Differential diagnosis of hyperandrogenism
Ivashchenko K.V., Molashenko N.V., Platonova N.M., Roslyakova A.A., Ioutsi V.A., Ovcharov M.V., Antsupova M.A., Lapshina A.M., Buryakina S.A., Beltsevich D.G., Kuznetsov N.S., Andreeva E.N., Troshina E.A., Melnichenko G.A.
Background: Androgen-producing tumors represent an extremely rare group of hormonally active adrenal neoplasms. Their clinical course is characterized by hirsutism, menstrual irregularities, acne, virilization and other manifestations of hyperandrogenism. This condition should be differentially diagnosed with diseases such as polycystic ovary syndrome (PCOS), congenital adrenal hyperplasia (CAH), Itsenko–Cushing syndrome and adrogen-producing ovarian tumors, which are also characterized by androgen excess.
Case report: The presented clinical case is an example of long-term observation of a reproductive-aged woman with a clinical picture of hyperandrogenism and reproductive dysfunction; she received ineffective treatment for CAH and PCOS at different periods of her life. Multisteroid hormone analysis of blood serum by high-performance liquid chromatography with tandem mass spectrometry (HPLC-MS/MS), genetic testing combined with high-precision imaging techniques made it possible to establish the diagnosis of androgen-producing adrenal mass as the underlying cause of the disease more than 20 years after the appearance of the first symptoms. After performing adrenalectomy for the tumor, the level of androgens and their metabolites became normal, and the menstrual cycle restored.
Conclusion: Patients with manifestations of hyperandrogenism should have laboratory evaluation of possible hormonal disorders, imaging of the adrenal glands and ovaries (pelvic MRI, MSCT of the retroperitoneal space), and genetic testing for CYP21A2 gene mutations, when necessary, to exclude the excessive androgen production or adrenocortical tumorigenesis. In order to identify the source of hyperandrogenism, multisteroid blood analysis may be performed as an additional method using HPLC-MS/MS.
Authors’ contributions: Ivashchenko K.V. – collecting the data, analysis and interpretation, writing the text; Molashenko N.V., Platonova N.M. – developing the concept and design of the study, analysis of the obtained data, correction of the text; Roslyakova A.A. – analysis of the obtained data, correction of the text; Ioutsi V.A. – analysis of blood steroid profile using
HPLC-MS/MS method, processing of the obtained data, correction of the text; Ovcharov M.V., Antsupova M.A. – analysis of blood steroid profile using HPLC-MS/MS method, processing of the obtained data; Lapshina A.M. – conducting pathomorphological study, analysis of the obtained data; Buryakina S.A. – description of multislice spiral computed tomography, analysis of the obtained data, correction of the text; Beltsevich D.G. – verification of critical intellectual content, correction of the text; Kuznetsov N.S. – performing surgery, analysis of the obtained data, correction of the text; Andreeva E.N., Troshina E.A. – analysis of the obtained data, correction of the text; Melnichenko G.A. – verification of critical intellectual content, final approval of the manuscript for publication. All authors approved the final version of the paper prior to its publication. They also agreed to take responsibility for all aspects of the paper, ensuring that any issues related to its accuracy or integrity were properly reviewed and resolved.
Conflicts of interest: The authors declare that they have no apparent and potential conflicts of interest related to the publication of this paper.
Funding: The work was performed within the framework of the state assignment of the Ministry of Health of Russia “Development of new technologies for the diagnosis and monitoring of tumors of the adrenal cortex using metabolomic and proteomic technologies”, registration number 123021300098-7.
Patient Consent for Publication: The patient provided informed consent for the publication of her personal medical information under the condition that it would be presented in an anonymized form.
For citation: Ivashchenko K.V., Molashenko N.V., Platonova N.M., Roslyakova A.A., Ioutsi V.A., Ovcharov M.V., Antsupova M.A., Lapshina A.M., Buryakina S.A., Beltsevich D.G., Kuznetsov N.S., Andreeva E.N.,
Troshina E.A., Melnichenko G.A. Differential diagnosis of hyperandrogenism.
