Endocrine Abstracts

Goal: To carry out a retrospective analysis of case histories of children and adolescents with genetically determined types of short stature who admitted a paediatric department of a clinic of Research Institute of Endocrinologyduring 2003–2013.Materials and methods: An analysis of case histories of children and adolescents with short stature 3 to 17 years who undertook inpatient treatment in paediatric department of RIE clinic during 2003–2013...

Goal: Identification of latent mosaicism and determination of a parental origin of an X chromosome in TS patients in Uzbek population.Methods: Molecular genetic studies are carried out in 35 patients with TS (26 with monosomy and nine with mosaicism) at the age of 7–16 and their parents with a set of DIATOMTMDNA prep 200 reagents. DNA amplification was performed in Applied Biosystems thermocyclers. PCR products were subjected to electrophoresis on 1...