without a clear cause, which can lead to symptoms similar to PCOS but without the polycystic ovaries.
• Testicular Feminization Syndrome (Complete Androgen Insensitivity Syndrome): A rare condition where an individual with XY chromosomes has a resistance to androgens, leading to a female phenotype but with testes instead of ovaries. This would typically be diagnosed earlier in life but could be considered in cases of primary amenorrhea.