What is 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.

How do you know if you have aromatase deficiency?

In adulthood, symptoms include virilisation, absent of breast development, primary amenorrhea and infertility, and multicystic ovaries. Other symptoms include hypergonadotropic hypogonadism, polycystic ovaries, hypoplastic ovaries and tall stature.

What causes placental aromatase deficiency?

Aromatase deficiency results from autosomal recessive inheritance of mutations in the CYP19A1 gene. It gives rise to ambiguous genitalia in 46,XX fetuses. At puberty, affected girls have hypergonadotropic hypogonadism, do not develop secondary sexual characteristics, and exhibit progressive virilization.

What aromatase means?

: an enzyme or complex of enzymes that promotes the conversion of an androgen into estrogen.

How is aromatase deficiency treated?

Adult men should be treated immediately upon diagnosis: daily transdermal administration of up to 50 µg of estradiol (serum estradiol at 40 pg/ml) for 6-9 months to complete skeletal maturation. Upon epiphyseal closure, estradiol replacement may be reduced to 25 µg daily.

Do aromatase inhibitors increase testosterone?

Lowering estradiol levels, by administering an aromatase inhibitor, is associated with an increase in levels of LH, follicle-stimulating hormone (FSH) and testosterone [28,29]. Aromatase inhibitors, therefore, have been suggested as a tool to increase testosterone levels in men with low testosterone levels.

Why are aromatase inhibitors used for?

Aromatase inhibitors lower estrogen levels by stopping an enzyme in fat tissue (called aromatase) from changing other hormones into estrogen. (Estrogen can fuel the growth of breast cancer cells.) These drugs don’t stop the ovaries from making estrogen.

Do females have aromatase?

Because ovarian estrogens are circulating at high concentrations in females, the study of the role of brain aromatase has been somewhat neglected in this sex. However, females express substantial amounts of active brain aromatase that is regulated in similar ways as in males.

Where is aromatase found in the body?

The enzyme aromatase is found in a number of human tissues and cells, including ovarian granulosa cells, the placental syncytiotrophoblast, adipose and skin fibroblasts, bone, and the brain, and it locally catalyzes the conversion of C(19) steroids to estrogens.

What are the effects of an aromatase deficiency?

Aromatase deficiency is an AR disorder due to inactivating mutations in the aromatase (CYP19A1) gene. The major consequence of decreased aromatase activity is impaired conversion of androgens to estrogens.

Where is the gene for aromatase located on the chromosome?

Placental aromatase deficiency is a rare autosomal recessive disorder due to mutation in the aromatase gene, CYP19A1, which is located at chromosome 15q21.2 and codes for a 503-amino-acid protein. Inactivating mutations of CYP19A1 impair conversion of androgens to estrogens, leading to increased androgens.

Can a 46, XX DSD be caused by aromatase deficiency?

In affected 46,XX newborns a broad variability in clinical virilization of the external genitalia is observed; however, aromatase deficiency should be considered in the etiology of 46,XX DSD, after ruling out congenital adrenal hyperplasia secondary to 21-hydroxylase deficiency.

How does aromatase deficiency cause virilization of the mother?

Autosomal recessive inheritance of aromatase deficiency causes virilization of the female because of a failure to metabolize the large amounts of androstenedione and testosterone produced by the placenta. This disorder also will cause significant virilization of the mother.