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Article
November 1969

Neonatal Klinefelter's Syndrome

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.

Am J Dis Child. 1969;118(5):788-791. doi:10.1001/archpedi.1969.02100040790021
Abstract

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

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