Endocrinology

Question 1

Vitamin D deficient rickets

Answer 1

Nutritional defect, poor UV exposure

Low Ca, Phos
High alkaline phos, PTH
Normal 1,25 vitamin D

Question 2

Vitamin D dependent type 1 rickets

Answer 2

1 alpha hydroxylase deficiency

Low Ca, Phos
High alkaline phos, PTH
Low 1,25 vitamin D

Question 3

Vitamin D dependent type 2 rickets

Answer 3

End organ resistance

Low Ca, Phos
High alkaline phos, PTH
High 1,25 vitamin D

Question 4

X linked familial hypophosphatemic rickets

Answer 4

Defect in tubular reabsorption of phosphate

Normal Ca
Low phos
High alkaline phos
Normal PTH
Normal 1,25 vitamin D

Question 5

Renal disease

Answer 5

Defect in phosphate excretion

Low Ca
High phos
High alkaline phos, PTH
Low 1,25 vitamin D

Question 6

Pheochromocytoma

Answer 6

10% rule
    Extra adrenal
    Malignant
    Children
    Bilateral
    Familial

Question 7

MEN 1

Answer 7

Hyperparathyroidism
Pancreatic tumors (insulinoma, glucagonoma)
Pituitary tumors

Question 8

MEN 2a

Answer 8

Medullary thyroid carcinoma
Hyperparathyroidism
Pheochromocytoma

Question 9

MEN 2b

Answer 9

Medullary thyroid carcinoma
Pheochromocytoma
Mucosal neuromas

Question 10

Von Hippel Lindau

Answer 10

Visual defects
Ocular defects (retinal angioma)
Renal carcinoma
Hemangioblastoma of cerebellum
Pheochromocytoma
Pancreatic cysts
Ectopic erythropoietin production
Liver cysts

Question 11

Pseudohyparathyroidism

Answer 11

Unresponsive to PTH
Brachydactyly, short metacarpals
Moderate mental retardation
Ca deposits - basal ganglia, SC tissues
Lenticular cataracts