Catalog

Aromatase deficiency

No MMS code

Link to WHO Definition

Aromatase deficiency – http://id.who.int/icd/entity/260189446

Aromatase deficiency is a rare autosomal recessive disease in which fetal androgens are not converted into estrogens due to placental aromatase deficiency during pregnancy, resulting in an increased level of maternal plasma testosterone and low estrogen levels. Pregnant women exhibit hirsutism, which spontaneously resolves post-partum. At birth, affected female babies present with pseudohermaphroditism due to virilization of external genital organs. In men, manifestations occurs later during adulthood, with tall stature due to incomplete epiphyseal closure, eunuchoid proportion of the skeleton, associated with osteoporosis and obesity.