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October 3, 1966

Primary AmenorrheaA Cytogenetic and Endocrinologic Study of 18 Cases

JAMA. 1966;198(1):30-38. doi:10.1001/jama.1966.03110140080023

Eighteen cases of primary amenorrhea were studied endocrinologically and cytogenetically. A wide range of phenotypic expression and sex chromosome constitution was found, predominantly the typical picture of Turner's syndrome with an XO constitution in eight patients. Three cases of an XO/XX sex chromosome complement were found with varied somatic and gonadal manifestations of each stem line. One case of an XO/XY complement was noteworthy because of clitoral hypertrophy with total absence of testicular tissue. One case of XO/X"y" complement fulfilled the criteria for "mixed gonadal dysgenesis." Three cases of XX constitution with diverse clinical pictures were found. A heretofore unreported triad of primary amenorrhea, X-ring chromosome constitution, and severe diabetes mellitus in two cases was of particular interest.