Differential Diagnosis for a 32-year-old Woman with Infrequent Menstrual Periods, Fatigue, Hair Growth, and Unintentional Weight Gain

• Single Most Likely Diagnosis

  • Polycystic Ovary Syndrome (PCOS): This condition is characterized by irregular menstrual periods, hirsutism (hair growth on the chin and upper lip), and obesity. The presence of these symptoms, along with the physical exam findings of a loudness of face, dorsal, cervical fat pad, and mild protuberance of abdomen with muscle atrophy, strongly suggests PCOS. The syndrome is also associated with insulin resistance, which could contribute to the unintentional weight gain and fatigue.

• Other Likely Diagnoses

  • Hypothyroidism: This condition can cause fatigue, weight gain, and changes in menstrual regularity. Although less directly linked to hirsutism, hypothyroidism can contribute to overall metabolic changes that might exacerbate or mimic some symptoms of PCOS.
  • Cushing's Syndrome: Characterized by excess cortisol, this condition can lead to weight gain, particularly in the central part of the body, fatigue, and changes in menstrual cycles. The presence of a dorsal fat pad (buffalo hump) and cervical fat pad, along with the mild protuberance of the abdomen, could suggest Cushing's Syndrome. However, the hirsutism in Cushing's is less common and typically accompanied by other signs like purple striae and hypertension.
  • Hyperprolactinemia: Elevated prolactin levels can disrupt menstrual cycles, leading to infrequent periods, and can also cause fatigue and weight gain. However, hirsutism is not a primary symptom of hyperprolactinemia.

• Do Not Miss Diagnoses

  • Adrenal Tumor or Cancer: Although rare, an adrenal tumor secreting androgens could cause hirsutism and disrupt menstrual cycles. Similarly, a tumor secreting cortisol could lead to Cushing's Syndrome. These conditions are critical to diagnose early due to their potential for severe health consequences, including malignancy.
  • Pituitary Tumor (e.g., Prolactinoma): A pituitary tumor could cause hyperprolactinemia, leading to menstrual irregularities and potentially other symptoms like headaches or visual disturbances. Early diagnosis is crucial to prevent long-term complications, including vision loss.

• Rare Diagnoses

  • Congenital Adrenal Hyperplasia (CAH): A group of inherited disorders that affect the adrenal glands, CAH can lead to an overproduction of androgens, causing hirsutism and menstrual irregularities. However, this condition is typically diagnosed in infancy or early childhood.
  • Acromegaly: Caused by excess growth hormone, usually due to a pituitary tumor, acromegaly can lead to soft tissue swelling, joint pain, and changes in facial features. While it could potentially cause some of the symptoms described, it is less likely given the primary complaints and would typically be associated with more pronounced facial and bodily changes.