Summarized by Plex Health
Last Updated: 02 May 2022
a case of aromatase deficiency due to a novel cyp19a1 mutation. "a case of aromatase deficiency due to a novel cyp19a1 mutation.", by Gagliardi L, Scott HS, Feng J, Torpy DJ. F1: Clinical photographs taken at the patient’s laparoscopy. The hypoplastic uterus and adnexae, including bilateral streak ovaries are shown....

Aromatase deficiency is a condition identified by lowered levels of the female sex hormonal agent estrogen and increased levels of the male sex hormone testosterone. Females with aromatase deficiency have a common female chromosome pattern yet are born with outside genitalia that do not appear plainly female or male. In teenage years, most affected ladies do not develop secondary sex-related characteristics, such as breast development and menstruation durations. Men with this condition have a regular male chromosome pattern and are birthed with male outside genitalia. There are other features related to aromatase deficiency that can affect both females and males. The abnormal bone development causes reduced mineralization of bones and thinning of the bones, which can lead to bone cracks with little injury. Men and women with aromatase deficiency can have abnormally high blood glucose since the body does not respond correctly to the hormonal agent insulin. Women that are pregnant with unborn children that have aromatase deficiency typically experience mild symptoms of the disorder although they themselves do not have the disorder.

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