Genital endometriosis as a mask for tuberous sclerosis complex
- Authors: Yarmolinskaya M.I.1, Kokhreidze N.A.2, Komlichenko E.V.2, Leontyeva S.A.3, Koloshkina A.V.1
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Affiliations:
- D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology
- Almazov National Medical Research Center, Ministry of Health of Russia
- St. Petersburg State Pediatric Medical University, Ministry of Health of Russia
- Issue: No 7 (2024)
- Pages: 177-186
- Section: Clinical Notes
- URL: https://journals.eco-vector.com/0300-9092/article/view/635315
- DOI: https://doi.org/10.18565/aig.2024.120
- ID: 635315
Cite item
Abstract
Background: Tuberous sclerosis complex (TSC) is a rare hereditary disorder characterized by the formation of benign tumors in many systems and organs. This pathology is caused by mutations in the TSC1 and TSC2 genes, which are responsible for encoding hamartin and tuberin proteins that regulate cell growth in various organs and tissues of the body.
Case report: The article presents a description of a clinical case of TSC in a 12-year-old girl. The patient complained of dysmenorrhea since menarche, she also underwent one surgical intervention for uterine cystic mass and extensive pelvic endometriosis. After further thorough examination and diagnostic search involving different specialists from several leading institutions, comparing the clinical picture, results of instrumental and laboratory examinations, as well as the results of genetic testing, which revealed a mutation in the TSC1 gene, the patient was diagnosed with TSC. The clinical observation was characterized by the absence of clear clinical criteria of the disease, such as skin lesions, epileptic seizures, lesions of the central nervous system; however, the symptoms were similar to the clinical manifestations of endometriosis. This caused a delay in making the correct diagnosis and prescribing treatment.
Conclusion: This clinical example may be useful for doctors of different specialties, as the principles of multidisciplinary approach are necessary for timely diagnosis and treatment of such patients.
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About the authors
Maria I. Yarmolinskaya
D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology
Author for correspondence.
Email: m.yarmolinskaya@gmail.com
ORCID iD: 0000-0002-6551-4147
SPIN-code: 3686-3605
Scopus Author ID: 7801562649
ResearcherId: P-2183-2014
Dr. Med. Sci., Professor of the Russian Academy of Sciences, Head of the Department of Gynecology and Endocrinology, Head of the Center of Diagnostics and Treatment of Endometriosis, D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology
Russian Federation, St. PetersburgNadezhda A. Kokhreidze
Almazov National Medical Research Center, Ministry of Health of Russia
Email: kokhreidze@mail.ru
ORCID iD: 0000-0002-0265-9728
SPIN-code: 9382-2225
Scopus Author ID: 648349
Dr. Med. Sci., Associate Professor, Head of the Department of Gynecology of Children and Adolescents, Children’s Medical and Rehabilitation Complex
Russian Federation, St. PetersburgEduard V. Komlichenko
Almazov National Medical Research Center, Ministry of Health of Russia
Email: e_komlichenko@mail.ru
ORCID iD: 0000-0002-3790-0446
SPIN-code: 9815-7555
Scopus Author ID: 715180
Dr. Med. Sci., obstetrician-gynecologist of the highest category, Deputy Chief Physician for Oncology, Professor at the Department of Organization, Management and Economics of Health
Russian Federation, St. PetersburgSvetlana A. Leontyeva
St. Petersburg State Pediatric Medical University, Ministry of Health of Russia
Email: sonik1977@yandex.ru
ORCID iD: 0000-0002-5378-1344
Teaching Assistant at the Department of Neonatology with a course of neurology and obstetrics and gynecology FP and DPO, St. Petersburg State Medical University, Ministry of Health of Russia; Head of the Department of Pediatric Gynecology, Children’s Clinical Hospital No. 5
Russian Federation, St. PetersburgAnastasiya V. Koloshkina
D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology
Email: nastyasalukhova@gmail.com
ORCID iD: 0000-0002-5200-7672
Resident
Russian Federation, St. PetersburgReferences
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