Endocrine Abstracts

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is the most common disorder, in which lack of the enzyme causes deficiency aldosterone and cortisol. The result of this deficiency is an increased level of ACTH. The classic form appears in early childhood and may be associated with the development of abnormal genitalia. Clinically older patients present the GnRH-independent precocious puberty with rapid growth and advanced bone age. We present the case of 9-year-old girl, who was treated of the congenital adrenal hyperplasia due to 21- hydroxylase deficiency. When the girl was 5 years old, she was diagnosed because of precocious puberty. The height and weight were over 97 percentile, bone age – 11 years, advanced puberty by Tanner stages: Th1, Pub 3, Ax 1, enlarged clitoritis. In laboratory tests the patient had normal cortisol level in serum and elevated adrenal androgens. Congenital adrenal hyperplasia was confirmed in steroid profile in urine. The hydrocortisone had been administered orally in dosages of 8-12 mg/m²/day in three divided doses. The side effect of that therapy was hypertension. The result of using hydrocortisone was slow down progression of bone age. When the girl was 7.5 years old, because of progress precocious puberty, the test with GnRH was performed. Central precocious puberty was treated with triptorelin to achieve gonadotropin inhibition. Due to insufficient improvement after treatment with hydrocortisone the using therapy with dexamethasone (0.5 mg daily orally) caused decreased level of androgens, slowed growth during first year of treatment and normalization steroid profile in urine.

Results

1). The preferred glucocorticoid for chronic treatment of the congenital adrenal hyperplasia due to 21- hydroxylase deficiency is hydrocortisone. 2). For the purpose of prevented hyperandrogenism in children and adolescents it is important to treat the patient by antiandrogenic drugs. 3). Sometimes, precocious puberty should be treated centrally in children.