Estrogen insensitivity syndrome

WikiDoc Resources for Estrogen insensitivity syndrome
Articles
Most recent articles on Estrogen insensitivity syndrome Most cited articles on Estrogen insensitivity syndrome Review articles on Estrogen insensitivity syndrome Articles on Estrogen insensitivity syndrome in N Eng J Med, Lancet, BMJ
Media
Powerpoint slides on Estrogen insensitivity syndrome Images of Estrogen insensitivity syndrome Photos of Estrogen insensitivity syndrome Podcasts & MP3s on Estrogen insensitivity syndrome Videos on Estrogen insensitivity syndrome
Evidence Based Medicine
Cochrane Collaboration on Estrogen insensitivity syndrome Bandolier on Estrogen insensitivity syndrome TRIP on Estrogen insensitivity syndrome
Clinical Trials
Ongoing Trials on Estrogen insensitivity syndrome at Clinical Trials.gov Trial results on Estrogen insensitivity syndrome Clinical Trials on Estrogen insensitivity syndrome at Google
Guidelines / Policies / Govt
US National Guidelines Clearinghouse on Estrogen insensitivity syndrome NICE Guidance on Estrogen insensitivity syndrome NHS PRODIGY Guidance FDA on Estrogen insensitivity syndrome CDC on Estrogen insensitivity syndrome
Books
Books on Estrogen insensitivity syndrome
News
Estrogen insensitivity syndrome in the news Be alerted to news on Estrogen insensitivity syndrome News trends on Estrogen insensitivity syndrome
Commentary
Blogs on Estrogen insensitivity syndrome
Definitions
Definitions of Estrogen insensitivity syndrome
Patient Resources / Community
Patient resources on Estrogen insensitivity syndrome Discussion groups on Estrogen insensitivity syndrome Patient Handouts on Estrogen insensitivity syndrome Directions to Hospitals Treating Estrogen insensitivity syndrome Risk calculators and risk factors for Estrogen insensitivity syndrome
Healthcare Provider Resources
Symptoms of Estrogen insensitivity syndrome Causes & Risk Factors for Estrogen insensitivity syndrome Diagnostic studies for Estrogen insensitivity syndrome Treatment of Estrogen insensitivity syndrome
Continuing Medical Education (CME)
CME Programs on Estrogen insensitivity syndrome
International
Estrogen insensitivity syndrome en Espanol Estrogen insensitivity syndrome en Francais
Business
Estrogen insensitivity syndrome in the Marketplace Patents on Estrogen insensitivity syndrome
Experimental / Informatics
List of terms related to Estrogen insensitivity syndrome

The estrogen insensitivity syndrome (EIS) is a form of congenital estrogen deficiency caused by a defective estrogen receptor (ER). Thus, estrogens cannot be recognized and initiate their biological action.

In humans, the condition is very rare and occurs sporadic. Only a few cases have been described. A reported male with EIS was tall as estrogens are not present to close the epiphyseal line, at risk for osteoporosis, and sterile (suggesting that estrogens are necessary for reproduction).

ERKO mice

Estrogen insensitivity syndrome of can be experimentally induced in animals, typically mice, by knocking out the estrogen receptor. In so-called ERKO mice different estrogens receptors can be disabled allowing to study the role of such receptors. ERKO mice show development of the respective female or male reproductive systems, and are sterile if both, alpha and beta estrogen receptors are defective. The hypoplastic uterus does not respond to exogenous stimulation by estrogens. Males are infertile with atrophy in the testes. Bones age is delayed and bones are more brittle. Variations in these patterns can be achieved by selectively disabling the alpha or beta ERs.

AIS

In contrast to EIS, the androgen insensitivity syndrome (AIS) where the androgen receptor is defective is relatively common. This can be explained by the genetics of each syndrome. AIS is a X-linked recessive condition and thus carried over into future generations. EIS is not compatible with reproduction, thus each occurrence in humans would have to be a de-novo mutation and is not transmitted to offspring.

Congenital estrogen deficiency can also be caused by a defect in the aromatizing enzyme.