Aromatase deficiency is a condition characterized by reduced levels of the female sex hormone estrogen and increased levels of the male sex hormone testosterone.
Mutations in the CYP19A1 gene cause aromatase deficiency. The CYP19A1 gene provides instructions for making an enzyme called aromatase. This enzyme converts a class of hormones called androgens, which are involved in male sexual development, to different forms of estrogen. In females, estrogen guides female sexual development before birth and during puberty. In both males and females, estrogen plays a role in regulating bone growth and blood sugar levels. During fetal development, aromatase converts androgens to estrogens in the placenta, which is the link between the mother's blood supply and the fetus. This conversion in the placenta prevents androgens from directing sexual development in female fetuses. After birth, the conversion of androgens to estrogens takes place in multiple tissues.
The prevalence of aromatase deficiency is unknown; approximately 20 cases have been described in the medical literature.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Gabriela Guercio is in Argentina. Guercio is rated as an Elite expert by MediFind in the treatment of Aromatase Deficiency. She is also highly rated in 6 other conditions, according to our data. Her top areas of expertise are Aromatase Deficiency, Intersex, Androgen Insensitivity Syndrome, and Congenital Lipoid Adrenal Hyperplasia.
Vincenzo Rochira is in Modena, Italy. Rochira is rated as a Distinguished expert by MediFind in the treatment of Aromatase Deficiency. He is also highly rated in 11 other conditions, according to our data. His top areas of expertise are Aromatase Deficiency, Hypogonadism, Hypogonadotropic Hypogonadism, and Isolated Hypogonadotropic Hypogonadism.
Maki Fukami is in Tokyo, Japan. Fukami is rated as a Distinguished expert by MediFind in the treatment of Aromatase Deficiency. They are also highly rated in 72 other conditions, according to our data. Their top areas of expertise are Cytochrome P450 Oxidoreductase Deficiency, Male Pseudohermaphroditism with Gynecomastia, Russell-Silver Dwarfism, and Breast Enlargement In Males.
Published Date:updated Last, April
Published By: National Institutes of Health
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