Genetic and clinical spectrum of aromatase deficiency in infancy, childhood and adolescence

Horm Res. 2009;72(6):321-30. doi: 10.1159/000249159. Epub 2009 Oct 21.


Introduction: cP450aromatase deficiency provides clues for the understanding of the role of aromatase in prepubertal and pubertal human health and disease. Placental aromatization of androgens protects the female fetus against the virilizing action of fetal androgens. After birth, the dual effect of aromatase deficiency, excessive androgens, and insufficient estrogens is responsible for a variable clinical picture. Nineteen cases of aromatase gene (CYP19) deficiency have been reported.

Phenotype: Phenotype is dependent on sex and age. In newborns, aromatase deficiency should be considered in the etiology of 46,XX DSD, after ruling out congenital adrenal hyperplasia. In prepubertal aromatase deficient girls, high levels of ovarian androgens and gonadotropins facilitate the formation of ovarian cysts. Bone mineralization can be affected and bone aging is delayed. In pubertal girls, there is poor sexual development and abnormal virilization. The phenotype may be variable according to enzyme activity level. Insulin sensitivity may be abnormal in both men and women. Finally, aromatase might also play a role in the regulation of testicular cell mass in the newborn testis.

Conclusion: Adequate interpretation of clinical data should lead to the analysis of the CYP19 gene for diagnostic confirmation and implementation of appropriate management.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adolescent
  • Androgens / metabolism
  • Aromatase / deficiency*
  • Aromatase / genetics*
  • Bone Development
  • Child
  • Female
  • Genitalia / abnormalities
  • Genitalia / growth & development
  • Genitalia / metabolism
  • Humans
  • Hypothalamo-Hypophyseal System / metabolism
  • Infant
  • Infant, Newborn
  • Insulin Resistance
  • Lipids / blood
  • Male
  • Models, Biological
  • Mutation
  • Phenotype
  • Pregnancy
  • Puberty


  • Androgens
  • Lipids
  • Aromatase