What is the pathogenesis of spontaneous 46,XX primary ovarian insufficiency?

Updated: Oct 14, 2019
  • Author: Kristi A Tough DeSapri, MD; Chief Editor: Richard Scott Lucidi, MD, FACOG  more...
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Spontaneous 46,XX primary ovarian insufficiency (POI), (also known as premature ovarian failure [POF] and premature menopause) affects 1 in 10,000 women by age 20 years, 1 in 1000 women by age 30 years, 1 in 250 women by age 35 years, and 1 in 100 women by age 40 years. [13] POI is hypergonadotropic hypogonadism, characterized by oligomenorrhea/amenorrhea, estrogen deficiency, and its associated symptoms such as hot flashes, vaginal dryness, dyspareunia, and insomnia. For more detailed information, see Spontaneous Primary Ovarian Insufficiency and Premature Ovarian Failure.

The fragile X permutation accounts for approximately 6% of cases of overt POI. It is caused by an increased number of CGG repeats in the FMR1 gene located on the long arm of the X chromosome. In the permutation, the number of CGG repeats ranges from 55-200. Approximately 21% of permutation carriers have POF/POI compared with 1% in the general population. [14] Autoimmune oophoritis occurs in 3-4% of POI cases. [15]

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