Pediatric Definition - Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia may present with enlargement of the clitoris in infants, fusion of the labial and virilization in female. In male, congenital adrenal hyperplasia may present with enlarged penis, increased pigmentation and salt losing crisis.
There will be advanced skeletal maturity and precocious puberty.
The laboratory test may reveal increased in 17 hydroxyprogesterone, hyponatremia, metabolic acidosis and hyperkalemia. There will be homozygous 21 hydroxylase deficiency.
The investigation requires may include CT scan and MRI scan as well as imaging adrenal ultrasound.
The treatment of congenital adrenal hyperplasia may include fludrocortisone and glucocorticoids suppress adrenal function and surgical therapy for genital reconstruction.
Psychology support is also recommended.
Differential diagnosis of congenital adrenal hyperplasia are adrenal hypoplasia, adrenal insufficiency, androgen insensitivity syndrome, ambiguous genitalia,
Congenital adrenal hyperplasia may present with enlargement of the clitoris in infants, fusion of the labial and virilization in female. In male, congenital adrenal hyperplasia may present with enlarged penis, increased pigmentation and salt losing crisis.
There will be advanced skeletal maturity and precocious puberty.
The laboratory test may reveal increased in 17 hydroxyprogesterone, hyponatremia, metabolic acidosis and hyperkalemia. There will be homozygous 21 hydroxylase deficiency.
The investigation requires may include CT scan and MRI scan as well as imaging adrenal ultrasound.
The treatment of congenital adrenal hyperplasia may include fludrocortisone and glucocorticoids suppress adrenal function and surgical therapy for genital reconstruction.
Psychology support is also recommended.
Differential diagnosis of congenital adrenal hyperplasia are adrenal hypoplasia, adrenal insufficiency, androgen insensitivity syndrome, ambiguous genitalia,