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?
AThyroidectomy
BUrine 5-HIAA
CUrine metanephrines
DMidnight salivary cortisol
ESerum gastrin
A 37-year-old woman comes to the physician for a 6-month history of headaches, anorexia, and vomiting. She has had a 10-kg (22-lb) weight loss during this period. She has type 1 diabetes mellitus for which she takes insulin. The patient's mother and sister have hypothyroidism. Her blood pressure is 80/60 mm Hg. Physical examination shows hyperpigmentation of the lips and oral mucosa. Serum studies show a parathyroid hormone level of 450 pg/mL and antibodies directed against 21-hydroxylase. Which of the following is the most likely diagnosis?
ASheehan syndrome
BMultiple endocrine neoplasia type 2A
CMultiple endocrine neoplasia type 2B
DAutoimmune polyendocrine syndrome type 1
EAutoimmune polyendocrine syndrome type 2
A 10-year-old boy is brought by his mother to his pediatrician for "skin growths." His mother reports that she started noticing small lumps arising from the patient's lips and eyelids several months ago. She also notes that he seems to suffer from frequent constipation and appears "weaker" than many of his peers. The boy's past medical history is unremarkable. His father and paternal grandmother have a history of medullary thyroid carcinoma. His height and weight are in the 85th and 45th percentiles, respectively. His temperature is 99°F (37.1°C), blood pressure is 110/65 mmHg, pulse is 90/min, and respirations are 18/min. On examination, he has an elongated face with protruding lips. There are numerous sessile painless nodules on the patient's lips, tongue, and eyelids. This patient's condition is most strongly associated with a mutation in which of the following genes?
ANF1
BMEN1
CRET
DNF2
Ec-KIT
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