GENERAL - Endocrine

Question 1

A patient is in for her annual physical. Her physician palpates a thyroid nodule. Her thyroid hormone levels are wnl.

1. Likely diagnosis
2. Dx
3. Tx

Answer 1

1. Likely benign
   Could be cancer, but low incidence
2. Dx:
   FNA: benign, malignant, intermediate
3. Tx
   “Benign” on FNA: follow without intervention
   “Malignant” or “indeterminate” on FNA
   –> thyroid lobectomy
   –> further surgery determined by histologic dx
   —–total thyroidectomy in follicular cancers so that radioactive iodine can be used in the future to treat any bloodborne mets

Question 2

A patient complains of palpatations and hyperactivity. She also thinks she must be going through menopause because she always feels hot and sweaty. She notes with pride that she has lost weight, despite increased eating. On exam, her doctor finds a thyroid nodule. Her labs include a low TSH and high T4.

1. Likely diagnosis
2. Dx
3. Tx

Answer 2

1. Likely hyperfunctioning thyroid (“hot adenoma”)
   Almost never cancer
   Hyperthyroid sxs:
   -weight loss despite ravenous appetite
   -palpitations, tachycardia, sometimes AFib/flutter
   -heat intolerance, moist skin
   -fidgety and hyperactive behavior
2. Dx:
   Labs: low TSH (thyrotropin), high T4 (thyroxine)
   Nuclear scan: show if nodule is source
3. Tx:
   Usually radioactive iodine
   If “hot adenoma” may have surgical excision of affected lobe

Question 3

A patient presented to the ED for flank pain and bloody urine and was found to have kidney stones. The next week she follows up with her PCP. The patient has passed the stone and feels well now, except for some fatigue, muscle soreness, and occasional nausea and constipation. Her doctor notes in her records that her calcium was elevated on the CBC ordered in the ED.

1. Likely diagnosis
2. Dx
3. Tx

Answer 3

1. Primary hyperparathyroidism (90% single adenoma)
   - usually dx after incidental discovery of high Ca2+
   - less commonly presents with classic “disease of stones, bones, abdominal groans” (kidney stones, bone pain, n/v, constipation, decreased appetite)
   - other possible s/sx: weakness, fatigue, myalgias, polyuria, polydipsia, cognitive impairment
2. Dx:
   Repeat high calcium + low phosphorus
   Look for bone mets
   If persistent, determine PTH (interpret in light of serum Ca - should be low if Ca high and vice versa)
   Sestamibi scan: help locate culprit gland for surgery
3. Tx:
   Asymptomatic patients become sympatomatic at rate of 20% a year –> elective intervention
   Removal is curative

Question 4

A obese woman with PMHx of diabetes and HTN presents with a fragility fracture. She had visited your office a few years ago and you glance through her EMR before entering the room. You do a double take. Her appearance is strikingly different than the picture– she is has a round ruddy face, which sits forward on a hump of a neck. Her upper lip is rimmed hair. Her abdomen is covered in stria and remarkably obese compared to her thin extremities.

1. Likely diagnosis
2. Dx
3. Tx

Answer 4

1. Cushing’s syndrome
   - round, ruddy, hairy face
   - buffalo hump and supraclavicular fat pads
   - obese trunk with abdominal stria
   - thin weak extremities and osteoporosis
   - diabetes & HTN
   - mental instability
2. Dx:
   Overnight low-dose dexamethasone suppression test
   –suppression at low dose rules out disease (just fat & hairy)
   –no suppression, move on to…
   24-hour urine-free cortisol
   –if elevated, move on to…
   High dose suppression test
   –suppression indicates pituitary microadenoma
   –no suppression indicates adrenal adenoma or paraneoplastic syndrome
   Appropriate imaging studies
   –MRI: pituitary adenoma
   –CT: adrenal adenoma
   may also diagnose via 24hr urinary free cortisol at 3-4x normal + distinguish pituitary vs adrenal adenoma based on corticotropin measurement

Tx:
Remove offending adenoma

Question 5

A woman is at her wits end. Her peptic ulcer disease is refractory to all usual therapy, including eradication of H. pylori. She has multiple ulcers. Her pain is becoming unbareable and, on top of it all, she has lots of diarrhea.

1. Likely diagnosis
2. Dx
3. Tx

Answer 5

1. Zollinger-Ellison syndrome (gastrinoma)
   - virulent peptic ulcer disease, resistant to all usual therapy (including H. pylori eradication)
   - more extensive ulcers than expected (multiple ulcers, ulcers beyond 1st portion of duodenom)
   - +/- watery diarrhea
2. Dx:
   Measure gastrin (+ secretin if equivocal values)
   CT w/contrast of pancreas & surroundings to locate tumor
3. Tx:
   Remove tumor
   Omeprazole may help those w/metastatic dz

Question 6

A woman comes in due to a seizure-like episode. You had seen her recently in the office with her mother, whom she cares for and who is an insulin-dependent diabetic with multiple complications. Before the seizure, the woman had been having episodes of palpatations, sweating, recurrent headaches, lethargy, and blurred vision. She said these symptoms usually occurred when she hadn’t had anything to eat for a while.

1. Potential diagnoses
2. Etiology
3. Dx
4. Tx

Answer 6

1. Hyperinsulinemia
   CNS sxs b/c of low blood sugar
   -Recurrent headache, lethargy, diplopia, & blurred vision
   -If severe hypoglycemia – seizures, coma, and permanent neurological damage possible
   -Less commonly, catecholaminergic response to hypoglycemia (i.e. tremulousness, palpitations, tachycardia, sweating, hunger, anxiety, nausea)
   - Occasionally, sudden weight gain
2. Etiology
   Insulinoma
   –sxs ~always after fasting or with exercise
   Self-administration of insulin or insulin secretagogues (sulfonylureas, glinides)
   –connection to theses medicines (family member, connection to health care)
3. Dx:
   Insulinoma:
   –high insulin, high C-peptide
   –CT w/contrast of pancreas to locate tumor
   Exogenous insulin
   –high insulin, low C-peptide
   Exogenous secretagogues (sulfonyureas, glinides)
   –high insulin, high C-peptide (drug stimulates endogenous insulin secretion)
   –must check drug levels in work up
4. Tx:
   Insulinoma: remove tumor

Question 7

A LGA newborn is lethargic and found to have hypoglycemia. Despite frequent feedings, he continues to have severe symptomatic hypoglycemia and is put on unusually high levels of IV glucose. His serum insulin, C-peptide and proinsulin levels are all elevated.

1. Likely diagnosis
2. Dx
3. Tx

Answer 7

1. Nesidioblastosis (congenital hyperinsulinism)
   devastating hypoglycemia in a newborn
2. Labs mentioned
   PET scan
3. 95% to total pancreatectomy

Question 8

A patient with a PMHx of mild diabetes presents presents to the dermatologist with a blistering red macular rash with crusting vesicles across his extremities. No therapies given by his PCP have seemed to work on it. He also has a painful swollen mouth and tongue. He has no GI complaints. His zinc levels and LFTs are wnl, but is slightly anemic.

1. Likely diagnosis
2. Dx
3. Tx

Answer 8

1. Glucagonoma with severe migratory necrolytic dermatitis
   - red blistering rash usually on extremities & mouth (with stomatitis, glossitis) refractory to all treatments
   - in patient with mild diabetes & slight anemia
2. Dx:
   Glucagon assay
   CT to locate tumor
3. Tx:
   Resection curative
   Somatostatin & streptozocin for metastatic, inoperable dz