Estrogen insensitivity syndrome: Difference between revisions

Estrogen insensitivity syndrome
Synonyms	Estrogen resistance
Pronounce	N/A
Specialty	N/A
Symptoms	Primary amenorrhea, infertility, osteoporosis, insulin resistance
Complications	N/A
Onset	Puberty
Duration	Lifelong
Types	N/A
Causes	Genetic mutation in the estrogen receptor
Risks	Osteoporosis, cardiovascular disease
Diagnosis	Genetic testing, hormone level testing
Differential diagnosis	Androgen insensitivity syndrome, Turner syndrome
Prevention	N/A
Treatment	Hormone replacement therapy, symptomatic treatment
Medication	N/A
Prognosis	N/A
Frequency	Extremely rare
Deaths	N/A

Latest revision as of 15:11, 6 April 2025

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC

Estrogen Insensitivity Syndrome is a rare genetic condition characterized by the body's inability to respond to estrogen, a key hormone in the development and regulation of the female reproductive system and secondary sexual characteristics. This condition is caused by mutations in the estrogen receptor gene, leading to a non-functional receptor that cannot bind estrogen effectively.

Pathophysiology[edit]

The syndrome results from mutations in the ESR1 gene, which encodes the estrogen receptor alpha. This receptor is crucial for mediating the effects of estrogen in various tissues, including the breast, uterus, and bone. In individuals with estrogen insensitivity syndrome, the receptor is unable to bind estrogen, leading to a lack of estrogenic effects in the body.

Clinical Presentation[edit]

Individuals with estrogen insensitivity syndrome typically present with symptoms of estrogen deficiency despite normal or elevated levels of circulating estrogen. In females, this may include:

Lack of breast development
Primary amenorrhea
Infertility
Osteoporosis

In males, the condition may present with:

Lack of pubertal development
Gynecomastia
Infertility

Diagnosis[edit]

Diagnosis of estrogen insensitivity syndrome involves a combination of clinical evaluation, hormonal assays, and genetic testing. Elevated levels of circulating estrogen with a lack of expected physiological response suggest the condition. Genetic testing can confirm mutations in the ESR1 gene.

Management[edit]

Management of estrogen insensitivity syndrome is primarily supportive and symptomatic. Hormone replacement therapy may be considered, although its effectiveness is limited due to the receptor's insensitivity. Management of osteoporosis and other complications is crucial.

@@ Line 1: / Line 1: @@
-'''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.
+{{SI}}
+{{Infobox medical condition
-== Causes ==
+| name            = Estrogen insensitivity syndrome
+| image           = [[File:Protein_ESR1_PDB_1a52.png|250px]]
-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.
+| caption         = Crystal structure of the estrogen receptor alpha ligand-binding domain
+| synonyms        = Estrogen resistance
-== Symptoms ==
+| field           = [[Endocrinology]]
+| symptoms        = [[Primary amenorrhea]], [[infertility]], [[osteoporosis]], [[insulin resistance]]
-The symptoms of EIS can vary greatly among affected individuals. Some may have no symptoms, while others may experience:
+| onset           = [[Puberty]]
+| duration        = Lifelong
-* Delayed puberty
+| causes          = [[Genetic mutation]] in the [[estrogen receptor]]
-* Absence of menstruation ([[amenorrhea]])
+| risks           = [[Osteoporosis]], [[cardiovascular disease]]
+| diagnosis       = [[Genetic testing]], [[hormone level testing]]
+| differential    = [[Androgen insensitivity syndrome]], [[Turner syndrome]]
+| treatment       = [[Hormone replacement therapy]], [[symptomatic treatment]]
+| frequency       = Extremely rare
+}}
+'''Estrogen Insensitivity Syndrome''' is a rare genetic condition characterized by the body's inability to respond to [[estrogen]], a key hormone in the development and regulation of the female reproductive system and secondary sexual characteristics. This condition is caused by mutations in the [[estrogen receptor]] gene, leading to a non-functional receptor that cannot bind estrogen effectively.
+== Pathophysiology ==
+The syndrome results from mutations in the [[ESR1]] gene, which encodes the estrogen receptor alpha. This receptor is crucial for mediating the effects of estrogen in various tissues, including the [[breast]], [[uterus]], and [[bone]]. In individuals with estrogen insensitivity syndrome, the receptor is unable to bind estrogen, leading to a lack of estrogenic effects in the body.
+== Clinical Presentation ==
+Individuals with estrogen insensitivity syndrome typically present with symptoms of estrogen deficiency despite normal or elevated levels of circulating estrogen. In females, this may include:
+* Lack of breast development
+* Primary [[amenorrhea]]
+* [[Infertility]]
+* [[Osteoporosis]]
+In males, the condition may present with:
+* Lack of pubertal development
+* Gynecomastia
 * Infertility
-* Tall stature
-* Osteoporosis
 == Diagnosis ==
+Diagnosis of estrogen insensitivity syndrome involves a combination of clinical evaluation, hormonal assays, and genetic testing. Elevated levels of circulating estrogen with a lack of expected physiological response suggest the condition. Genetic testing can confirm mutations in the ESR1 gene.
-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.
+== Management ==
+Management of estrogen insensitivity syndrome is primarily supportive and symptomatic. Hormone replacement therapy may be considered, although its effectiveness is limited due to the receptor's insensitivity. Management of osteoporosis and other complications is crucial.
-== Treatment ==
+== See also ==
+* [[Estrogen receptor]]
-There is currently no cure for EIS. Treatment is symptomatic and supportive, focusing on managing the individual symptoms and complications of the condition.
+* [[Hormone resistance]]
+* [[Genetic disorders]]
-== See Also ==
+{{Genetic disorders}}
-* [[Estrogen]]
-* [[ESR1]]
-* [[Amenorrhea]]
-* [[Osteoporosis]]
-== References ==
-{{reflist}}
-[[Category:Medical conditions]]
 [[Category:Genetic disorders]]
-[[Category:Endocrine disorders]]
+[[Category:Endocrine diseases]]
-{{stub}}