Aromatase deficiency
Aromatase Deficiency
Aromatase deficiency is a rare genetic disorder characterized by an individual's inability to produce the enzyme aromatase. This enzyme is responsible for the conversion of androgens into estrogens, two important types of hormones in the human body.
Pronunciation
Aromatase deficiency: /əˈroʊməˌteɪz dɪˈfɪʃənsi/
Etymology
The term "aromatase" is derived from the word "aroma," which refers to the ring-like structure of the molecules that the enzyme acts upon. The term "deficiency" comes from the Latin word "deficientia," meaning "a lack or shortage."
Symptoms
Individuals with aromatase deficiency often exhibit symptoms such as virilization of the mother during pregnancy, ambiguous genitalia in female newborns, and progressive virilization in postpubertal females. Males typically do not show symptoms but may have tall stature and osteoporosis.
Diagnosis
Diagnosis of aromatase deficiency is typically made through a combination of clinical findings and laboratory testing. This includes measuring the levels of certain hormones in the blood, such as testosterone and estradiol, and genetic testing to identify mutations in the CYP19A1 gene, which provides instructions for making aromatase.
Treatment
Treatment for aromatase deficiency typically involves hormone replacement therapy to correct the imbalance of hormones in the body. This can include the administration of estrogen in females to promote normal sexual development and prevent bone loss.
Related Terms
External links
- Medical encyclopedia article on Aromatase deficiency
- Wikipedia's article - Aromatase deficiency
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