Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis

Larger studies on outcomes in males with 45,X/46,XY mosaicism are rare.To compare health outcomes in males with 45,X/46,XY diagnosed as a result of either genital abnormalities at birth or nongenital reasons later in life.A retrospective, multicenter study.Sixteen tertiary centers.Sixty-three males older than 13 years with 45,X/46,XY mosaicism.Health outcomes, such as genital phenotype, gonadal function, growth, comorbidities, fertility, and...