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Neonatal Klinefelter's Syndrome
Jules B. Edlow, MD;
Lawrence R. Shapiro, MD;
Lillian Y. F. Hsu, MD;
Kurt Hirschhorn, MD
Am J Dis Child. 1969;118(5):788-791.
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THE STRUCTURAL abnormalities of the testes of the neonate with Klinefelter's syndrome (47, XXY; testicular dysgenesis) have not been studied except in one 1,700 gm premature chromatin positive male infant.1,2 Previous reports refer to the gonadal changes in prepubertal children and older infants with this anomaly.3-12 Ferguson-Smith8,12 found a marked reduction in spermatogonia in a study of testicular material from eight patients between the ages of 7 and 12 years. Similar findings have been noted in testicular material obtained from an infant, aged 3 months.3,4 However, Grumbach1,2 found normal testicular histology in his 1,700 gm premature chromatin positive male infant. The pathologic testicular changes found in the infant presented here support the proposed pathogenesis of this disorder, which was based primarily on studies of testes from older infants and children.
Report of a Case
This neonatal Negro male infant was delivered by cesarean section following
. . . [Full Text PDF of this Article]
Author Affiliations
New York
From the departments of pathology (Division of Pediatric Pathology) (Dr. Edlow) and pediatrics, Division of Medical Genetics (Drs. Shapiro, Hsu, and Hirschhorn), Mount Sinai School of Medicine of the City University of New York.
Footnotes
Received for publication Dec 12, 1968.
Reprint requests to the Division of Medical Genetics, Department of Pediatrics, Mount Sinai School of Medicine, 100th Street and Fifth Avenue, New York 10029 (Dr. Hirschhorn).
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