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 is carried out.

Results: During 2003–2013, 642 children and adolescents with stunting and disorders of sexual development (236 boys or 36.8% and 406 girls or 63.2%) were hospitalised and examined; of them there were 197 children at the age of 3–11 years (30%) and 455 adolescents aged 12–17 years (70%). Mean age of patients at diagnostics makes 12.7±3.9 years. The following structure of genetically determined types of short stature is found: TS -57.1% (average age 13.8±3.5 years); with multiple deficiency of adenohypophysis hormones (MDAH) – 23%; the ratio between boys and girls made 1.5:1; primordial dwarfism in 5.2%; hypochondroplasia in 4.6%; Noonan syndrome in 3.2%; Sekkel syndrome in 2.4%, Rassel-Silver syndrome in 2.1%; PraderWilli syndrome in 1.5%; Laron syndrome in 0.9%.

Conclusions: Results of the retrospective analysis show:

In Uzbekistan the greatest percent of children and adolescents with genetically determined types of short stature is made by patients about TS and MDAH, in comparison with other genetic variants of short stature;

- Late diagnostics and a low level of detectability of children with genetically determined types of short stature in the Republic.