45,X/46,XY Mosaicism: Phenotypic Characteristics, Growth, and Reproductive Function—A Retrospective Longitudinal Study

Abstract

Gonadal function in most 45,X/46,XY males, even those with genital ambiguity, seems sufficient for spontaneous puberty. Short stature and 45,X/46,XY mosaicism seem associated, but patients appear to benefit from GH treatment. Histology from two patients with biopsies from early childhood indicates that CIS originates before puberty.