Endocrine

Question 1

• 45 y/o woman
• painless goiter
• low T3/4 and high TSH
• fatigue, wt gain, hyporeflexia, constipation, bradycardia, HTN

What would you see on biopsy of the goiter?
What is the patient at increase risk for?
What labs would you run to confirm diagnosis?

Answer 1

Dx: hashimoto thyroiditis

Biopsy: lymphocytic infiltrate w/ presence of germinal cells and cells w/ eosinophilic granular cytoplasm (Hurthle cells)

Increase risk for non-hodgkin B cell lymphoma

Labs: anti-TPO, anti-Thyroglobulin; anti-TSHr

Question 2

Cancers associated w/ MEN 1

Answer 2

Pancreatic: gastrinoma MC
Parathyroid
Pituitary: prolactinoma MC

Question 3

Cancers associated w/ MEN 2A

Answer 3

• pheochromocytoma
• medullary thyroid
• parathyroid

Question 4

Cancers assoc w/ MEN 2B

Answer 4

• pheochromocytoma
• medullary thyroid
• mucosal neuromas

Question 5

• family history of endometrial, ovarian, thyroid, and brain tumors
• currently has malignancy in her ascending colon
• there is a mutation in mismatch repair

Dx
Genes involved

Answer 5

HNPCC/ Lynch syndrome

HMSH2/1

Question 6

Effect of TSH on GH

Answer 6

Increases GH

Question 7

2 day old newborn w/

• dysmorphic facies develops a seizures
• labs: hypocalcemia
• susceptible to fungal and viral infections

Dx
Malformation of ?
PE
Mutation

Answer 7

DiGeorge syndrome

Malformation of : 3rd and 4th pharyngeal pouches

PE: absent parathyroid glands -> absence fo mature T cells -> immunodeficiency

Mutation: chromosome 22q11