Estrogen insensitivity syndrome
Estrogen Insensitivity Syndrome (pronunciation: es-tro-gen in-sen-si-tiv-ity syn-drome) is a rare genetic disorder that affects the body's ability to respond to estrogen, a hormone that plays a crucial role in sexual and reproductive development. The condition is characterized by a resistance to the action of estrogen due to mutations in the estrogen receptor gene.
Etymology
The term "Estrogen Insensitivity Syndrome" is derived from the hormone "estrogen" and the term "insensitivity", which refers to the body's inability to respond to the hormone. The term "syndrome" is used to describe a collection of symptoms that often occur together.
Symptoms
The symptoms of Estrogen Insensitivity Syndrome can vary greatly from person to person. However, common symptoms include delayed puberty, lack of menstruation (amenorrhea), and infertility. In some cases, individuals may also exhibit tall stature and long limbs due to prolonged growth periods.
Causes
Estrogen Insensitivity Syndrome is caused by mutations in the ESR1 gene, which provides instructions for making a protein called an estrogen receptor. This receptor binds to estrogen, allowing it to regulate various functions in the body. Mutations in the ESR1 gene can disrupt the function of the estrogen receptor, making it insensitive to estrogen.
Diagnosis
Diagnosis of Estrogen Insensitivity Syndrome is often made through a combination of physical examination, medical history, and genetic testing. Genetic testing can identify mutations in the ESR1 gene, confirming the diagnosis.
Treatment
There is currently no cure for Estrogen Insensitivity Syndrome. Treatment is focused on managing symptoms and may include hormone replacement therapy to help trigger puberty and regulate menstrual cycles.
See Also
External links
- Medical encyclopedia article on Estrogen insensitivity syndrome
- Wikipedia's article - Estrogen insensitivity syndrome
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