Genital endometriosis as a mask for tuberous sclerosis complex

DOI

https://dx.doi.org/10.18565/aig.2024.120

Yarmolinskaya M.I., Kokhreidze N.A., Komlichenko E.V., Leontieva S.A., Koloshkina А.V.
1) D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, St. Petersburg, Russia; 2) Almazov National Medical Research Center, Ministry of Health of Russia, St. Petersburg, Russia; 3) St. Petersburg State Pediatric Medical University, Ministry of Health of Russia, St. Petersburg, Russia

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.

Authors’ contributions: Yarmolinskaya M.I., Kokhreidze N.A. – concept and design of the study, data analysis and conclusions; Yarmolinskaya M.I., Kokhreidze N.A., Komlichenko E.V., Leontyeva S.A., Koloshkina A.V. – data collection; Yarmolinskaya M.I., Kokhreidze N.A., Koloshkina A.V. – writing the manuscript.
Conflicts of interest: The authors declare no possible conflicts of interest.
Funding: The study was conducted without sponsorship.
Patient Consent for Publication: The mother of the minor girl obtained informed consent for publication of the patient's data and associated images.
For citation: Yarmolinskaya M.I., Kokhreidze N.A., Komlichenko E.V., Leontieva S.A., Koloshkina А.V.
Genital endometriosis as a mask for tuberous sclerosis complex.
Akusherstvo i Ginekologiya/Obstetrics and Gynecology. 2024; (7): 177-186 (in Russian)
https://dx.doi.org/10.18565/aig.2024.120

tuberous sclerosis

TSC1 and TSC2 genes

endometriosis

endometriosis “masks”

clinical case

treatment

Full text (in Russian)

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Received 15.05.2024

Accepted 10.07.2024

Maria I. Yarmolinskaya, 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, 199034, Russia, St. Petersburg, Mendeleevskaya line, 3, m.yarmolinskaya@gmail.com, SPIN: 3686-3605, Researcher ID: P-2183-2014, Scopus Author ID: 7801562649, https://orcid.org/0000-0002-6551-4147
Nadezhda A. Kokhreidze, Dr. Med. Sci., Associate Professor, Head of the Department of Gynecology of Children and Adolescents, Children’s Medical and Rehabilitation Complex, Almazov National Medical Research Center, Ministry of Health of Russia, 197341, Russia, Saint-Petersburg, Kolomyazhsky ave., 21-2, kokhreidze@mail.ru,
SPIN: 9382-2225, Scopus Author ID: 648349, https://orcid.org/0000-0002-0265-9728
Eduard V. Komlichenko, 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, Almazov National Medical Research Center, Ministry of Health of Russia, 197341, Russia, St. Petersburg, Akkuratova str., 2,
e_komlichenko@mail.ru, SPIN: 9815-7555, Scopus Author ID: 715180, https://orcid.org/0000-0002-3790-0446
Svetlana A. Leontyeva, 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, 194100, Russia, St. Petersburg, Litovskaya str., 2; Head of the Department of Pediatric Gynecology, Children’s Clinical Hospital No. 5, sonik1977@yandex.ru, https://orcid.org/0000-0002-5378-1344
Anastasiya V. Koloshkina, Resident, D.O. Ott Research institute of Obstetrics, Gynecology and Reproductology, 199034, Russia, St. Petersburg, Mendeleevskaya line, 3, nastyasalukhova@gmail.com, https://orcid.org/0000-0002-5200-7672

Genital endometriosis as a mask for tuberous sclerosis complex

Yarmolinskaya M.I., Kokhreidze N.A., Komlichenko E.V., Leontieva S.A., Koloshkina А.V.

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