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John S. Fuqua, John McLaughlin, Elizabeth J. Perlman, Gary D. Berkovitz., Analysis of the SRY Gene in Gonadal Tissue of Subjects with 46,XY Gonadal Dysgenesis*, The Journal of Clinical Endocrinology & Metabolism, Volume 82, Issue 2, 1 February 1997, Pages 701–702, https://doi.org/10.1210/jcem.82.2.3771-1
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The sex determining region Y gene (SRY) triggers testis determination (1). In the recent past, it has been shown that mutations of the SRY gene could result in the syndrome of pure gonadal dysgenesis. However, it has also been observed that, in most cases of gonadal dysgenesis, whether complete or partial, no SRY mutation could be detected (reviewed in 2).
Recently, Braun et al. (3) reported a 46,XY true hermaphrodite who had a mutation of SRY in gonadal DNA but not in leukocyte DNA, suggesting that the mutation was post-zygotic. Because of this finding, we have attempted to determine whether post-zygotic mutation of SRY might explain the numerous cases of gonadal dysgenesis in whom no SRY mutation was dected in leukocyte DNA. For this purpose we evaluated 16 subjects with 46,XY gonadal dysgenesis who had a normal SRY sequence in leukocyte DNA, 5 of them having 46,XY complete gonadal dysgenesis, the others having a partial form.
