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MEDICAL MYSTERY FOR CHAPTER 13 HER STORY All her life, Barbara had been thin. But a year after giving birth to her second child, she started gaining weight rapidly. At first, she blamed it on her pregnancy, which had resulted in 35 unwanted pounds. But even when she cut back her calorie intake and started going to a gym 4 days a week, the weight piled on. At times, especially at night, she started feeling wired and had trouble falling asleep. She also noticed purplish stretch marks on her abdomen and thighs, which she blamed on the pregnancy. Her doctor had advised Barbara to lose weight. But the scale wouldn’t budge. Recently, she started feeling so fatigued that she couldn’t get out of bed. She had lost her sex drive completely. Overwhelmed, Barbara began to feel depressed and anxious, especially when she noticed hair growth on her chin. In addition, her skin was blotchy and red and prone to bruise easily. One day, when her toddler grabbed her arm, Barbara noticed purplish bruises shaped like her child’s fingerprints. That’s when she decided to go back to her doctor. The first thing the doctor detected was hypertension. He also measured Barbara’s levels of thyroid stimulating hormone (TSH), a hormone that increases in people who have hypothyroidism. The results, however, were normal. After Barbara described her failed weight-loss efforts, her physician referred her to our group, suspecting endocrinopathy. THE EVALUATION When I first saw Barbara, we had a long discussion about her recent battles with weight. I noticed that her weight was concentrated in her abdomen and that her arms and legs remained lean. In addition, Barbara had a “buffalo hump” on her upper back and a round face. She had trouble standing up from a squat. Between the physical exam and Barbara’s medical history, I began to suspect that Barbara had Cushing’s syndrome, a condition that occurs when the body is exposed to high levels of the hormone cortisol for long periods of time. The condition is also called hypercortisolism. It is more common in women than men and tends to occur between the ages of 20 and 50. The telltale signs are rapid and inexplicable onset of obesity, menstrual irregularities, acne, facial hair, trouble sleeping, and onset of depression. THE DIAGNOSIS To determine whether Barbara had Cushing’s syndrome, I had ordered three 24-hour urine tests, each of which involved collecting urine for an entire day. Her first test showed normal cortisol levels at 38 g/day. But her second and third cortisol levels came in at slightly above the 50 g/day, consistent with Cushing’s syndrome. Other blood, saliva, and urine tests also showed elevated cortisol levels. I needed to determine what was causing the excess cortisol. In some cases, Cushing’s can occur from long-term exposure to glucocorticoid hormones for medical conditions such as lupus, rheumatoid arthritis, or asthma. But since Barbara had none of these conditions and was not on any medications, I suspected she had a tumor on either her pituitary or adrenal glands. To find out for sure, I did a blood test measuring the hormone adrenocorticotropin (ACTH). It was slightly elevated, consistent with a pituitary tumor. If it was low, it would have meant she had an adrenal tumor. I then ordered a high-resolution dynamic MRI, which showed a small tumor on her pituitary. Pituitary tumors are the most common cause of Cushing’s syndrome and affect women five times more frequently than men. The tumor—usually, there is just one— is benign but does cause the pituitary gland to secrete too much ACTH, the hormone that stimulates the production of cortisol by the adrenal glands. THE TREATMENT Relieving Barbara of Cushing’s meant surgically removing the tumor in a procedure called transsphenoidal adenomectomy. The procedure is extremely delicate and involves reaching the pituitary gland through a nostril or an opening above the upper lip. More than 80% of all patients have success with this procedure, and Barbara was no exception. After the surgery, Barbara’s body immediately produced lower than normal levels of ACTH, which also reduced her cortisol levels. This was entirely expected as part of the treatment. To compensate for this temporary reduction, I gave Barbara hydrocortisone, which is a synthetic form of cortisol. I told her she would probably be able to stop taking this within a year. CASE CLOSED When I saw Barbara again 2 months later, she had dropped 10 pounds. Her blood pressure had stabilized, the stretch marks had vanished, and she was feeling much happier and less tired. She wanted to know when she’d lose the rest of the extra weight, and I advised her to be patient. I also told her to eat normal-sized portions of healthy foods and to try walking to build up her strength and energy. The combination, I assured her, would help her slim back down again as she recovered from her bout with Cushing’s. Discussion Questions 1. Why might Barbara’s doctor suspect hypothyroidism? Why was that not accurate? 2. Where are the adrenal glands located, and what do the adrenal glands do? 3. Barbara’s body had an excess of cortisol. What is the function of cortisol? 4. Use your knowledge of word parts to define a transsphenoidal adenomectomy.