Estrogen insensitivity syndrome

Estrogen insensitivity syndrome (EIS), or estrogen resistance, is a form of congenital estrogen deficiency or hypoestrogenism which is caused by a defective estrogen receptor (ER) – specifically, the estrogen receptor alpha (ERα) – that results in an inability of estrogen to mediate its biological effects in the body. Congenital estrogen deficiency can alternatively be caused by a defect in aromatase, the enzyme responsible for the biosynthesis of estrogens, a condition which is referred to as aromatase deficiency and is similar in symptomatology to EIS.

History

Male case In 1994, a 28-year-old man was diagnosed with EIS after presenting to an orthopedic surgeon for correction of knock knees. He was fully masculinized. At 204 cm, he had tall stature. DNA sequencing revealed a homozygous mutation in ESR1, the gene that encodes the ERα. Treatment of the patient with conjugated estrogens and high doses of estradiol had no effect. The sisters had complete pubic hair maturation (i.e., Tanner stage V), while the brother had Tanner stage II pubic hair development and Tanner stage I gonadal maturation. were within normal ranges, ==Research==

Research

EIS can be experimentally induced in animals via knockout of the ER. In these so-called ERKO mice, different ERs can be disabled allowing to study the role of these receptors. • Body weight and fat distribution appear to be normal. GPERKO mice GPER knockout mice have also been generated, and exhibit obesity, cardiovascular dysfunction, insulin resistance, glucose intolerance, differences in mammary carcinogenesis and metastasis, and differences in central nervous system function. ==Androgen insensitivity syndrome==

Androgen insensitivity syndrome

In contrast to EIS, androgen insensitivity syndrome (AIS), a condition in which the androgen receptor (AR) is defective, is relatively common. This can be explained by the genetics of each syndrome. AIS is an X-linked recessive condition and thus carried over, by females, into future generations (although the most severe form, complete androgen insensitivity syndrome (CAIS), results in sterility, and hence cannot be passed on to offspring). 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. ==References==

Source: Wikipedia ↗

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