Congenital Adrenal Hyperplasia

Question 1

What are the hormonal abnormalities of 21-hydroxylase deficiency?

Answer 1

decreased cortisol and aldosterone
increased testosterone
increased 17-hydroxyprogesterone

Question 2

What are the hormonal abnormalities of 11B- hydroxylase deficiency?

Answer 2

decreased cortisol and aldosterone
increased testosterone
increased 11- deoxycorticosterone

Question 3

What are the hormonal abnormalities of 17a-hydroxylase deficiency?

Answer 3

decreased cortisol and testosterone
increased mineralocorticoids
increased corticosterone

Question 4

clinical features of 21-hydroxylase deficiency (BOTH SEXES)

Answer 4

salt-wasting HoTN w/ hyponatremia, hyperkalemia, and shock

recurrent vomiting

failure to thrive

Question 5

clinical features of 11B-hydroxylase deficiency (BOTH SEXES)

Answer 5

fluid and salt retention HTN

hypernatremia

hypokalemia

Question 6

clinical features of 17a-hydroxylase deficiency (BOTH SEXES)

Answer 6

fluid and salt retention

HTN

Question 7

clinical features of 21-hydroxylase deficiency (MALES ONLY)

Answer 7

normal genitalia in neonatals

later in childhood, early development of pubic hair, phallic enlargement with accelerated linear and skeletal growth

Question 8

clinical features of 11B-hydroxylase deficiency (MALES ONLY)

Answer 8

normal genitalia

Question 9

clinical features of 17a-hydroxylase deficiency (MALES ONLY)

Answer 9

undermasculinization w/ ambiguous genitalia

occasional gynecomastia

Question 10

clinical features of 21-hydroxylase deficiency (FEMALES ONLY)

Answer 10

ambiguous genitalia including precocious pubic hair, cliteromegaly

Question 11

clinical features of 11B-hydroxylase deficiency (FEMALES ONLY)

Answer 11

ambiguous genitalia with cliteral enlargement and labioscrotal fusion

Question 12

clinical features of 17a-hydroxylase deficiency (FEMALES ONLY)

Answer 12

normal genitalia

primary amenorrhea

absence of secondary sexual characteristics

minimal body hair