Familial Multiplicity of Estrogen Insensitivity Associated With a Loss-of-Function ESR1 Mutation.

ABSTRACT:

Context

Estrogens influence many physiological processes in mammals, including reproduction. Estrogen peripheral actions are mainly mediated through estrogen receptors (ERs) α and β, encoded by ESR1 and ESR2 genes, respectively.

Objective

The study's aim was to describe a family in which 3 members presented with estrogen insensitivity.

Design and setting

Clinical evaluation and genetic and mutational analysis were performed in an academic medical center.

Patients and interventions

An ESR1 mutation was identified in 2 sisters and 1 brother, originating from a consanguineous Algerian family, who did not enter puberty and presented with delayed bone maturation consistent with estrogen insensitivity. The 2 sisters had enlarged multicystic ovaries. Hormonal evaluati

SUBMITTER: Bernard V 

PROVIDER: S-EPMC5413105 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature