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EIS results when the function of the estrogen receptor alpha (ERα) is impaired. The ERα protein (pictured) mediates most of the effects of estrogens in the human body.
Specialty
Endocrinology
Estrogen insensitivity syndrome (EIS), or estrogen resistance, is a form of congenital estrogen deficiency or hypoestrogenism[2] 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.[3] 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.[4]
EIS is an extremely rare occurrence.[5][6] As of 2016, there have been three published reports of EIS, involving a total of five individuals.[6] The reports include a male case published in 1994,[7][8] a female case published in 2013,[5][9] and a familial case involving two sisters and a brother which was published in 2016.[6]
EIS is analogous to androgen insensitivity syndrome (AIS), a condition in which the androgen receptor (AR) is defective and insensitive to androgens, such as testosterone and dihydrotestosterone (DHT). The functional opposite of EIS is hyperestrogenism, for instance that seen in aromatase excess syndrome.
^Layman LC (2013). "The genetic basis of female reproductive disorders: etiology and clinical testing". Mol. Cell. Endocrinol. 370 (1–2): 138–48. doi:10.1016/j.mce.2013.02.016. PMC 3767392. PMID 23499866.
^Rochira V, Balestrieri A, Madeo B, Baraldi E, Faustini-Fustini M, Granata AR, Carani C, et al. (June 2001). "Congenital estrogen deficiency: in search of the estrogen role in human male reproduction". Molecular and Cellular Endocrinology. 178 (1–2): 107–15. doi:10.1016/S0303-7207(01)00432-4. PMID 11403900. S2CID 24955164.
^Smith EP, Boyd J, Frank GR, Takahashi H, Cohen RM, Specker B, Williams TC, Lubahn DB, Korach KS (1994). "Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man". N. Engl. J. Med. 331 (16): 1056–61. doi:10.1056/NEJM199410203311604. PMID 8090165.
^Rochira V, Balestrieri A, Madeo B, Spaggiari A, Carani C (July 2002). "Congenital estrogen deficiency in men: a new syndrome with different phenotypes; clinical and therapeutic implications in men". Molecular and Cellular Endocrinology. 193 (1–2): 19–28. doi:10.1016/S0303-7207(02)00092-8. PMID 12160998. S2CID 23063975.
^ abJ. Larry Jameson, Leslie J. De Groot (25 February 2015). Endocrinology: Adult and Pediatric. Elsevier Health Sciences. pp. 238–. ISBN 978-0-323-32195-2.
^ abcBernard V, Kherra S, Francou B, Fagart J, Viengchareun S, Guéchot J, Ladjouze A, Guiochon-Mantel A, Korach KS, Binart N, Lombès M, Christin-Maitre S (2017). "Familial Multiplicity of Estrogen Insensitivity Associated With a Loss-of-Function ESR1 Mutation". J. Clin. Endocrinol. Metab. 102 (1): 93–99. doi:10.1210/jc.2016-2749. PMC 5413105. PMID 27754803.
^Cite error: The named reference SmithBoyd1994 was invoked but never defined (see the help page).
^Cite error: The named reference pmid8701078 was invoked but never defined (see the help page).
^Cite error: The named reference QuaynorStradtman2013 was invoked but never defined (see the help page).
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