July 11, 2013 — A receptor mutation that essentially blocks estrogen's action has been identified for the first time in a female, researchers report.
The 18-year-old wasn't experiencing breast development or menstruation, classic symptoms of too little estrogen, the usual cause of delayed puberty. Subsequent studies revealed instead sky-high levels of the sex hormone in her blood, said Dr. Lawrence C. Layman, Chief of the Section of Reproductive Endocrinology, Infertility and Genetics at the Medical College of Georgia at Georgia Regents University.
"Her body totally ignores estrogen," Layman said. "Even at levels that are 10 to 15 times normal, it has no effect." In fact, in laboratory studies, 240 times the normal level was required to get a response out of the receptor.
There are two confirmed estrogen receptors, and genetic testing subsequently determined she had a mutation in estrogen receptor-
The 18-year-old wasn't experiencing breast development or menstruation, classic symptoms of too little estrogen, the usual cause of delayed puberty. Subsequent studies revealed instead sky-high levels of the sex hormone in her blood, said Dr. Lawrence C. Layman, Chief of the Section of Reproductive Endocrinology, Infertility and Genetics at the Medical College of Georgia at Georgia Regents University.
"Her body totally ignores estrogen," Layman said. "Even at levels that are 10 to 15 times normal, it has no effect." In fact, in laboratory studies, 240 times the normal level was required to get a response out of the receptor.
There are two confirmed estrogen receptors, and genetic testing subsequently determined she had a mutation in estrogen receptor-