CONGENITAL ADRENAL HYPERPLASIA

Question 1

Definition

Answer 1

CAH is a family of AR disorders of cortisol biosynthesis. Cortisol deficiency increases secretion of ACTH, which in turn result in adrenocortical hyperplasia and overproduction of the intermediate metabolites. Depending on the enzymatic step that is deficient, there may be signs, symptoms, and laboratory findings of mineralocorticoid deficiency or excess; incomplete virilization or premature puberty in affected males; and virilization or sexual infantilism in affected females.

Question 2

CAH due to 21-Hydroxylase Deficiency Et

Answer 2

Et. It accounts >90% of CAH cases. It caused by deficiency of 21hydroxylase

Question 3

CAH due to 21-Hydroxylase Deficiency

Types

Answer 3

 Classical 21-hydroxylase deficiency involve either deficiency of both hormones (i.e. aldosterone and cortisol)
💔the most severe form (70%) of disease “Salt-wasting”, or the patients are able to synthesize adequate amounts of aldosterone
💔the less severe form (30%) of disease;
Note 📝 both have elevated levels of androgens of adrenal origin, thus called “Simple virilizing disease”.

 Non-classical disease, which is more common than classical one, patients have only mild elevation of androgens and may have signs of androgen excess after birth.

Question 4

salt-wasting” disease clinical manifestations

Answer 4

female

• Virilization
• Vomiting ,diarrhea dehydration
• Early diagnosis

male
• Normal genitalia

• Vomiting diarrhea dehydration
• Delayed or missed diagnosed (death)

Aldosterone and Cortisol deficiency: Both hormones are deficient in “salt-wasting” disease → anorexia, vomiting, dehydration, weakness, hypotension, hypoglycemia, hyponatremia, hyperkalemia, and progressive weight loss. These problems are typically develop as early as 10-14 days of life & if patient is untreated; shock, cardiac arrhythmias, and death may occur within days or weeks.

Question 5

classic deficiency without salt wasting clinical manifestations

Answer 5

simple virilization with adequate aldosterone levels
◆ females typically present with amenorrhea, precocious puberty, polycystic ovaries, hirsutism
◆ males typically asymptomatic at birth, may show hyperpigmentation (from overproduction of melanocyte stimulating hormone), penile enlargement, rapid growth and accelerated skeletal maturation; present with signs of virilization later in life

Question 6

non-classic CAH

Answer 6

mild androgen excess, sometimes asymptomatic, virilization present later in life, rarely associated with Addisonian crises

Question 7

Approach to patient with ambiguous genitalia:-

Answer 7

A thorough physical exam to define the anatomy of the genitals including palpation of scrotum (or labia) and the inguinal regions for testes, if it present, it almost always indicate that the infant is genetically male.

US is helpful in demonstrating the presence or absence of uterus and can often locate the gonads (ovaries or intra-abdominal testes).

Injection of contrast medium into the urogenital sinus of female pseudohermaphrodite can demonstrates the vagina and uterus.

Rapid karyotype e.g. FISH technique can quickly determine the genetic sex of the infant.

Question 8

Management

Answer 8

• correct any abnormalities in fluids, electrolytes, or serum glucose
• provide glucocorticoids (e.g. hydrocortisone)/mineralocorticoids (fludrocortisone) as necessary to reduce ACTH levels, extra glucocorticoids in times of stress
• psychosocial support