46,XX Testicular Disorders of Sex Development: Case Report
Elena V. Sibirskaya,
Irina V. Karachentsova,
Aina S. Annakulieva,
Tamara N. Ivanovskaya,
Yuliya A. Kirillova,
Irina A. Melenchuk,
Alena A. Kovaleva https://doi.org/10.15690/pf.v22i3.2917
Abstract
Background. The article presents a rare case report of sex development disorder (DSDs, 46-XX-male), demonstrating the need for timely diagnosis, conservative and surgical treatment, and emphasizes the importance of a multidisciplinary approach. Due to the low frequency of occurrence of this pathology at an early age, the description of a new case is of undoubted interest and scientific and practical significance.
Case Repot. A case report of a 12-year-old female patient diagnosed with 46,XX testicular disorder of sex development is presented. The stages of the diagnostic search, treatment methods depending on age, course of the disease, and response to therapy are described.
Conclusion. Patients diagnosed with disorders of sex development are recommended to be constantly monitored by doctors in order to prescribe and correct conservative therapy, resolve issues about surgical treatment methods, improve the quality of life and implement reproductive function.
Keywords
testicular sex determination disorder,
gonadal dysgenesis,
de la Chapelle syndrome,
XX male syndrome
Supporting agencies: Not specified
About the Authors
Elena V. Sibirskaya
N.I. Pirogov Russian National Research Medical University; Russian Children’s Clinical Hospital; The Russian University of Medicine
Russian Federation
Disclosure of interest:
Russian Federation
MD, PhD, Professor.
Moscow
Disclosure of interest:
Not declared
Irina V. Karachentsova
N.I. Pirogov Russian National Research Medical University; Russian Children’s Clinical Hospital
Russian Federation
Disclosure of interest:
Russian Federation
MD, PhD.
1, Ostrovityanova Str., building 7, Moscow, 117997
Disclosure of interest:
Not declared
Aina S. Annakulieva
Russian Children’s Clinical Hospital
Russian Federation
Disclosure of interest:
Russian Federation
MD.
Moscow
Disclosure of interest:
Not declared
Tamara N. Ivanovskaya
N.I. Pirogov Russian National Research Medical University; Russian Children’s Clinical Hospital
Russian Federation
Disclosure of interest:
Russian Federation
MD, PhD.
Moscow
Disclosure of interest:
Not declared
Yuliya A. Kirillova
Russian Children’s Clinical Hospital
Russian Federation
Disclosure of interest:
Russian Federation
MD.
Moscow
Disclosure of interest:
Not declared
Irina A. Melenchuk
Russian Children’s Clinical Hospital
Russian Federation
Disclosure of interest:
Russian Federation
MD.
Moscow
Disclosure of interest:
Not declared
Alena A. Kovaleva
N.I. 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:
Sibirskaya E.V., Karachentsova I.V., Annakulieva A.S., Ivanovskaya T.N., Kirillova Yu.A., Melenchuk I.A., Kovaleva A.A. 46,XX Testicular Disorders of Sex Development: Case Report. Pediatric pharmacology. 2025;22(3):308-314. (In Russ.) https://doi.org/10.15690/pf.v22i3.2917
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