SEX CHROMATIN PATTERN IN SEMINIFEROUS TUBULE DYSGENESIS AND OTHER TESTICULAR DISORDERS: RELATIONSHIP TO TRUE HERMAPHRODISM AND TO KLINEFELTER'S SYNDROME, WITH A REVIEW OF GONADAL ONTOGENESIS*,
MELVIN M. GRUMBACH, M.D.,
WILLIAM A. BLANC, M.D. and
EARL T. ENGLE, PH.D.
The Babies Hospital and the Departments of Pediatrics, Pathology, and Obstetrics and Gynccology, College of Physicians and Silrgeons, Columbia University New York, N. Y.
THE discovery by Ban and his associates of a sex differencein the interphase nuclei of somatic cells in certain mammals(2–6), including primates, has provided a long-neededpractical method for assessing the sex chromosome constitution.Since this technique was first applied in man in 1953 (7), modifications(8–11) and several new developments have been reported(12–17).
In the investigation of anomalies of sex development, clinicalapplication of Barr's method has produced important results(7, 18–23). Apart from its ancillary rôle in diagnosis,cytologic sexing, or the determination of sex by chromatin pattern,has contributed significantly to our understanding of the disordereddevelopment in these afflictions (23, 24).
Recently, chromosomal sex has been studied in testicular disorders.Nelson (25), Plunkett and Ban (26, 27), and Bradbury, Bungeand Boccabella (28) were the first to describe a female chromatinpattern in apparent males with Klinefelter's syndrome. Subsequently,this finding has been reported by the authors and Barr (1),and by others (29–31).
* Presented at the Thirty-eighth Annual Meeting of The EndocrineSociety, Chicago, Illinois, June 7–9, 1956 (1).
This work was supported by a research grant from the Divisionof Research Grants and Fellowships, National Institutes of Health,U. S. Public Health Service.
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