ea0036P50 | (1) | BSPED2014
Santhanam Priyha
, Sachdev Pooja
, Denvir Louise
, Randell Tabitha
Introduction: 45XO/46XY karyotype has varied phenotypic spectrum ranging from short stature, ambiguous genitalia (60%), clinical signs of Turners syndrome in both males and females and normal male phenotype. We report six phenotypically male cases with a varied clinical presentation.Case 1 and 2: Short stature: Two pre-pubertal, phenotypical males, were referred with concerns regarding short stature (height <0.4th centile, height velocity –...