31. Adrenal Path

Question 1

A 4 year old boy is brought to his PCP by his mother. She has noticed the growth of pubic hair when giving her son a bath. He is in the 99th percentile for height. Blood testing reveals mild anemia, mild hyponatremia, and mild hyperkalemia. The boy returns for a f/u the next morning at 8am and blood levels show high 17alpha hydroxyprogesterone. What would a steroid profile look like for this patient? (MG)

A. ↓Sex steroids, ↓Glucocorticoids, ↑Mineralocorticoids
B. ↑Sex steroids, ↑Glucocorticoids, ↑Mineralocorticoids
C. ↑Sex steroids, ↓Glucocorticoids, ↓Mineralocorticoids
D. ↑Sex steroids, ↑Glucocorticoids, ↓Mineralocorticoids
E. ↓Sex steroids, ↓Glucocorticoids, ↓Mineralocorticoids

Answer 1

C. ↑Sex steroids, ↓Glucocorticoids, ↓Mineralocorticoids

Dx is 21 hydroxylase deficiency

Question 2

A 5 year old girl with ambiguous genitalia is brought to the doctor for a routine check up. Her parents have not been giving her medication her BP is 140/92. What is the most likely cause of the girls condition?

A. 17a hydroxylase deficiency 
B. Cushing's Syndrome 
C. Addison's Disease 
D. 21-hydroxylase deficiency 
E.11B- hydroxylase deficiency

RFA

Answer 2

Ans. E 11B- hydroxylase def. - ambiguous genitalia(females) with high BP

A. 17a hydroxylase- females delayed puberty and hypertension

D. 21 hydroxylase- ambiguous genitalia with low BP