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November 1971

The XX Turner Phenotype With Unilateral Streak Gonad and Absent Uterus

Author Affiliations

Los Angeles
From the Department of Pediatrics, Division of Pediatric Endocrinology, University of California, Los Angeles.

Am J Dis Child. 1971;122(5):449-451. doi:10.1001/archpedi.1971.02110050119020

Absence of the uterus, right ovary, and right fallopian tube were demonstrated by pelvic pneumography and confirmed on laparoscopic examination of a patient with primary amenorrhea and the Turner phenotype. A small rudimentary ovary and fallopian tube were present on the left. Chromosomal constitution was 46,XX. This is a rare example of the association of absence of the uterus with the Turner phenotype in a female with apparently normal chromosomal constitution. Other cases with similar findings may help resolve the question as to whether the association was a chance occurrence or due to a genetic anomaly responsible for both the Turner phenotype and regression of the Müllerian structures.