CONGENITAL ADRENAL HYPERPLASIA(CAH)

Question 1

Why is the diagnosis of CAH important?

In new-borns
New-born babies with _________ forms of CAH die within ______ or _______ if not treated (? SEPSIS )

Answer 1

salt-losing

days or weeks

Question 2

___________ is the most common cause of ambiguous genitalia

Answer 2

CAH

Question 3

CAH girls may be mistaken for boys (with “_____________________”)

Answer 3

undescended testes

Question 4

Why is CAH diagnosis so important

In childhood

_________________ in boys
____________ in girls
_________________ in both

Answer 4

precocious puberty

virilization

short final height

Question 5

CAH due to the 21-Hydroxylase deficiency

Incidence
Classic 21-OH deficiency occurs in about 1 in 10,000-20,000 births.

Approximately ____% of affected infants have the salt-losing form, whereas ____% have the simple virilizing form of the disorder.

Answer 5

75

25

Question 6

Clinical manifestation-1/3
1) PRENATAL ANDROGEN EXCESS:

• 17-OH progesterone is shunted into the pathway for ________ biosynthesis, leading to high levels of _____________.
• This problem begins by _______ wk of gestation leading to abnormal genital development in (males or females?).
• _______ infants appear normal at birth.

Answer 6

androgen; testosterone

8-10; females

Male

Question 7

Clinical manifestation-2/3
2) ALDOSTERONE AND CORTISOL DEFICIENCY:
- Both hormones are deficient in the most severe, __________ form of the disease.
- Include progressive weight loss, anorexia, dehydration, weakness, hypotension, S &S of hypoglycemia, hyponatremia, and hyperkalemia.
- These problems typically first develop in affected infants at about _________ of age.

Answer 7

salt wasting

10 -14 days

Question 8

Clinical manifestation-3/3
— 3) POSTNATAL ANDROGEN EXCESS:
- Untreated children of both sexes develop additional signs of androgen excess after birth.
- Rapid ______ growth and accelerated ________ maturation with premature _____________.
- Pubic and axillary hair, acne and deep voice may develop.
- In girls, ___________ and ___________ usually do not occur unless the excessive production of androgens is _________________________________________ .

Answer 8

somatic; skeletal

closure of epiphysis

breast development and menstruation

suppressed by steroid therapy

Question 9

Laboratory findings

Patients with salt-losing disease:
_____natremia,_____ kalemia, (alkalosis or acidosis?) and often ____glycemia

Marked ↑in __________________________ – > 10,000 ng /deciliter (300 nmol/liter)
↑ in 2-3/7 of life. (Normal Newborn)-< 100ng/dl (3nmol/liter)

Cortisol level is ______.
Androstenedione and testosterone are _________ in affected females. ACTH is _______ but have no diagnostic utility.

Renin levels are ______ with ______ levels of aldosterone

Answer 9

hypo; hyper;acidosis; hypo

17-OH progesterone (17OHP)

low; elevated; high; high; low

Question 10

Treatment
1) Glucocorticoid replacement:
- Cortisol deficiency is treated with ________________ daily, 10-20 mg/m2/day, in 2 or 3 doses.
- This dose also ____________________________________________ .
- Double or triple doses are indicated during periods of —————- . - Therapy must be continued indefinitely.

Answer 10

hydrocortisone

suppresses excessive production of androgens

stress

Question 11

Treatment
Treatment during infancy

Full suppression of 17-OHP leads to __________
Goals
– Good general well-being
– Dose: Lowest possible that achieves well- being.
– 17-OHP levels are of (primary or secondary?) importance

Answer 11

overtreatment

Secondary

Question 12

Treatment

Glucocorticoid treatment during childhood
–Much enough to prevent excess _________ __________ , _______________ and afternoon fatigue.
–Little enough to prevent _________ , impaired _________ , and future _____________ .

Answer 12

androgen formation; adrenal crisis

obesity; growth; osteoporosis

Question 13

Treatment
2) Mineralocorticoid Replacement:
- Patients with salt wasting disease require Rx with ____________________. (25-50μg/day)
-______________ (0.5g twice or thrice daily) to the diet stabilizes the situation in the 1st _______________
- Serum electrolytes should be measured frequently.
- Plasma _______ level is a useful way to monitor therapy.

Answer 13

fludrocortisone; Addition of salt

1-or 2 years.

Renin

Question 14

Newborn screening
—
Analyzes _________________ levels in dried blood obtained by heel-stick.
— Potentially affected infants are recalled for additional testing at ______ of age.
— Seem to be effective in preventing many cases of __________ in affected males.
— The cut-off 17-OH progesterone levels for recalls are set so low that there is high frequency of _______________ results (high sensitivity and low specificity)

Answer 14

17-OH progesterone

2wk; adrenal crisis

false-positive