Endocrine Abstracts

BackgroundAromatase deficiency is an extremely rare autosomal recessive condition due to mutations on CYP19A1 gene. Despite the size and complexity of this gene, only about 40 cases with aromatase deficiency have been reported.Case reportThe patient was born at term from non-consanguineous parents. Maternal signs of virilization were verified during third trimester (deep voice, acne on arms and face ...