NUCLEAR SEX IN FAMILIAL GONADAL DYSGENESIS

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Abstract
The unexpected finding of chromatin-negative or »male« cell nuclei in the majority of cases of Turner's syndrome and of chromatin-positive or »female« nuclei in most cases of Klinefelter's syndrome has again focussed attention on the factors responsible for the normal embryological development of the gonads, though it has not clarified them, or the mechanism of the dysgenesis of the gonads in the two syndromes. Perhaps the most puzzling fact is that both chromatin patterns are found in patients with almost identical clinical pictures. This has been confirmed in most of the recent studies of the nuclear sex in both Turner's syndrome (Armstrong, 1955, Barr, 1955, Grumbach et al., 1955, Nelson, 1956, Polani et al., 1956, Riis et al., 1956 b) and Klinefelter's syndrome (Bunge & Bradbury, 1956, Grumbach et al., 1957, Nelson, 1956, Plunkett & Barr, 1956, Riis et al., 1956 a, b, Sohval et al., 1956). In one of