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.
THULINE HC, SHEPARD TH, CREIGHTON SA. Chromosomal Sex Test: Applications in Pediatrics. AMA Am J Dis Child. 1957;94(2):130–136. doi:10.1001/archpedi.1957.04030030024005
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