Akusherstvo i Ginekologiya/Obstetrics and Gynecology. 2024; (10): 200-208 (in Russian)
https://dx.doi.org/10.18565/aig.2024.152
Keywords
infertility
polycystic ovary syndrome
congenital adrenal hyperplasia
adrenal tumor
hyperandrogenism
clinical case
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Received 02.07.2024
Accepted 27.07.2024
About the Authors
Kseniya V. Ivashchenko, MD, PhD student, Endocrinology Research Center, 11 Dm. Ulyanova str., 117036, Moscow, Russia, +7(977)260-70-29, kseniya223@mail.ru,https://orcid.org/0000-0002-0786-7809
Natalya V. Molashenko, PhD, endocrinologist, Endocrinology Research Center, 11 Dm. Ulyanova str., 117036, Moscow, Russia, molashenko@mail.ru,
eLibrary SPIN: 5679-2808, https://orcid.org/0000-0001-6265-1210
Nadezhda M. Platonova, Dr. Med. Sci., Professor, Head of the Department of Therapeutic Endocrinology, Endocrinology Research Center, 11 Dm. Ulyanova str.,
117036, Moscow, Russia, doc-platonova@inbox.ru, eLibrary SPIN: 4053-3033, https://orcid.org/0000-0001-6388-1544
Anna A. Roslyakova, endocrinologist, Endocrinology Research Center, 11 Dm. Ulyanova str., 117036, Moscow, Russia, aroslyakova12@gmail.com, SPIN-код: 5984-4175, https://orcid.org/0000-0003-1857-5083
Vitaliy A. Ioutsi, PhD (in Chemistry), Head of the Laboratory of Metabolomic and Proteomic Studies, Endocrinology Research Center, 11 Dm. Ulyanova str.,
117036, Moscow, Russia, vitalik_org@mail.ru, eLibrary SPIN: 9734-0997, https://orcid.org/0000-0001-9002-1662
Maksim V. Ovcharov, PhD (in Chemistry, Senior Researcher at the Laboratory of Metabolomic and Proteomic Studies, Endocrinology Research Center,
11 Dm. Ulyanova str., 117036, Moscow, Russia, ovcharov.maksim@endocrincentr.ru, eLibrary SPIN: 6999-1893, https://orcid.org/0000-0001-7879-2034
Maria A. Antsupova, Researcher at the Laboratory of Metabolomic and Proteomic Studies, Endocrinology Research Center, 11 Dm. Ulyanova str., 117036, Moscow, Russia, masha_ancupova@mail.ru
Anastasia M. Lapshina, PhD, doctor-pathologist, Endocrinology Research Center, 11 Dm. Ulyanova str., 117036, Moscow, Russia, anastasya.lapshina@endocrincentr.ru, eLibrary SPIN: 7666-5950, https://orcid.org/0000-0003-4353-6705
Svetlana A. Buryakina, PhD, radiologist, Endocrinology Research Center, 11 Dm. Ulyanova str., 117036, Moscow, Russia, sburyakina@yandex.ru, eLibrary SPIN: 5675-0651, https://orcid.org/0000-0001-9065-7791
Dmitry G. Beltsevich, Dr. Med. Sci., Professor, Endocrinology Research Center, 11 Dm. Ulyanova str., 117036, Moscow, Russia, belts67@gmail.com,
eLibrary SPIN: 4475-6327, https://orcid.org/0000-0001-7098-4584
Nikolay S. Kuznetsov, Dr. Med. Sci., Professor, Endocrinology Research Center, 11 Dm. Ulyanova str., 117036, Moscow, Russia, kuznetsov-enc@yandex.ru,
eLibrary SPIN: 8412-1098, https://orcid.org/ 0000-0002-9419-7013
Elena N. Andreeva, Dr. Med. Sci., Professor, Director of the Institute of Reproductive Medicine, Endocrinology Research Center, 11 Dm. Ulyanova str., 117036, Moscow, Russia, endogin@mail.ru, eLibrary SPIN: 1239-2937, https://orcid.org/0000-0001-8425-0020
Ekaterina A. Troshina, Dr. Med. Sci., Professor, Corresponding Member of the RAS, Endocrinology Research Center, 11 Dm. Ulyanova str., 117036, Moscow, Russia, troshina@inbox.ru, eLibrary SPIN: 8821-8990, https://orcid.org/0000-0002-8520-8702
Galina A. Melnichenko, Dr. Med. Sci., Professor, Corresponding Member of the RAS, Deputy Director for Scientific Work, Endocrinology Research Center,
11 Dm. Ulyanova str., 117036, Moscow, Russia, teofrast2000@mail.ru, eLibrary SPIN: 8615-0038, https://orcid.org/0000-0002-5634-7877
Corresponding author: Kseniya V. Ivashchenko, kseniya223@mail.ru
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