Preferred Label : Aromatase deficiency;
ICD-11 definition : 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.;
Origin ID : 260189446;
Currated CISMeF NLP mapping
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.
