Pseudopseudohypoparathyroidism For Dummies

Which gene is most commonly mutated in pseudopseudohypoparathyroidism?

• GNAS

• PTH

• CALCA

• FGFR3

What is the inheritance pattern of pseudopseudohypoparathyroidism?

• Autosomal dominant

• Autosomal recessive

• X-linked dominant

• Mitochondrial

Which of the following is a classic physical feature of pseudopseudohypoparathyroidism?

• Shortened fourth and fifth metacarpals

• Tall stature

• Macroglossia

• Webbed neck

Which laboratory finding is typically normal in pseudopseudohypoparathyroidism?

• Serum calcium

• Serum phosphate

• Parathyroid hormone (PTH) levels

• Serum magnesium

What is the main difference between pseudopseudohypoparathyroidism and pseudohypoparathyroidism?

• Presence of hormone resistance in pseudohypoparathyroidism

• Different gene mutations

• Different inheritance patterns

• Only pseudopseudohypoparathyroidism affects children

A patient with pseudopseudohypoparathyroidism is most likely to have which of the following?

• Normal serum calcium and phosphate levels

• Hypocalcemia and hyperphosphatemia

• Hypercalcemia and hypophosphatemia

• Low PTH levels

Which of the following best describes the genetic mechanism underlying pseudopseudohypoparathyroidism?

• Imprinting defect of the GNAS gene

• Deletion of the PTH gene

• Duplication of chromosome 21

• Mutation in the vitamin D receptor gene

A 20-year-old patient presents with short stature, round face, and shortened metacarpals but normal calcium and phosphate levels. Which diagnosis is most likely?

• Pseudopseudohypoparathyroidism

• Pseudohypoparathyroidism

• Hypoparathyroidism

• Hyperparathyroidism

Which clinical feature would help distinguish pseudopseudohypoparathyroidism from pseudohypoparathyroidism?

• Absence of biochemical evidence of PTH resistance

• Presence of Albright hereditary osteodystrophy

• Short stature

• Obesity

A family has several members with Albright hereditary osteodystrophy features but normal calcium metabolism. What is the most likely explanation?

• Pseudopseudohypoparathyroidism due to paternal inheritance of GNAS mutation

• Pseudohypoparathyroidism due to maternal inheritance of GNAS mutation

• Vitamin D deficiency

• X-linked hypophosphatemia