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August 1957

Chromosomal Sex Test: Applications in Pediatrics

Author Affiliations

Fort Steilacoom, Wash.; Seattle
The Children's Orthopedic Hospital and Department of Pediatrics, University of Washington School of Medicine. Mental Health Research Institute (Dr. Thuline).

AMA Am J Dis Child. 1957;94(2):130-136. doi:10.1001/archpedi.1957.04030030024005

The description by Barr and Bertram1 of a sex-related morphologic difference in the nuclei of neuronal cells of the cat central nervous system has led to the development of a new diagnostic tool in the study of certain pediatric endocrine disorders. A nuclear morphologic difference between the sexes has been reported for the cat, dog, mink, marten, ferret, skunk, raccoon, goat, deer, monkey,2,3 and man.2-6 The test as originally devised for application to human subjects utilized a skin biopsy specimen.5,7,8 It has been modified to use cells from such actively growing areas as the oral mucosa,6, 9,10 vaginal mucosa,11 and amniotic membranes.12,13 The chromosomal sex test has been applied to patients with gonadal dysgenesis,6,8,9,14,15 female pseudohermaphroditism,3,5,7,6,15 male pseudohermaphroditism,14,18 true hermaphroditism,15,18 and Klinefelter's syndrome.19-21

The present report illustrates the usefulness and limitations of this technique in clinical pediatrics.