Estrogen Receptor Mutation Found to Delay Puberty

biofeedback-580x410Holy Hormones Journal: This article is a clear indicator of the importance of the delicate, yet fundamental endocrine system. In this case, a mutation of the estrogen receptor has delayed puberty for an 18- year old girl. Certainly, a profound effect on her psyche.

The article states:  “Estrogen production normally begins with the brain telling the ovaries to make it, so most of his patients have a problem with brain signaling.” This points to the importance of the Neuro-Endocrine-Immune System – and the importance of nutrating the brain – the largest endocrine gland in the body.  It is my premise that we will be seeing more endocrine system imbalance – from early puberty to delayed puberty – because we are no longer have the ability to optimize our brain functioning through the foods we eat.

Delayed Puberty: First Estrogen Receptor Mutation Found in a Young Woman

July 11, 2013

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-α, which is essential to reproduction and bone health, researchers report in the New England Journal of Medicine. Estrogen levels in her blood were comparable to those of a mouse whose estrogen receptor-α gene has been deleted.

Interestingly the first mutation in this receptor was reported nearly 20 years earlier in the NEJM in a 28-year old man with knock-knees and signs of insulin resistance. Studies showed his testosterone levels were normal and, although his estrogen and related hormone levels were high, he also had essentially no response to estrogen. The research team, led by Children’s Hospital Medical Center in Cincinnati, found the estrogen receptor defect, concluding that estrogen is important to bone health in men as well as women.

The estrogen receptor-α mutation found in the female is slightly different but also results in profound estrogen resistance in women, said Layman, the new study’s corresponding author. The major known impacts of estrogen in women are enabling reproduction, breast development, and bone health.

While generally healthy, the young woman sought medical help due to her lack of breast development and menstruation as well as lingering, lower-abdominal pain. Studies by Dr. Earl “Sandy” W. Stradtman Jr., a reproductive endocrinologist in Birmingham, Ala., revealed the markedly high estrogen levels as well as multiple, large ovarian cysts. Stradtman referred her to Layman, an expert in delayed puberty.

Overwhelmingly, delayed puberty results from insufficient estrogen, but the bottom line is similar for this woman because estrogen’s effect is missing, Layman said. Estrogen production normally begins with the brain telling the ovaries to make it, so most of his patients have a problem with brain signaling.

Read full article…

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Author: Leslie Carol Botha

Author, publisher, radio talk show host and internationally recognized expert on women's hormone cycles. Social/political activist on Gardasil the HPV vaccine for adolescent girls. Co-author of "Understanding Your Mood, Mind and Hormone Cycle." Honorary advisory board member for the Foundation for the Study of Cycles and member of the Society for Menstrual Cycle Research.