Learn About Aromatase Deficiency

What is the definition of Aromatase Deficiency?

Aromatase deficiency is a condition characterized by reduced levels of the female sex hormone estrogen and increased levels of the male sex hormone testosterone.

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What are the causes of Aromatase Deficiency?

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.

How prevalent is Aromatase Deficiency?

The prevalence of aromatase deficiency is unknown; approximately 20 cases have been described in the medical literature.

Is Aromatase Deficiency an inherited disorder?

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.

Who are the top Aromatase Deficiency Local Doctors?
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Hospital De Pediatría Garrahan

B, AR 

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.

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University Of Modena And Reggio Emilia

Modena, IT 

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.

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National Research Institute For Child Health And Development

Tokyo, JP 

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.

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Who are the sources who wrote this article ?

Published Date:updated Last, April

Published By: National Institutes of Health

What are the Latest Advances for Aromatase Deficiency?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.