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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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | Russian |
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Open Systems Publication
2021-06-01
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| Series: | Лечащий Врач |
| Subjects: | |
| Online Access: | https://journal.lvrach.ru/jour/article/view/92 |
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| _version_ | 1849248508022882304 |
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| author | I. L. Nikitina E. K. Kudryashova A. M. Todieva R. T. Badrutdinov A. A. Kostareva |
| author_facet | I. L. Nikitina E. K. Kudryashova A. M. Todieva R. T. Badrutdinov A. A. Kostareva |
| author_sort | I. L. Nikitina |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-aba1f1ab0a924ccf820f788765a29b3d |
| institution | Kabale University |
| issn | 1560-5175 2687-1181 |
| language | Russian |
| publishDate | 2021-06-01 |
| publisher | Open Systems Publication |
| record_format | Article |
| series | Лечащий Врач |
| spelling | doaj-art-aba1f1ab0a924ccf820f788765a29b3d2025-08-20T03:57:51ZrusOpen Systems PublicationЛечащий Врач1560-51752687-11812021-06-0103172110.26295/OS.2020.83.45.00291On the issue of timely diagnostics of gender formation disordersI. L. Nikitina0E. K. Kudryashova1A. M. Todieva2R. T. Badrutdinov3A. A. Kostareva4ФГБУ НМИЦ им. В. А. Алмазова МЗ РФФГБУ НМИЦ им. В. А. Алмазова МЗ РФФГБУ НМИЦ им. В. А. Алмазова МЗ РФФГБУ НМИЦ им. В. А. Алмазова МЗ РФФГБУ НМИЦ им. В. А. Алмазова МЗ РФImportance 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.https://journal.lvrach.ru/jour/article/view/92gender differentiationgenital developmentkaryotypefertility potential |
| spellingShingle | I. L. Nikitina E. K. Kudryashova A. M. Todieva R. T. Badrutdinov A. A. Kostareva On the issue of timely diagnostics of gender formation disorders Лечащий Врач gender differentiation genital development karyotype fertility potential |
| title | On the issue of timely diagnostics of gender formation disorders |
| title_full | On the issue of timely diagnostics of gender formation disorders |
| title_fullStr | On the issue of timely diagnostics of gender formation disorders |
| title_full_unstemmed | On the issue of timely diagnostics of gender formation disorders |
| title_short | On the issue of timely diagnostics of gender formation disorders |
| title_sort | on the issue of timely diagnostics of gender formation disorders |
| topic | gender differentiation genital development karyotype fertility potential |
| url | https://journal.lvrach.ru/jour/article/view/92 |
| work_keys_str_mv | AT ilnikitina ontheissueoftimelydiagnosticsofgenderformationdisorders AT ekkudryashova ontheissueoftimelydiagnosticsofgenderformationdisorders AT amtodieva ontheissueoftimelydiagnosticsofgenderformationdisorders AT rtbadrutdinov ontheissueoftimelydiagnosticsofgenderformationdisorders AT aakostareva ontheissueoftimelydiagnosticsofgenderformationdisorders |