Clinical and cytogenetic correlations in mixed gonadal dysgenesis
https://doi.org/10.14341/probl12086
Abstract
Clinical-karyotypical correlations have been analyzed in 36 patients with mixed gonadal dysgenesis. The minimal diagnostic signs have been determined: rudimentary uterus, uterine tube, split scrotum, perineal hypospadias, left streak gonad, testicular hypoplasia and scrotal localization of the testicle, and the most incident concomitant abnormalities. A comparative analysis of the distribution of signs in groups with different karyotype disorders has been carried out. The authors discuss the clinical variability of this abnormality on the basis of genetic approaches to the study of mixed gonadal dysgenesis.
About the Authors
E. P. Kasatkina
Russian Medical Academy of Postgraduate Education
Russian Federation
Russian Federation
S. I. Kozlova
Russian Medical Academy of Postgraduate Education
Russian Federation
Russian Federation
A. N. Prytkov
Russian Medical Academy of Postgraduate Education
Russian Federation
Russian Federation
L. A. Tarskaya
Russian Medical Academy of Postgraduate Education
Russian Federation
Russian Federation
R. S. Patyutko
Russian Medical Academy of Postgraduate Education
Russian Federation
Russian Federation
G. P. Lelikova
Russian Medical Academy of Postgraduate Education
Russian Federation
Russian Federation
References
1. Касаткина Э. П. Дифференциальная диагностика и лечение гермафродитизма. — М., 1992.
2. Affara N. A., Lau Y.-F. С., Briggs Н. et al. // Citogenetics. — 1994. - Vol. 67. - P. 360-402.
3. Foote S., Vollrath D., Hilton A., Page D. C. // Science. — 1992. - Vol. 258. - P. 60-66.
4. Hsu L. Y. F. I/ Amer. J. med. Genet. — 1994. — Vol. 53. — P. 108-140.
5. Just W., Geerkens G., Held K. R., Vogel W. // Hum. Genet. — 1992. - Vol. 89. - P. 240-242.
6. McElreavey K., Wiliam E., Abbas N. et al. // Proc. Natl. Acad. Sci. USA. - 1993. - Vol. 90. - P. 3368-3372.
7. Ogata T., Matsuo N. // Hum. Genet. — 1993. — Vol. 91. — P. 551-562.
8. Robboy S., Miller T., Donahoe P. et al. // Hum. Pathol. — 1982. - Vol. 13. - P. 700-716.
9. Rohatgi M., Gurta D., Menon P., Verma I. // Indian J. Pediatr. - 1992. - Vol. 59. - P. 487-500.
10. Therman E., Susman B. // Hum. Genet. — 1990. — Vol. 85. - P. 175-183.
11. Vollrath D., Foote S., Hilton A., Brown L. // Science. — 1992. - Vol. 258. - P. 52-59.
12. Wyss D., Delozier C., Danniell J., Engel E. // Clin. Genet. — 1982. - Vol. 21. - P. 145-159.
Review
For citations:
Kasatkina E.P., Kozlova S.I., Prytkov A.N., Tarskaya L.A., Patyutko R.S., Lelikova G.P. Clinical and cytogenetic correlations in mixed gonadal dysgenesis. Problems of Endocrinology. 1996;42(5):26-30. (In Russ.) https://doi.org/10.14341/probl12086
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