Dataset Information

Variable phenotypes associated with aromatase (CYP19) insufficiency in humans.

ABSTRACT:

Context

The P450 enzyme aromatase (CYP19) plays a crucial role in the endocrine and paracrine biosynthesis of estrogens from androgens in many diverse estrogen-responsive tissues. Complete aromatase deficiency has been reported in a small number of 46,XX girls with genital ambiguity and absent pubertal development, but it is unknown whether nonclassic phenotypes exist.

Objective

The objective of this study was to determine whether variant forms of aromatase insufficiency can occur in humans.

Patients and methods

Four patients (46,XX) from three kindreds with variable degrees of androgenization and pubertal failure were studied using mutational analysis of CYP19 and assay of enzyme activity.