ABSTRACT
Aromatase deficiency appears to be a rare condition and there have been ten mutations reported to date, affecting seven females and three males, one of whom is a child (Figure 10.2) (Shozu et al., 1991; Ito et al., 1993; Morishima et al., 1995; Portrat-Doyen et al., 1996; Carani et al., 1997; Mullis et al., 1997). The phenotypes of these individuals will be summarized in this presentation as will the findings on the phenotype of aromatase knockout mice (ArKO) created by disruption of the CYP19 gene which encodes aromatase.
