A CLINICAL CASE OF SHERESHEVSKY-TURNER SYNDROME

Авторы

  • Alimova N.U
  • Akhmedova K.R
  • Yusupova N.T
  • Sadikova A.S
  • Isamuhamedov M.T
  • Yuldasheva F.Z
  • Suleymanova F.N

Аннотация

Тёрнер синдроми билан касалланган беморларнинг умумий сонининг 5% Y хромосомаси (45,Х/46,ХY) ёки Y хромосомасининг бир қисмини (SRY ёки DYC14 гени) X хромосомасига ёки аутосомага ўтказишда мозаикага ега еканлигини таъкидлаш муҳимдир. Ушбу мақолада Шерешевский Тёрнер синдромининг ушбу ситогенетик вариантининг клиник ҳолати тасвирланган.

Библиографические ссылки

Zelinskaya N.B., Shevchenko I.Yu., GlobaYe.V., Pogadaeva N.L. Features of sexual development of girls with Shereshevsky–Turner syndrome with different karyotypes. Sovremennayapediatriya [Modern Pediatrics]. 2015;3 (67): 54. (in Russian)

Volevodz N.N. Federal Clinical Recommendations ≪Shereshevsky–Turner Syndrome (STS): clinic, diagnosis, treatment≫. Problemyendokrinologii [Problems of Endocrinology].2014; 60 (4): 65–76. (in Russian)

Golubeva S.V., Maltseva O.V., Polyakova T.V. Clinical and cytogenetic variants of Shereshevsky–Turner syndrome. Zdorov’edlyavsekh [Health for All]. 2009; (1): 34–6. (in Russian)

LatyshevO.Yu., Sannikova E.S., Samsonova L.N., Kiseleva E.V., et al. Violation of the formation of the floor 45,X/46,XY: clinical and laboratory characteristics of patients. Byulleten’ sibirskoymeditsiny [Bulletinof Siberian Medicine]. 2017; 16 (3): 87–96. (in Russian)

KuryanovaYu.N., Uvarova E.V. Molecular genetic basis of Turner syndrome. The clinical significance of tissue mosaicism in the choice of tactics for examining and treating patients.Reproduktivnoezdorov’edeteyipodrostkov [Reproductive Health of Children and Adolescents]. 2013;(1): 67–84. (in Russian)

KuryanovaYu.N., Uvarova E.V., Buralkina N.A.The practical significance of the use of modern diagnostic measures in patients with Turner syndrome.Reproduktivnoezdorov’edeteyipodrostkov [Reproductive Health of Children

and Adolescents]. 2014; (2): 40–7. (in Russian)

Coyle D., Kutasy B., Han Suyin K., et al. Gonadoblastoma in patients with 45,X/46,XY mosaicism: a 16-year experience. J Pediatr Urol. 2016; 12 (5): 283.

Huang Y.C., Lee C.T., Wu M.Z., et al. The spectrum of 45,X/46,XY mosaicism in Taiwanese children: the experience of a single center. J Formos Med Assoc. 2019; 118 (1–3): 450–6.

Rojek A., Obara-Moszynska M., Kolesinska Z., et al.Molecular detection and incidence of Y chromosomal material in patients with Turner syndrome. Sex Dev. 2017; 11 (5–6): 254–61.

Tam Y.H., Wong Y.S., Pang K.K., et al. Tumor risk of children with 45,X/46,XY gonadal dysgenesis in relation to their clinical presentations: Further insights into the gonadal management. J Pediatr Surg. 2016; 51 (9).

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Опубликован

2022-12-23