Featured Article Academic Journal Main Category: Women's Health / Gynecology Article Date: 15 Jul 2013 - 1:00 PDT

Current ratings for: World-First Estrogen Defect Discovery In Woman Without Breasts Or Menstrual Periods

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A genetic receptor mutation that blocks the action of estrogen has been discovered for the first time in a female, according to a report published in the New England Journal of Medicine.

The 18-year-old woman was showing classic symptoms of having lower estrogen levels than normal after experiencing no breast development or menstruation. But researchers at Augusta's Medical College of Georgia found that the female had extremely high levels of estrogen in her blood.

Dr. Lawrence Layman, head of reproductive endocrinology, infertility and genetics at the medical school, said: "Her body totally ignores estrogen. Even at levels that are 10 to 15 times normal, it has no effect."

Dr. Layman adds that in laboratory studies, it took 240 times the normal level of estrogen to gain a response from the woman's receptor.

There are two types of estrogen receptor that have been confirmed by research, the authors point out: estrogen receptor-alpha, and estrogen receptor-beta.

Genetic testing revealed that this woman had a mutation in estrogen receptor-alpha, the type essential for bone health and reproduction, the researchers say. They add that the estrogen levels in her blood were as low as those seen in research mice whose receptor-alpha genes have been removed.

The researchers explain that the woman's defected estrogen receptor is "unable to use the estrogen within her body, control how much of it is made or control its result." They explain that the woman had cystic ovaries because her body was in continual production of follicles, when usually the body provides just one a month as part of the menstrual cycle.

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World-First Estrogen Defect Discovery In Woman Without Breasts Or Menstrual Periods

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