General Medical Information

Estrogen Receptor Defects

Joe Leigh Simpson

The estrogen receptor gene consists of eight exons and is coded on chromosome 6q24®27. Analogous to the androgen receptor gene, there is a DNA-binding region (exons 2 and 3) and an estrogen-binding domain (exons 4 though 8).

An estrogen receptor mutation was found by Lubahn in a 28-year-old man who showed normal male sexual development. Incomplete epiphyseal closure led to tall stature. Serum gonadotropin and estrogen levels were elevated; neither decreased after exogenous estrogen administration. The molecular basis proved to be a homozygous transition in exon 2 that resulted in a premature stop codon.