Impact of estrogen replacement on growth, skeletal maturation, bone density and body composition in a girl with novel aromatase gene mutation

Aromatase deficiency is a rare autosomal recessive disorder characterized by impaired androgen to estrogen conversion. We report 13.5-year-old girl initially misdiagnosed as simple virilising 21 hydroxylase who presented with delayed puberty. Work-up showed aromatase due novel mutation in the gene. Estradiol replacement was associated increased growth, skeletal maturation, bone density and adiposity. Early treatment our case may have prevented metabolic complications ovarian cysts.