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

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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: @@
-{{Short description|A rare genetic condition affecting estrogen receptor function}}
+{{SI}}
-{{Medical condition (new)}}
+{{Infobox medical condition
+| name            = Estrogen insensitivity syndrome
-'''Estrogen insensitivity syndrome''' (EIS) is a rare genetic disorder 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 lack of response to estrogen despite normal or elevated levels of the hormone in the body.
+| image           = [[File:Protein_ESR1_PDB_1a52.png|250px]]
+| caption         = Crystal structure of the estrogen receptor alpha ligand-binding domain
-==Pathophysiology==
+| synonyms        = Estrogen resistance
-Estrogen insensitivity syndrome is primarily caused by mutations in the [[ESR1 gene]], which encodes the estrogen receptor alpha (ER_). This receptor is crucial for mediating the effects of estrogen in various tissues, including the [[breast]], [[uterus]], and [[bone]]. In individuals with EIS, mutations in the ESR1 gene result in a dysfunctional receptor that cannot bind estrogen effectively, leading to a lack of estrogenic action in target tissues.
+| field           = [[Endocrinology]]
+| symptoms        = [[Primary amenorrhea]], [[infertility]], [[osteoporosis]], [[insulin resistance]]
-==Clinical Presentation==
+| onset           = [[Puberty]]
-The clinical manifestations of estrogen insensitivity syndrome can vary widely, but common features include:
+| duration        = Lifelong
+| causes          = [[Genetic mutation]] in the [[estrogen receptor]]
-* '''Delayed puberty''': Individuals with EIS often experience delayed or absent [[puberty]], characterized by a lack of breast development and primary [[amenorrhea]] (absence of menstrual periods).
+| risks           = [[Osteoporosis]], [[cardiovascular disease]]
-* '''Infertility''': Due to the lack of estrogenic stimulation, affected individuals may have underdeveloped reproductive organs, leading to infertility.
+| diagnosis       = [[Genetic testing]], [[hormone level testing]]
-* '''Osteoporosis''': Estrogen plays a critical role in bone health, and its absence can lead to decreased bone density and increased risk of [[osteoporosis]].
+| differential    = [[Androgen insensitivity syndrome]], [[Turner syndrome]]
-* '''Tall stature''': Some individuals may exhibit tall stature due to delayed closure of the [[epiphyseal plate]]s in bones.
+| treatment       = [[Hormone replacement therapy]], [[symptomatic treatment]]
+| frequency       = Extremely rare
-==Diagnosis==
+}}
-Diagnosis of estrogen insensitivity syndrome involves a combination of clinical evaluation, hormonal assays, and genetic testing. Key diagnostic steps include:
+'''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 ==
-* '''Hormonal assays''': Measurement of serum estrogen levels, which are typically normal or elevated, alongside low levels of estrogen-responsive proteins.
+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.
-* '''Genetic testing''': Identification of mutations in the ESR1 gene through [[DNA sequencing]] can confirm the diagnosis.
+== 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:
-==Management==
+* Lack of breast development
-There is currently no cure for estrogen insensitivity syndrome, and management focuses on addressing the symptoms and complications associated with the condition. Treatment options may include:
+* Primary [[amenorrhea]]
+* [[Infertility]]
-* '''Hormone replacement therapy''': While traditional estrogen therapy is ineffective, other hormonal treatments may be considered to induce secondary sexual characteristics and manage bone health.
+* [[Osteoporosis]]
-* '''Fertility treatment''': Assisted reproductive technologies may be explored for individuals seeking to conceive.
+In males, the condition may present with:
-* '''Bone health management''': Calcium and vitamin D supplementation, along with other medications, may be used to prevent osteoporosis.
+* Lack of pubertal development
+* Gynecomastia
-==Prognosis==
+* Infertility
-The prognosis for individuals with estrogen insensitivity syndrome varies depending on the severity of the condition and the effectiveness of symptom management. With appropriate medical care, many individuals can lead healthy lives, although challenges related to fertility and bone health may persist.
+== 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.
-==Related pages==
+== 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.
+== See also ==
 * [[Estrogen receptor]]
-* [[Hormone replacement therapy]]
+* [[Hormone resistance]]
-* [[Genetic disorder]]
+* [[Genetic disorders]]
-* [[Osteoporosis]]
+{{Genetic disorders}}
 [[Category:Genetic disorders]]
 [[Category:Endocrine diseases]]
-[[Category:Rare diseases]]