Estrogen insensitivity syndrome

Estrogen Insensitivity Syndrome (EIS) is a rare disorder characterized by an individual's resistance to the hormone estrogen. This condition is caused by mutations in the estrogen receptor gene (ESR1), which leads to the production of abnormal estrogen receptors that cannot bind to estrogen or activate the necessary cellular responses.

Causes

EIS is caused by mutations in the ESR1 gene. This gene provides instructions for making a protein called an estrogen receptor, which is found in cells throughout the body. Estrogen receptors bind to estrogen, a hormone that regulates many aspects of the female reproductive system. Mutations in the ESR1 gene lead to the production of abnormal estrogen receptors that cannot bind to estrogen or activate the necessary cellular responses.

Symptoms

The symptoms of EIS can vary greatly among affected individuals. Some may have no symptoms, while others may experience:

• Delayed puberty
• Absence of menstruation (amenorrhea)
• Infertility
• Tall stature
• Osteoporosis

Diagnosis

Diagnosis of EIS is based on the clinical symptoms, genetic testing confirming a mutation in the ESR1 gene, and the exclusion of other similar conditions.

Treatment

There is currently no cure for EIS. Treatment is symptomatic and supportive, focusing on managing the individual symptoms and complications of the condition.

See Also

• Estrogen
• ESR1
• Amenorrhea
• Osteoporosis

References

Estrogen insensitivity syndrome Resources
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