Congenital adrenal hyperplasia

Question 1

What does congenital adrenal hyperplasia encompass

Answer 1

a group of autosomal recessive disorders caused by a deficiency of enzymes involved in the synthesis of adrenal steroids

Question 2

In what countries is the incidence of CAH higher

Answer 2

Hispanic
Yugoslav
Eastern European Jewish women

Question 3

What causes CAH

Answer 3

21-hydroxylase enzyme deficiency (autosomal recessive)

Question 4

What does 21-hydroxylase deficiency cause

Answer 4

reduced aldosterone production

reduced cortisol production resolution in increased ACTH secretion

Question 5

What are the three main clinical phenotypes of congenital adrenal hyperplasia

Answer 5

Classic salt-losing 
classic simple-virilizing 
non classic (late onset)

Question 6

What do girls with salt-losing CAH present with

Answer 6

ambiguous genitalia (enlargement of the clitoris and labial fusion) caused by the effects of androgen excess on the development of the external genitalia in utero

Question 7

What do boys with salt-losing CAH present with

Answer 7

Testicular masses due to ectopic adrenal cells stimulated by ACTH hyper secretion

Question 8

How do boys present with classic simple virilizing CAH

Answer 8

At 2-4 years of age with early virilization and signs of puberty

Question 9

What are some of the effects of CAH in females (teens and adolescents)

Answer 9

reduced fertility rate - irregular menstrual cycles

structural abnormalities

Question 10

Describe growth in patients with CAH

Answer 10

Accelerated growth in childhood

Premature epiphyseal closure ending in short final stature

Question 11

Patients with non-classic symptoms present with what?

Answer 11

hirsutism, acne
menstrual irregularity
early pubarche or sexual precocity in school aged
no symptoms

Question 12

When are most patients with classic CAH diagnosed

Answer 12

infancy

Question 13

How can we make a diagnosis of classic CAH

Answer 13

elevated level of 17-hydrozyprogesterone (precursor steroid)
Hyponatraemia and hyperkalaemia
Plasma renin level

Question 14

In patients with non-classic CAH, when should 17-hydroxyprogesterone be measured

Answer 14

9 am and in the follicular stage of the menstrual cycle

If in the luteal phase, false positive may occur as it is also produced by the corpus luteum

Question 15

What is the treatment for salt-losing form of CAH in infants/ children

Answer 15

Initially IV saline and hydrocortisone

thereafter glucocorticoid and mineralocorticoid replacement

Question 16

Why are glucocorticoids given

Answer 16

They suppress the early morning peak of ACTH and thus andiron secretion

Question 17

What should be done for females with ambiguous genitalia

Answer 17

Karyotyping and gender assignment urgently

Counselling

Question 18

Females not pursuing fertility are treated with what

Answer 18

oral contraceptive or cypoterone acetate for acne and hirsutism

Question 19

Females wanting to pursue fertility are treated with what

Answer 19

glucocorticoids

Question 20

What is the treatment for males with non-classic CAH

Answer 20

don’t require unless they have testicular masses or oligospermia
In those cases - glucocorticoids until no longer desire fertility

Question 21

How often should classic CAH in adults be followed up

Answer 21

annually

Question 22

What is an indicator of glucocorticoid over treatment

Answer 22

cushingoid appearance

Question 23

what is an indicator of mineralocorticoid under treatment

Answer 23

postural hypotension

Question 24

What should be measured in men and women receiving glucocorticoid therapy

Answer 24

serum androgen levels

testosteron in men to assesss testicular function

Question 25

What should be monitored in patients on mineralocorticoid therapy

Answer 25

plasma renin activity and serum electrolytes