[Clinical and molecular characteristics of patients with 46,XY DSD due to NR5A1 gene mutations].

Steroidogenic factor 1 (SF1, NR5A1) is a nuclear receptor that regulates multiple genes involved in adrenal and gonadal development, steroidogenesis, and the reproductive axis. Human mutations in SF1 were initially found in patients with severe gonadal dysgenesis and primary adrenal failure. However, more recent case reports have suggested that heterozygous mutations in SF1 may also be found in patients with 46,XY partial gonadal dysgenesis and underandrogenization but normal adrenal function.

[Diagnosis of congenital sexual maldevelopment in boys with bilateral inguinal cryptorchidism during minipuberty].

Background: Cryptorchidism is associated with the risk of infertility and can be a symptom of congenital sexual maldevelopment.

Aim: To assess the functional status of the pituitary gland and sexual glands in boys aged 16 months with bilateral inguinal cryptorchidism and to reveal the congenital sexual maldevelopment during minipuberty.

Methods: Twenty-one boys aged 16 months (the minipuberty period) with isolated bilateral inguinal cryptorchidism and 40 healthy boys aged 23 months (the control group) were examined.

[Extended endoscopic endonasal posterior (transclival) approach to tumors of the clival region and ventral posterior cranial fossa. Part 1. Topographic and anatomical features of the clivus and adjacent structures].

Objective: to describe the main topographic and anatomical features of the clival region and its adjacent structures for improvement and optimization of the extended endoscopic endonasal posterior (transclival) approach for resection of tumors of the clival region and ventral posterior cranial fossa.

Material And Methods: We performed a craniometric study of 125 human skulls and a topographic anatomical study of heads of 25 cadavers, the arterial and venous bed of which was stained with colored silicone (the staining technique was developed by the authors) to visualize bed features and individual variability. Currently, we have clinical material from more than 120 surgical patients with various skull base tumors of the clival region and ventral posterior cranial fossa (chordomas, pituitary adenomas, meningiomas, cholesteatomas, etc.

[A role of antioxidants in the complex treatment of epilepsy].

The article covers the pathogenesis of epilepsy and goals of modern pharmacotherapy. The features of the development of epilepsy of vascular origin are presented as well. The authors describe the ways to increase the efficacy and decrease side-effects of anticonvulsants (a combination with antioxidant and antihypoxant drugs that was confirmed by the data on an important role of free-radical processes in the pathogenesis of epilepsy).

[Biological activity of selenorganic compounds at heavy metal salts intoxication].

Possible mechanisms of the antitoxic action of organoselenium compounds in heavy metal poisoning have been considered. Heavy metal toxicity associated with intensification of free radical oxidation, suppression of the antioxidant system, damage to macromolecules, mitochondria and the genetic material can cause apoptotic cell death or the development of carcinogenesis. Organic selenium compounds are effective antioxidants during heavy metal poisoning; they exhibit higher bioavailability in mammals than inorganic ones and they are able to activate antioxidant defense, bind heavy metal ions and reactive oxygen species formed during metal-induced oxidative stress.