hrp0086p2-p850 | Syndromes: Mechanisms and Management P2 | ESPE2016

An Unusual Cause of Short Stature in a Phenotypic Male with Type I Diabetes Mellitus due to an Unexpected Deletion of the Y Chromosome

Giri Dinesh , Ghatak Atrayee , Landes Caren , Ramakrishnan Renuka

Background: Short stature homeobox (SHOX) gene, located on the pseudoautosomal region of the sex chromosome plays an important role in the development of skeleton and its mutations/deletions can cause skeletal dysplasias.Objective and hypotheses: We report a male, with Type I Diabetes (T1DM) with Y chromosome deletion and short stature due to the concurrent loss of SHOX.Method: A 15-year-old boy with T1DM for 6 years was referred f...