Question

Discuss the following in a 3-year-old male child with sexual precocity:
Management of a boy with 21-hydroxylase deficiency (21-OH CAH.

Hint:

Early diagnosis and appropriate management with glucocorticoid and mineralocorticoid therapy can help prevent the complications of 21-OHD CAH, including premature puberty and adrenal crisis.

Answer 1

Step 1: Understanding 21-OHD CAH:
21-hydroxylase deficiency is the most common form of congenital adrenal hyperplasia (CAH) and leads to a defect in cortisol and aldosterone synthesis, causing an accumulation of androgens. This results in virilization of the external genitalia in females and precocious puberty in males.

Step 2: Management of 21-OHD CAH:
1. Glucocorticoid Therapy: The mainstay of treatment is the administration of glucocorticoids (e.g., hydrocortisone) to suppress excess adrenal androgen production.
- The goal is to replace cortisol, normalize growth, and prevent early puberty.
2. Mineralocorticoid Therapy: If there is salt-wasting (more common in severe forms of CAH), mineralocorticoids (e.g., fludrocortisone) are used to replace aldosterone and maintain sodium balance.
3. Monitoring: Regular monitoring of electrolytes, growth parameters, and adrenal function is essential. The patient may also need periodic adjustments to their medication based on clinical response and lab results.
4. Surgical Intervention: In cases of severe virilization in female infants, reconstructive surgery of the genitalia may be required.
5. Genetic Counseling: Parents of children with 21-OHD CAH should be counseled about the inherited nature of the condition and the risk to future children.