Estrogen resistance syndrome

Definition:

Estrogen resistance syndrome is a rare, genetic endocrine disease, characterized by estrogen-receptor (ESR) insensitivity to estrogens. A few patients who have mutations in ESR1 gene have been reported. An adult male who was tall and had incomplete epiphyseal closure, and a young woman with delayed puberty have been described.

References:

[1]. E P Smith, et al. Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man. N Engl J Med. 1994 Oct 20;331(16):1056-61. [Content Brief]

[2]. Samuel D Quaynor, et al. Delayed puberty and estrogen resistance in a woman with estrogen receptor α variant. N Engl J Med. 2013 Jul 11;369(2):164-71. [Content Brief]

[3]. Valérie Bernard, et al. Familial Multiplicity of Estrogen Insensitivity Associated With a Loss-of-Function ESR1 Mutation. J Clin Endocrinol Metab. 2017 Jan 1;102(1):93-99. [Content Brief]

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