Pseudohypoparathyroidism presents with which combination of features?

• A. Hypercalcemia and hyperphosphatemia
• B. Normal calcium with normal parathyroid hormone
• C. Short stature, developmental delay, and round facies
• D. Tall stature, autism

Answer: (C)

Pseudohypoparathyroidism is a state of end-organ resistance to parathyroid hormone. Because the body doesn’t respond to PTH, calcium tends to be low and phosphate high, despite elevated PTH levels. The associated physical pattern, known as Albright hereditary osteodystrophy, includes features like short stature, round facies, and developmental delay (often with brachydactyly). This combination—short stature, developmental delay, and round facies—fits the typical phenotype of PTH resistance best. The other options describe biochemical states or features that don’t align with this condition: hypercalcemia would be more typical of excess PTH action, normal calcium and PTH don’t reflect the resistance pattern, and tall stature with autism is unrelated to the characteristic PTH-resistant phenotype.