[Lipoid adrenal hyperplasia caused by earlier unknown 21STAR gene mutations].

Lipoid adrenal hyperplasia (LAH) is a most severe type of congenital adrenal cortical dysfunction (CACD). In this type of CACD, there is defect in the conversion of cholesterol to pregnenolone, as a consequence the production of all steroid hormones was impaired in both the adrenals and gonads. Defects of the STAR gene encoding for a steroidogenic acute regulatory (StAR) protein underlie the disease in most cases. Until the present time, there have been no reports on cases of LAH in the Russian literature. The diagnosis of LAH was established by the authors in three genetic girls aged 2.3 years, 6 and 7 months who had a normal structure of the external genitalia and in whom the disease was marked by manifestations of primary hypoadrenocorticism at the age of 21, 2, and 10 days, respectively. A hormonal study failed to show elevated levels of Cortisol and 17-hydroxyprogesterone in response to adrenocorticotropic hormone stimulation. A molecular genetic study revealed the following STAR gene defects: P129AC/W250X, IVS5-1G, and W147X, respectively. Р129ЛС, IVSS, and W147X mutations have not been earlier described. The data of the observation emphasizes the need of including LAH into the algorithm of differential diagnosis of CACD in children with the normal female structure of the external genitalia. The molecular genetic analysis should be prominent in diagnosing LAH, by taking into account the lack of hormonal markers of the disease.

[Hypothalamic hamartoma in children].

The paper presents the data of examination and treatment of children with pubertas precox (PP) resulting from hypothalamic hamartoma, a rare malformation of the brain. It analyzes the results of 27 cases that is one of the largest series of cases in the world literature. Of the greatest interest are the clinical and anatomic comparisons presented by the authors, which make it possible to define the involvement of different hypothalamic structures in the development of specific endocrine disorders. When located parahy-pothalamically, hamartomas (a peduncular type) are characterized by the symptoms of PP; when located intrahypothalamically (a sessile type), in addition to PP, there are convulsive typical symptoms (compulsive laughter attacks). At the suprahypothalamtc site, there are commonly diencephalic disorders (obesity, diabetes insipidus). The paper provides the results of surgical and hormonal treatment (the use of long-acting luteinizing hormone-releasing hormone analogues), evidence for the high efficiency of medical treatment and the low efficiency attended by a high risk of complications, surgical treatment.

[Clinical variants of McCune-Albright-Braitsev syndrome in girls]. / Klinicheskie varianty sindroma Mak-K'iuna-Olbraita-Braitseva u devochek.

The authors analyze published data on clinical variants and hormonal parameters in patients with this syndrome and present their own observations of children with this condition. Besides early sexual maturation, they describe the clinical picture of Cushing's syndrome, thyroid nodular hyperplasia. The said disorders do not depend on the tropic effect of the hypothalamohypophyseal system. A hypothesis is put forward about primary activation of adenylate cyclase system in the origin of the disease.

[The possible sources of hyperandrogenism in hirsutism in girls]. / Vozmozhnye istochniki giperandrogenii pri girsutizme u devochek.

The purpose of the investigation is to elucidate the role of adrenal androgens in the development of the syndrome of polycystic ovaries in girls of pubertal age. Clinical manifestations of disease and hormonal indices, the levels of testosterone, 17-oxyprogesterone and cortisol with ACTH and dexamethasone tolerance tests were investigated. A significant rise of the level of testosterone and 17-oxyprogesterone was revealed in response to ACTH administration in 30% of the examinees indicating the adrenal genesis of hyperandrogenism. A characteristic feature of the development of disease in this group of patients is early development of hirsutism followed by disturbed menstrual function.

[Assessment of the effectiveness of Androcur in the treatment of precocious puberty]. / Otsenka éffektivnosti primeneniia Androkura pri lechenii prezhdevremennogo polovogo razvitiia.

The data are provided on the continuous use of Androcur in the treatment of genuine precocious puberty in children. The drug produced a beneficial effect in 100% of cases in respect to suppression of the secondary sexual characters, menstrual function in girls, and behavior normalization in boys. During treatment, the improvement of the growth prognosis was negligible. Stabilization of the processes of osseous maturation requires administration of the maximal drug doses, which may suppress glucocorticoid function of the adrenals. This fact should be taken into account during treatment, particularly on its discontinuation. The treatment should be discontinued according to the schedule similar to that applied in glucocorticoid discontinuation.