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WorksheetsPseudopseudohypoparathyroidism For Dummies
Total questions: 20
Worksheet time: 10mins
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
Which of the following is NOT a typical feature of Albright hereditary osteodystrophy?
Brachydactyly
Round face
Tall stature
Subcutaneous ossifications
Which of the following is the most appropriate long-term management strategy for a patient with pseudopseudohypoparathyroidism?
Regular monitoring for complications and supportive care
Lifelong calcium and vitamin D supplementation
Parathyroidectomy
High-dose corticosteroids
A patient with pseudopseudohypoparathyroidism is concerned about the risk of developing hypocalcemia. What should you advise?
Hypocalcemia is not expected; routine monitoring is sufficient
Immediate calcium supplementation is necessary
Hospitalization for intravenous calcium is required
Avoid all dairy products
Which of the following best explains why patients with pseudopseudohypoparathyroidism do not develop hypocalcemia?
They do not have end-organ resistance to PTH
They have increased PTH secretion
They have increased vitamin D absorption
They have decreased renal excretion of calcium
A 22-year-old woman with a family history of Albright hereditary osteodystrophy presents for genetic counseling. What is the most important factor in predicting whether her children will have pseudopseudohypoparathyroidism or pseudohypoparathyroidism?
Whether the GNAS mutation is inherited from the mother or father
The age of onset of symptoms
The presence of subcutaneous ossifications
The serum calcium level
A patient with pseudopseudohypoparathyroidism is planning to start a family. What genetic counseling advice should be provided regarding the risk to offspring?
The risk depends on the parent of origin of the GNAS mutation due to imprinting effects
All children will be affected
There is no risk to offspring
Only male children are at risk
A 19-year-old male with pseudopseudohypoparathyroidism is found to have subcutaneous ossifications and brachydactyly. His laboratory values are normal. What is the most appropriate next step in management?
Reassure and provide supportive care, with periodic monitoring
Start calcium and vitamin D supplementation
Refer for parathyroidectomy
Begin bisphosphonate therapy
A family pedigree shows several individuals with Albright hereditary osteodystrophy features but only those who inherited the mutation from their mother have hypocalcemia. What does this suggest about the underlying genetic mechanism?
Genomic imprinting of the GNAS gene
X-linked inheritance
Mitochondrial inheritance
Autosomal recessive inheritance
A patient with pseudopseudohypoparathyroidism is being followed for potential complications. Which of the following complications should be monitored for, despite normal calcium and phosphate levels?
Subcutaneous ossifications and skeletal abnormalities
Renal failure
Hyperthyroidism
Diabetes insipidus
A 25-year-old woman with pseudopseudohypoparathyroidism is concerned about her risk of developing hormone resistance in the future. What is the best explanation you can provide?
She is unlikely to develop hormone resistance because the mutation was inherited from her father, resulting in pseudopseudohypoparathyroidism
She will definitely develop hormone resistance as she ages
Hormone resistance is unrelated to the parent of origin
Hormone resistance only occurs in males
