hrp0086p2-p881 | Syndromes: Mechanisms and Management P2 | ESPE2016

The Structure of Genetically Determined Types of Short Stature in Uzbekistan According to Retrospective Analysis

Ibragimova N.Sh. , Dalimova D.A. , Mirkhaidarova M.

Background: Stunting in children is a heterogeneous state. Many endocrine, somatic, genetic and chromosomal diseases are accompanied by stunting. It can adversely affect indicators of the final height of the child; therefore timely diagnostics and treatment stunting is very important.Objective and hypotheses: To carry out a retrospective analysis of case histories of children and adolescents with genetically determined types of short stature who admitted...

hrp0089p3-p244 | Growth & Syndromes P3 | ESPE2018

Terner Syndrome: Epidemiological Study in Uzbekistan

Mirkhaydarova Malika , Ibragimova Nilufar

Turner syndrome is linked to the absence or abnormality of one of the X chromosome leading to haplo-insufficiency of genes involved in the development and maintenance of the ovarian stock in women. The purpose of this study was to establish the clinical, hormonal, cytogenetic and evolutive pattern of Uzbek population with Turner syndrome and to search for correlations between genotype and phenotype. We examined 149 Uzbek girls with Shereshevsky-Turner syndrome aged from 3 mont...