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Difficulty: MediumEndocrinology and Metabolism

A genetics consultation service is reviewing several patient charts for familial endocrine disorders. Based on the clinical descriptions provided below, match each patient's presentation with the most likely underlying genetic syndrome.

  • A 28-year-old with recurrent calcium oxalate nephrolithiasis, refractory peptic ulcer disease, and bilateral temporal hemianopia.Multiple endocrine neoplasia type 1
  • A 35-year-old with episodic diaphoresis and tachycardia, elevated serum calcium, and a calcitonin-secreting thyroid nodule.Multiple endocrine neoplasia type 2A
  • A 19-year-old with a tall and slender build, painless submucosal nodules on the lips and tongue, and severe paroxysmal hypertension.Multiple endocrine neoplasia type 2B
  • A 12-year-old with chronic oral candidiasis, a positive Chvostek sign, and new-onset postural hypotension with generalized hyperpigmentation.Autoimmune polyendocrine syndrome type 1

Answer

Patient 1 matches with MEN 1; Patient 2 matches with MEN 2A; Patient 3 matches with MEN 2B; Patient 4 matches with Autoimmune polyendocrine syndrome type 1.
Each syndrome presents with a specific triad or cluster of clinical features. MEN 1 features parathyroid, pancreatic, and pituitary tumors. MEN 2A features medullary thyroid cancer, pheochromocytoma, and parathyroid hyperplasia. MEN 2B features medullary thyroid cancer, pheochromocytoma, mucosal neuromas, and marfanoid habitus. APS-1 features chronic mucocutaneous candidiasis, hypoparathyroidism, and Addison disease.

Step-by-Step Solution

1
Analyze Patient 1's symptoms of nephrolithiasis, peptic ulcer disease, and temporal hemianopia.
Identified as primary hyperparathyroidism, a gastrinoma, and a pituitary adenoma.
These three pathologies define the '3 Ps' (Parathyroid, Pancreas, Pituitary) of Multiple endocrine neoplasia type 1.
2
Evaluate Patient 2's symptoms of episodic tachycardia, hypercalcemia, and an elevated calcitonin level.
Identified as a pheochromocytoma, primary hyperparathyroidism, and medullary thyroid cancer.
This combination exactly matches the clinical triad of Multiple endocrine neoplasia type 2A.
3
Assess Patient 3's tall build, mucosal nodules, and paroxysmal hypertension.
Identified as marfanoid habitus, mucosal neuromas, and a pheochromocytoma.
These physical and clinical findings uniquely indicate Multiple endocrine neoplasia type 2B.
4
Review Patient 4's fungal infections, positive Chvostek sign, and hyperpigmentation.
Identified as chronic candidiasis, hypoparathyroidism, and primary adrenal insufficiency.
Recognizing this classic autoimmune destruction sequence points directly to Autoimmune polyendocrine syndrome type 1 (APS-1).

Key Concept

Clinical recognition of multiple endocrine neoplasia (MEN) syndromes and autoimmune polyendocrine syndromes based on combinations of distinct endocrine tumors and autoimmune diseases.
Estimated Time:1m 30s
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Topics

Endocrinology and Metabolism

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