Multiple endocrine neoplasia syndromes — MCQs

A 27-year-old man comes to the physician because of worsening abdominal pain over the last several months. He has also had recent feelings of sadness and a lack of motivation at work, where he is employed as a computer programmer. He denies suicidal thoughts. He has a history of multiple kidney stones. He has a family history of thyroid cancer in his father and uncle, who both underwent thyroidectomy before age 30. His temperature is 37°C (98°F), blood pressure is 138/86 mm Hg, and pulse is 87/min. Physical examination shows diffuse tenderness over the abdomen and obesity but is otherwise unremarkable. Serum studies show: Na+ 141 mEq/L K+ 3.6 mEq/L Glucose 144 mg/dL Ca2+ 12.1 mg/dL Albumin 4.1 g/dL PTH 226 pg/mL (normal range 12–88 pg/mL) Results of a RET gene test return abnormal. The physician refers him to an endocrine surgeon. Which of the following is the most appropriate next step in diagnosis?

A 16-year-old boy is brought to the emergency department after losing consciousness. He had no preceding chest pain or palpitations. His father has cataracts and had frontal balding in his twenties but has no history of cardiac disease. His paternal grandfather also had early-onset balding. His pulse is 43/min. Physical examination shows frontal hair loss, temporal muscle wasting, and testicular atrophy. Neurologic examination shows bilateral foot drop and weakness of the intrinsic hand muscles. An ECG shows bradycardia with third-degree atrioventricular block. The severity of this patient's symptoms compared to that of his father is most likely due to which of the following genetic properties?

A 30-year-old man presents to his primary care physician for a routine check-up. During the appointment, he remarks that he has started noticing some thinning and hair loss without other symptoms. The physician reassures him that he is likely experiencing male-pattern baldness and explains that the condition is largely inherited. Specifically he notes that there are multiple genes that are responsible for the condition so it is difficult to predict the timing and development of hair loss. What genetic principle is being illustrated by this scenario?

A 45-year-old woman comes to see you for a second opinion regarding an upcoming surgery for pancreatic insulinoma. While taking a surgical history, she tells you she previously had a pituitary tumor resected. For which additional neoplasms might you consider testing her?

A 31-year-old man comes to the physician because of worsening abdominal pain, an inability to concentrate at work, and a general lack of motivation over the past several months. He has a history of spontaneous passage of two kidney stones. His father and uncle underwent thyroidectomy before the age of 35 for thyroid cancer. Physical examination shows diffuse tenderness over the abdomen. Serum studies show: Na+ 142 mEq/L K+ 3.7 mEq/L Glucose 131 mg/dL Ca2+ 12.3 mg/dL Albumin 4.1 g/dL Parathyroid hormone 850 pg/mL Further evaluation is most likely to show elevated levels of which of the following?

A 47-year-old woman complains of weight gain and irregular menses for the past 2 years. She has gained 13 kg (28.6 lb) and feels that most of the weight gain is in her abdomen and face. She has type 2 diabetes and hypertension for 1 year, and they are difficult to control with medications. Vital signs include a temperature of 36.9°C (98.4°F), blood pressure of 160/100 mm Hg, and pulse of 95/min. The patient's late-night salivary cortisol is elevated. Morning plasma ACTH is high. Brain magnetic resonance imaging shows a 2 cm pituitary adenoma. Which of the following is the optimal therapy for this patient?

A 21-year-old male college student is very anxious about having thyroid cancer as he found a lump in his neck a few days ago. He has also had diarrhea and a feeling of warmth on his face for 3 days now. His father and uncle both have been diagnosed with thyroid cancer. The lump is about 1 cm in diameter and is fixed and nontender on palpation. Physical examination is otherwise unremarkable. Ultrasound shows a non-cystic cold nodule that requires fine needle aspiration for diagnosis. Thyroid functions tests are normal, and his calcitonin level is 346 ug/ml. Which of the following genetic mutations would warrant thyroidectomy in this patient?

A 67-year-old woman with tertiary hyperparathyroidism and end-stage renal disease on hemodialysis has persistent hypercalcemia (calcium 12.8 mg/dL) despite maximal medical management with cinacalcet and vitamin D restriction. She has severe pruritus, calciphylaxis, and vascular calcifications. All four parathyroid glands are enlarged on imaging. Evaluate the optimal surgical strategy considering her complex medical status and need for ongoing dialysis access.

A 30-year-old man presents with a 6 cm adrenal mass discovered incidentally. Biochemical workup shows elevated 24-hour urine metanephrines and plasma free metanephrines. He also has elevated serum calcium, PTH, and a pancreatic head mass on CT. Genetic testing confirms MEN 2B syndrome. Evaluate the management priorities and sequencing of interventions.

A 38-year-old woman with primary hyperparathyroidism (calcium 11.8 mg/dL, PTH 185 pg/mL) has negative sestamibi scan and ultrasound. She desires surgical cure and has no medical contraindications. She has a Z-score of -2.8 on DEXA scan and a history of recurrent kidney stones. Evaluate the surgical approach and expected outcomes.