hrp0084p3-973 | GH & IGF | ESPE2015

A Patient with an 13q Deletion Syndrome, Important Growth Delay and Somatotropine Insufficiency Undergoing Growth Hormone Therapy–Case Report.

Wolaniecka-Deahan Kinga , Szalecki Mieczyslaw , Chrzanowska Krystyna

Background: Growth deficiency is a common symptom of many genetic syndromes. 13q deletion is a very rare genetic syndrome described in almost 200 cases. Growth reduction is a constant symptom along with mental retardation, congenital defects varying according to the deleted region of chromosome 13.Objective and hypotheses: The aim of this paper was to present the case of a 12 year old patient with an interstitial deletion 13q (22.3–31.1), important ...