Endocrine Abstracts

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...