Prof Shires has been following a 19 year old girl who had what had been called secondary amenorrhea because she had some spotting for 4 months, but on further history she reported never using more than 1-2 pads/day. Hormonal evaluation revealed elevated serum gonodotropin levels, normal prolactin, and low estradiol and IGF-1. However, her breast development was consistent with Tanner IV/V and her pelvic US reported visualization of a normal size uterus, without a thickened endometrium and normal ovaries.
We saw her during our endocrine clinic last week and hypothesized about the possibility of Turner mosaicism. Her karyotype returned 4 days later confirming this.
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