Our purpose was to determine the relationship of diet, exercise, and amenorrhea with bone mineral status in trained young women. Bone mineral density of the lumbar spine was significantly lower in amenorrheic compared to normally menstruating runners. Circulating estradiol was also significantly lower. No significant differences between the two groups were found in body composition, maximum aerobic power, or amount of training per week. A 3-day dietary record showed that the amenorrheic women reported a significantly lower daily energy intake, but no difference in the calcium intake. Protein intake was less than the US Recommended Dietary Allowance in 82% of amenorrheic women and 35% of eumenorrheic women. Abnormal eating behaviors may be associated with the development of amenorrhea. Our results show that when weight-bearing exercise and a low energy intake are associated with amenorrhea, the accretion of a large bone mass in young trained women is not favored.

We describe a family in which four women had menstrual irregularities and a partial deletion of the long arm of the X chromosome (Xq). Three of the four women had premature ovarian failure (at the ages of 24 to 37 years). Chromosome-banding studies initially suggested that a terminal portion of Xq was deleted. However, DNA-hybridization studies showed that an interstitial portion of Xq was deleted and that the affected women had a 46,XX,del(X)(pter-q21.3::q27-qter) karyotype. These findings help clarify the role of Xq in ovarian function and indicate that the accurate description of such abnormalities requires a combination of cytogenetic and DNA-hybridization analysis.

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