10.Metabolic_Diseases_Tests Flashcards
(20 cards)
A child presents with short stature and disproportionately short limbs.
Which of the following diagnoses best fits this presentation?
A. Achondroplasia
B. Pituitary Dwarfism
C. Gigantism
D. Acromegaly
A - Achondroplasia: short-limbed dwarfism
A teenager shows delayed growth and low IGF-1 despite normal nutrition.
Which of the following diagnoses best fits this presentation?
A. Gigantism
B. Pituitary Dwarfism
C. Acromegaly
D. Primary Hypothyroidism
B - Pituitary Dwarfism: growth hormone deficiency
A boy exhibits rapid linear growth and increased height before puberty.
Which of the following diagnoses best fits this presentation?
A. Acromegaly
B. Primary Hypothyroidism
C. Gigantism
D. Secondary Hypothyroidism
C - Gigantism: excess growth hormone before epiphyseal closure
An adult complains of enlarged hands and feet with coarsened facial features.
Which of the following diagnoses best fits this presentation?
A. Primary Hypothyroidism
B. Secondary Hypothyroidism
C. Graves’ Disease
D. Acromegaly
D - Acromegaly: excess growth hormone after epiphyseal closure
A patient has fatigue, weight gain, and cold intolerance with high TSH.
Which of the following diagnoses best fits this presentation?
A. Primary Hypothyroidism
B. Secondary Hypothyroidism
C. Graves’ Disease
D. Plummer’s Disease
A - Primary Hypothyroidism: thyroid gland failure
A patient shows low TSH and low T4 levels indicating central thyroid failure.
Which of the following diagnoses best fits this presentation?
A. Graves’ Disease
B. Secondary Hypothyroidism
C. Plummer’s Disease
D. Hypoparathyroidism
B - Secondary Hypothyroidism: pituitary gland failure
A young woman has exophthalmos, heat intolerance, and suppressed TSH.
Which of the following diagnoses best fits this presentation?
A. Plummer’s Disease
B. Hypoparathyroidism
C. Graves’ Disease
D. Primary Hyperparathyroidism
C - Graves’ Disease: autoimmune hyperthyroidism
An older patient presents with nodular thyroid enlargement and hyperthyroid symptoms.
Which of the following diagnoses best fits this presentation?
A. Hypoparathyroidism
B. Primary Hyperparathyroidism
C. Secondary Hyperparathyroidism
D. Plummer’s Disease
D - Plummer’s Disease: toxic nodular goiter
A patient has muscle cramps and numbness with low calcium levels post-thyroidectomy.
Which of the following diagnoses best fits this presentation?
A. Hypoparathyroidism
B. Primary Hyperparathyroidism
C. Secondary Hyperparathyroidism
D. Hypophosphatasia
A - Hypoparathyroidism: low parathyroid hormone
A patient has kidney stones and bone pain with elevated PTH and calcium.
Which of the following diagnoses best fits this presentation?
A. Secondary Hyperparathyroidism
B. Primary Hyperparathyroidism
C. Hypophosphatasia
D. Osteomalacia
B - Primary Hyperparathyroidism: parathyroid adenoma
A patient with chronic kidney disease shows secondary bone changes and high PTH.
Which of the following diagnoses best fits this presentation?
A. Hypophosphatasia
B. Osteomalacia
C. Secondary Hyperparathyroidism
D. Rickets
C - Secondary Hyperparathyroidism: renal failure-induced
An infant shows poor bone mineralization and low alkaline phosphatase activity.
Which of the following diagnoses best fits this presentation?
A. Osteomalacia
B. Rickets
C. Primary Osteoporosis
D. Hypophosphatasia
D - Hypophosphatasia: alkaline phosphatase deficiency
An adult has bone pain and muscle weakness with low vitamin D levels.
Which of the following diagnoses best fits this presentation?
A. Osteomalacia
B. Rickets
C. Primary Osteoporosis
D. Secondary Osteoporosis
A - Osteomalacia: vitamin D deficiency in adults
A child presents with bowed legs and frontal bossing on exam.
Which of the following diagnoses best fits this presentation?
A. Primary Osteoporosis
B. Rickets
C. Secondary Osteoporosis
D. Osteopetrosis
B - Rickets: vitamin D deficiency in children
An elderly woman has vertebral compression fractures without other disease.
Which of the following diagnoses best fits this presentation?
A. Secondary Osteoporosis
B. Osteopetrosis
C. Primary Osteoporosis
D. Osteogenesis Imperfecta
C - Primary Osteoporosis: age-related bone loss
A patient on glucocorticoids develops low bone density and fractures.
Which of the following diagnoses best fits this presentation?
A. Osteopetrosis
B. Osteogenesis Imperfecta
C. Paget’s Disease
D. Secondary Osteoporosis
D - Secondary Osteoporosis: disease or medication-induced
A patient has overly dense bones and frequent fractures due to osteoclast failure.
Which of the following diagnoses best fits this presentation?
A. Osteopetrosis
B. Osteogenesis Imperfecta
C. Paget’s Disease
D. Cherubism
A - Osteopetrosis: defective osteoclast resorption
A child exhibits brittle bones and blue sclerae since birth.
Which of the following diagnoses best fits this presentation?
A. Paget’s Disease
B. Osteogenesis Imperfecta
C. Cherubism
D. Achondroplasia
B - Osteogenesis Imperfecta: collagen type I defect
An elderly patient has bone pain, warmth over skull, and increased ALP.
Which of the following diagnoses best fits this presentation?
A. Cherubism
B. Achondroplasia
C. Paget’s Disease
D. Pituitary Dwarfism
C - Paget’s Disease: disordered bone remodeling
A child has bilateral jaw enlargement causing cherubic facial appearance.
Which of the following diagnoses best fits this presentation?
A. Achondroplasia
B. Pituitary Dwarfism
C. Gigantism
D. Cherubism
D - Cherubism: cherubic facial enlargement
