[The nonclassical form of congenital adrenal cortical dysfunction in adolescent girls].

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- О 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.

[New mutation in the CYP17 gene: description of a case].

Deficiency of 17α-hydroxylase is a rare variant of congenital adrenal cortical dysfunction. The defect was first described by E. Biglieri et al. in 1966 in patients with sexual infantilism, pronounced excess mineralocorticoids with salt retention and arterial hypertension. Currently, several variants of the nonclassical course of the disease are described (with an increased level of aldosterone and without the development of hypertension and hypokalemia), the pathophysiological mechanism of which could not be explained. Cases of isolated deficiency of 17,20-lyase activity associated with mutations of R347H and R358Q in the CYP17 gene are also described. Here is the observation of a patient with a new mutation in the CYP17 gene with 17α-hydroxylase/17,20-lyase deficiency.

[Experience with pioglitasone (actos) in the treatment of polycystic ovary syndrome].

The paper presents the authors 'data obtained from examinations of 1 7 patients aged 15 to 36 years who had polycystic ovary syndrome (PCOS) and insulin resistance before and after therapy with pioglitasone in a daily dose of 30 mg, regardless of the time of a meal, for 3 months. The study was undertaken to examine the effects of pioglitasone on carbohydrate and lipid metabolic parameters, as well as on the hormonal parameters of ovarian function and on the basic clinical manifestations in patients with PCOS. Elimination of insulin resistance with the sensitizers of the action of insulin, such as pioglitasone, contributes to the normalization of reproductive function in most patients with PCOS and insulin resistance.