[The comparative analysis of the results of detection of testosterone in blood serum applying analyzers Architect and Vitros and tandem mass-spectrometry, a highly efficient fluid chromatography technique.]

The testosterone is a key element of hypothalamus hypophysis gonad system. Its physiological role in males is well known and consists primarily in formation of male phenotype and support of spermatogenesis. The evaluation of androgenic status is necessary in case of such wide specter of clinical symptoms and pathological states as hypogonadism, delayed of premature puberty, polycystic ovary syndrome, particular types of cancer, etc. The precise measurements of testosterone concentrations have a decisive value in case of receiving biochemical data for supporting clinical decisions at diagnostic, treatment and prevention of androgenic diseases. The purpose of the study is to carry out a comparative analysis of the results of detection of testosterone in blood serum using analyzers Architect 2000 and Vitros 3600 and applying technique of highly-effective fluid chromatography - a tandem mass-spectrometry. The analysis was applied to samples of blood serum from 230 patients send to the endocrinological research center of Minzdrav of Russia. The comparative analysis of the results of detection of concentrations of testosterone demonstrated consistent difference in absolute values. However, a statistically significant correlation (р < 0,05) between values of testosterone obtained by different techniques was established. The correlation coefficient in different groups of patients made up to 0,894-0,920 and 0,955--0,965 correspondingly to comparing the results of Architect and Vitros and highly-effective fluid chromatography - a tandem mass-spectrometry. The calculated percentage of distribution of the results of detection of content of testosterone by the ranges of expected values demonstrated an admissible comparativeness of obtained results from point of view of practical diagnostic. The choice of technique of detection of biochemical parameters in case of primary diagnostic is very important. However, even more important is the application of the very same technique in treatment and long-term observation of patient.

[TYPE 1 MULTIPLE ENDOCRINE NEOPLASIA SYNDROME AND FAMILIAL ISOLATED HYPERPARATHYROIDISM].

Type 1 multiple endocrine neoplasia syndrome (MEN-1) is a rare autosomal dominant disorder caused by mutation in the MEN-1 gene and manifest as a combination of tumours of parathyroid glands, endocrine pancreas, and adenohypophysis. Familial isolated hyperparathyroidism (FIHP) is another rare autosomal dominant disorder characterized by the development ofparathyroid tumours as the sole endocrinopathy within a single family. The notion of FIHP encompasses different hereditary forms of primary hyperparathyroidism, such as a variant of MEN-1 syndrome. This paper is a brief literature review of the problems related to primary hyperparathyroidism, MEN-1, and FIHP. Also, It describes a family presenting with genetically confirmed MEN-1 syndrome, manifest as primary hyperparathyroidism.

[MODY2: Clinical and molecular genetic characteristics of 13 cases of the disease. The first description of MODY in Russia].

Maturity-onset diabetes of the young (MODY) is a clinically heterogenic group of diseases, with an autosomal dominant mode of inheritance and gene mutations resulting in dysfunction of pancreatic ß cells. The type of diabetes and further treatment policy can be reliably determined on the basis of the data of a molecular genetic study that confirms gene mutations. Today there are known mutations of 8 genes, of which glucokinase (GCK) gene mutation that leads to the development of MODY2 and occurs most frequently. The spread of this mutation among DM patients in our country has not been studied. The diagnosis of MODY2 was established in 13 members of 5 families with the clinical picture typical of this type. The molecular genetic study revealed 4 new and 1 earlier described mutations. The findings extend ideas on the molecular bases of MODY, which creates conditions for improving the diagnosis of this disease, genetic counseling and the development of pathogenetically founded approaches to treatment.

[Non-immune thyrotoxicosis caused by thyroid-stimulating hormone receptor activating gene mutation (the first description in Russia)].

Thyrotoxicosis of newborns, observed in less than 1% of pregnant women with Graves disease, is due to transplacental transfer of stimulating antibodies to the thyroid stimulating hormone receptor (rTSH). The clinical picture manifests itself in the first days of a child's life, is transient in nature and, as a rule, ends with a full recovery as the maternal antibodies to rTSH disappear from the bloodstream of the newborn. However, in addition to the "classic" autoimmune thyrotoxicosis, cases of congenital and familial non-autoimmune thyrotoxicosis, which are caused by inherited activating mutations of the gene encoding rTSH - TSHR, have been described. This article presents its own observation.

[Clinical and molecular genetic verification of Frasers syndrome, false male hermaphroditism and chronic glomerulonephritis (the first description in Russia)].

The Wilms tumor gene (WT1) encodes a transcription factor that plays a key role in the laying and differentiation of the kidneys and gonads. Mutations of the WT1 gene were detected in patients with the WAGR complex (Wilms tumor, aniridia, urogenital pathology, mental retardation), Denis-Drach syndrome (early renal failure, diffuse mesangial sclerosis, varying degrees of gonadal dysgenesis, high risk of Wilms tumor) and Fraser syndrome. The latter is characterized by a fully female phenotype with karyotype 46XY, focal segmental glomerulosclerosis with the development of renal failure in the 2nd decade of life, gonads in the form of cords and a high risk of gonadoblastoma. The presence of a heterozygous point mutation, which alters the donor site of splicing of the intron 9 of the WT1 gene, is also typical of Fraser syndrome. We present a case of characteristic clinical manifestations of Fraser syndrome in a patient in whom the diagnosis was confirmed by the detection of a mutation in the WT1 gene.