Differential Diagnosis for a 29-year-old with Missed Period

The patient presents with a missed period, negative pregnancy tests, and symptoms of feeling low and stressed. The following differential diagnoses are considered:

• Single most likely diagnosis
  • Stress-induced amenorrhea: This condition is characterized by the cessation of menstruation due to stress, which can affect the hypothalamic-pituitary-adrenal axis, leading to hormonal imbalances that disrupt menstrual cycles. The patient's reported feelings of being "low and stressed" support this diagnosis.
• Other Likely diagnoses
  • Polycystic Ovary Syndrome (PCOS): Although the patient has had a missed period and negative pregnancy tests, PCOS is a common endocrine disorder that can cause irregular menstrual cycles, among other symptoms. It's essential to consider PCOS, especially if the patient has other signs such as hirsutism, acne, or obesity.
  • Thyroid dysfunction: Both hypothyroidism and hyperthyroidism can affect menstrual regularity. Thyroid disorders are relatively common and can present with non-specific symptoms, including mood changes, which the patient is experiencing.
  • Premature Ovarian Insufficiency (POI): Although less common in a 29-year-old, POI can occur at any age and is characterized by the loss of ovarian function, leading to amenorrhea. Family history, previous ovarian surgery, or chemotherapy could increase the likelihood of this diagnosis.
• Do Not Miss (ddxs that may not be likely, but would be deadly if missed.)
  • Pituitary tumor: A tumor in the pituitary gland can disrupt the normal production of hormones that regulate menstruation, leading to amenorrhea. Although rare, pituitary tumors can have significant health implications if not diagnosed and treated promptly.
  • Eating disorders: Conditions like anorexia nervosa can cause amenorrhea due to significant weight loss and hormonal imbalances. It's crucial to assess the patient's eating habits and body image concerns.
• Rare diagnoses
  • Asherman's syndrome: This condition involves the formation of adhesions or scar tissue in the uterus, often following uterine surgery, which can lead to amenorrhea. It's less common but should be considered if the patient has a history of uterine procedures.
  • Congenital adrenal hyperplasia: A group of inherited disorders that affect the adrenal glands, leading to an imbalance of hormones, which can disrupt menstrual cycles. This diagnosis is rare and typically presents at a younger age, but it cannot be entirely ruled out without further investigation.

Each of these diagnoses should be considered and investigated based on the patient's full medical history, physical examination, and additional diagnostic tests as necessary.