Swyer Syndrome: Clinical Case of Gonadal Dysgenesis in a 15-year-old Girl
Irina V. Karachentsova,
Elena V. Sibirskaya,
Tatyana G. Dyadik,
Mariia Yu. Chernysheva,
Kristina A. Osmanova,
Varvara M. Golubkova,
Anna V. Arutunyan,
Angelina A. Sysoeva https://doi.org/10.15690/pf.v21i4.2786
Abstract
Swyer syndrome is a rare genetic disorder in which gonadal dysgenesis and karyotype 46, XY are observed. In the postnatal and prepubescent period, this disease has no clinical manifestations and is asymptomatic, which makes diagnosis difficult. The first signs of the syndrome appear in puberty in the form of underdevelopment of secondary sexual characteristics. This review presents the criteria based on which such a diagnosis as Swyer syndrome can be made. The main diagnostic methods are highlighted, the possibilities of both surgical treatment of patients and drug treatment due to hormone replacement therapy are considered. Verification of the syndrome contributes to a more thorough examination, which will allow you to determine management tactics and avoid complications from other organs and systems.
Supporting agencies: Not specified.
About the Authors
Irina V. Karachentsova
Pirogov Russian National Research Medical University
Russian Federation
Disclosure of interest:
Russian Federation
MD, PhD
1, Ostrovityanova Str., building 7, Moscow, 117997
Disclosure of interest:
Not declared.
Elena V. Sibirskaya
Pirogov Russian National Research Medical University; Russian Children’s Clinical Hospital; Russian University of Medicine
Russian Federation
Disclosure of interest:
Russian Federation
MD, PhD, Professor
Moscow
Disclosure of interest:
Not declared.
Tatyana G. Dyadik
Pirogov Russian National Research Medical University
Russian Federation
Disclosure of interest:
Russian Federation
MD
Moscow
Disclosure of interest:
Not declared.
Mariia Yu. Chernysheva
Pirogov Russian National Research Medical University
Russian Federation
Disclosure of interest:
Russian Federation
resident
Moscow
Disclosure of interest:
Not declared.
Kristina A. Osmanova
Pirogov Russian National Research Medical University
Russian Federation
Disclosure of interest:
Russian Federation
resident
Moscow
Disclosure of interest:
Not declared.
Varvara M. Golubkova
Pirogov Russian National Research Medical University
Russian Federation
Disclosure of interest:
Russian Federation
MD
Moscow
Disclosure of interest:
Not declared.
Anna V. Arutunyan
Pirogov Russian National Research Medical University
Russian Federation
Disclosure of interest:
Russian Federation
student
Moscow
Disclosure of interest:
Not declared.
Angelina A. Sysoeva
Pirogov Russian National Research Medical University
Russian Federation
Disclosure of interest:
Russian Federation
student
Moscow
Disclosure of interest:
Not declared.
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Review
For citations:
Karachentsova I.V., Sibirskaya E.V., Dyadik T.G., Chernysheva M.Yu., Osmanova K.A., Golubkova V.M., Arutunyan A.V., Sysoeva A.A. Swyer Syndrome: Clinical Case of Gonadal Dysgenesis in a 15-year-old Girl. Pediatric pharmacology. 2024;21(4):344-349. (In Russ.) https://doi.org/10.15690/pf.v21i4.2786
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