ea0037ep124 | Steroids, development and paediatric endocrinology | ECE2015
Martins Diana
, Baptista Carla
, Bastos Margarida
, Garabal Ana
, Sa Joaquim
, Moreno Carolina
, Guelho Daniela
, Vicente Nuno
, Cardoso Luis
, Balsa Margarida
, Oliveira Diana
, Carrilho Francisco
Introduction: The height growth is regulated by multiple factors, including specific genetic mutations that ensure correct differentiation and proliferation of chondrocytes. We present a case of double association of haploinsufficiency of the SHOX gene with a mosaic 45,X/46,X,r(Y) karyotype responsible for growth and pubertal delay.Case: Male patient, observed in endocrinology consultation at age of 12, with constitutional delay of grow...