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.
Jagiello GM, Kaminetsky HA, Ricks P, Ryan RJ. Primary AmenorrheaA Cytogenetic and Endocrinologic Study of 18 Cases. JAMA. 1966;198(1):30–38. doi:10.1001/jama.1966.03110140080023
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