On the issue of timely diagnostics of gender formation disorders
https://doi.org/10.26295/OS.2020.83.45.002
Abstract
Importance of early diagnostics of gender differentiation disorders in children is discussed, different manifestations of this pathology are described so that they could be included in the spectrum of diagnostic search. We presented a clinical observation of two patients with gender formation disorders with karyotype 46ХУ, with identified mutations in the same gene of steroidogenic factor NR5A1, whom, on their birth, official female gender was given.
About the Authors
I. L. Nikitina
ФГБУ НМИЦ им. В. А. Алмазова МЗ РФ
Россия
Россия
E. K. Kudryashova
ФГБУ НМИЦ им. В. А. Алмазова МЗ РФ
Россия
Россия
A. M. Todieva
ФГБУ НМИЦ им. В. А. Алмазова МЗ РФ
Россия
Россия
R. T. Badrutdinov
ФГБУ НМИЦ им. В. А. Алмазова МЗ РФ
Россия
Россия
A. A. Kostareva
ФГБУ НМИЦ им. В. А. Алмазова МЗ РФ
Россия
Россия
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For citations:
Nikitina I.L., Kudryashova E.K., Todieva A.M., Badrutdinov R.T., Kostareva A.A. On the issue of timely diagnostics of gender formation disorders. Lechaschi Vrach. 2020;(3):17-21. (In Russ.) https://doi.org/10.26295/OS.2020.83.45.002
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