On the issue of timely diagnostics of gender formation disorders

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 disord...

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Bibliographic Details
Main Authors: I. L. Nikitina, E. K. Kudryashova, A. M. Todieva, R. T. Badrutdinov, A. A. Kostareva
Format: Article
Language:Russian
Published: Open Systems Publication 2021-06-01
Series:Лечащий Врач
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Online Access:https://journal.lvrach.ru/jour/article/view/92
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Summary: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.
ISSN:1560-5175
2687-1181