Aromatase deficiency
Last updated 26 Oct 2023
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Aromatase deficiency is a condition characterised by reduced levels of the female sex hormone estrogen and increased levels of the male sex hormone testosterone.
Description
Aromatase deficiency is a condition characterised by reduced levels of the female sex hormone estrogen and increased levels of the male sex hormone testosterone.
Females with aromatase deficiency have a typical female chromosome pattern (46,XX) but are born with external genitalia that do not appear clearly female or male. These individuals typically have normal internal reproductive organs, but develop ovarian cysts early in childhood, which impair the release of egg cells from the ovaries (ovulation). In adolescence, most affected females do not develop secondary sexual characteristics, such as breast growth and menstrual periods. They tend to develop acne and excessive body hair growth (hirsutism).
Men with this condition have a typical male chromosome pattern (46,XY) and are born with male external genitalia. Some men with this condition have decreased sex drive, abnormal sperm production, or testes that are small or undescended (cryptorchidism).
There are other features associated with aromatase deficiency that can affect both males and females. Affected individuals are abnormally tall because of excessive growth of long bones in the arms and legs. The abnormal bone growth results in slowed mineralization of bones (delayed bone age) and thinning of the bones (osteoporosis), which can lead to bone fractures with little trauma. In affected individuals, the body does not respond correctly to the hormone insulin, so people with aromatase deficiency can have abnormally high blood sugar (glucose), a condition known as hyperglycemia. In addition, people with armoatase deficiency can have excessive weight gain and a fatty liver.
Women who are pregnant with fetuses that have aromatase deficiency often experience mild symptoms of the disorder even though they themselves do not have the disorder. These women may develop hirsutism, acne, an enlarged clitoris (clitoromegaly), and a deep voice. These features can appear as early as 12 weeks of pregnancy and go away soon after delivery.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
46,XX disorder of sex development (DSD) due to placental aromatase deficiency
Estrogen synthetase deficiency
Oestrogen synthetase deficiency
Placental aromatase deficiency
Related patient information and medicines
Patient information leaflet
Can I take Anastrozole and Venlafaxine together?
There... It is generally considered safe to take these two medications together. Why this happens Anastrozole is an aromatase inhibitor used to treat breast cancer, and venlafaxine is an antidepressant (SNRI). They are processed by different pathways in the liver and do not interfere with each other's effectiveness or increase the risk of side.
Patient information leaflet
Can I take Anastrozole and Simvastatin together?
However, both med... Taking them together might make it more difficult to determine which medicine is causing these symptoms if they occur. Why this happens Anastrozole is an aromatase inhibitor used for breast cancer, and simvastatin is a statin used for cholesterol. They are processed by different pathways in the liver and do not interfere with.
Patient information leaflet
Can I take Folic acid and St John's wort together?
There is no known significant interaction between folic acid and St John's wort. It is generally considered safe to take these two together. Why this happens Folic acid is a water-soluble B vitamin, while St John's wort is an herbal remedy primarily used for low mood. They are processed by different pathways in the body and do not interfere with.
Patient information leaflet
Macrocytosis and macrocytic anaemia
Macrocytosis refers to red blood cells which are larger than normal. It does not cause any symptoms in itself. Macrocytosis symptoms You may also find relevant information in our other separate leaflet called What is blood. Macrocytosis can exist without anaemia. Macrocytosis itself does not cause any symptoms but can be a sign of low levels of.
Patient information leaflet
Alpha-1 antitrypsin deficiency
Alpha-1 antitrypsin deficiency is an inherited genetic condition. A genetic condition is one that can be passed on from parents through genes. In alpha-1 antitrypsin deficiency the result of a genetic abnormality leads to lung and, in some people, liver damage. Lung symptoms are the most common and include shortness of breath, cough and wheezing..
Patient information leaflet
Gastrointestinal malabsorption
Gastrointestinal malabsorption syndrome means a failure to fully absorb digested foods from the gut (bowel) into your body. There are many different causes. Prolonged intestinal malabsorption may cause problems because of a lack of carbohydrates, proteins, fats, minerals and vitamins that are essential to keep you healthy. The treatment will.
Further reading and references
- Aromatase deficiency; MedlinePlus, National Library of Medicine.
- Baykan EK, Erdogan M, Ozen S, Darcan S, Saygili LF. Aromatase deficiency, a rare syndrome: case report. J Clin Res Pediatr Endocrinol. 2013;5(2):129-32. doi: 10.4274/Jcrpe.970.
- Belgorosky A, Guercio G, Pepe C, Saraco N, Rivarola MA. Genetic and clinical spectrum of aromatase deficiency in infancy, childhood and adolescence. Horm Res. 2009;72(6):321-30. doi: 10.1159/000249159. Epub 2009 Oct 21.
- Bulun SE. Aromatase and estrogen receptor alpha deficiency. Fertil Steril. 2014 Feb;101(2):323-9. doi: 10.1016/j.fertnstert.2013.12.022.
- Ludwikowski B, Heger S, Datz N, Richter-Unruh A, Gonzalez R. Aromatase deficiency: rare cause of virilization. Eur J Pediatr Surg. 2013 Oct;23(5):418-22. doi: 10.1055/s-0032-1324798. Epub 2012 Oct 23. No abstract available.
- Rochira V, Carani C. Aromatase deficiency in men: a clinical perspective. Nat Rev Endocrinol. 2009 Oct;5(10):559-68. doi: 10.1038/nrendo.2009.176. Epub 2009 Aug 25.
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