ABSTRACT
The study was undertaken to define the frequency of nonclasslcal 21-hydroxylase deficiency confirmed by CYP21 gene mutations in girls with pubertal hyperandrogenlsm, to estimate the value of clinical and hormonal markers of nonclasslcal 21-hydroxylase deficiency. Eighty-five girls aged 5-17 years who had hyperandrogenlsm (pubertas precox, hirsutism, acne vulgaris). All the examinees underwent adrenocorticotropic hormone (ACTH) (Synacthen-depot) test. After detecting the hormonal markers oj"nonclassical21-hy-droxylase deficiency (the baseline level of 17- Ð HP being was above 9 nmol/l and/or above 45 nmol/l after A CTH stimulation), the authors analyzed the most common CYP21 gene mutations. The frequency of nonclassical 21-hydroxylase deficiency supported by CYP21 mutations In the girls with hyperadrogenlsm was 8.3%. There were no clinical differences between the nonclassical form of 21-hydroxylase deficiency and other forms of hyperandrogenlsm. The high baseline 17-OHP ( > 20 nmol/l) is the most specific hormonal marker of nonclasslcal 21-hydroxylase deficiency. Glucocorticoid therapy is indicated for patients with substantially accelerated growth and bone maturation and in those with menstrual irregularities as oligomenorrhea or amenorrhea.
