Осложнения периода гестации у пациенток с синдромом множественной эндокринной неоплазии 1-го типа
Осложнения периода гестации у пациенток с синдромом множественной эндокринной неоплазии 1-го типа
Петров Ю.А., Купина А.Д. Осложнения периода гестации у пациенток с синдромом множественной эндокринной неоплазии 1-го типа. Consilium Medicum. 2020; 22 (6): 15–18. DOI: 10.26442/20751753.2020.6.200140
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Petrov Yu.A., Kupina A.D. Complications of the gestational period in patients with type 1 multiple endocrine neoplasia syndrome. Consilium Medicum. 2020; 22 (6): 15–18. DOI: 10.26442/20751753.2020.6.200140
Осложнения периода гестации у пациенток с синдромом множественной эндокринной неоплазии 1-го типа
Петров Ю.А., Купина А.Д. Осложнения периода гестации у пациенток с синдромом множественной эндокринной неоплазии 1-го типа. Consilium Medicum. 2020; 22 (6): 15–18. DOI: 10.26442/20751753.2020.6.200140
________________________________________________
Petrov Yu.A., Kupina A.D. Complications of the gestational period in patients with type 1 multiple endocrine neoplasia syndrome. Consilium Medicum. 2020; 22 (6): 15–18. DOI: 10.26442/20751753.2020.6.200140
Синдром множественной эндокринной неоплазии 1-го типа является генетически детерминированным аутосомно-доминантным заболеванием и проявляется развитием злокачественной трансформации и/или гиперплазии двух и более желез внутренней секреции. Нарушение репродуктивного здоровья женщин в основном обусловлено поражением паращитовидных желез, гипофиза, щитовидной железы и надпочечников. Гиперпаратиреоз наблюдается у 90–100% пациенток и приводит к развитию нефрокальциноза, пиелонефрита, острой почечной недостаточности, патологических переломов костей, сердечно-сосудистой недостаточности, повышению артериального давления, преэклампсии, что сопровождается гипоксией плода, задержкой внутриутробного развития, а также возможен летальный исход как для плода, так и для матери. Пролактинсекретирующая аденома гипофиза нарушает функционирование гипоталамо-гипофизарно-яичниковой системы. У пациенток наблюдаются гипогонадотропный гипогонадизм, олигоменорея, аменорея, галакторея, снижение либидо, синдром поликистозных яичников, бесплодие.
Ключевые слова: гиперпролактинемия, гиперпаратиреоз, нарушение менструального цикла, бесплодие.
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Type 1 endocrine neoplasia syndrome is a genetically determined autosomal dominant disease and is manifested by the development of malignant transformation and/or hyperplasia of two or more endocrine glands. Women’s reproductive health problems are mainly caused by damage to the parathyroid glands, pituitary gland, thyroid gland and adrenal glands. Hyperparathyroidism is observed in 90–100% of patients and leads to the development of nephrocalcinosis, pyelonephritis, acute renal failure, pathological bone fractures, cardiovascular failure, increased blood pressure, preeclampsia, which are accompanied by fetal hypoxia, intrauterine growth retardation, and a lethal outcome is possible, such as death for the fetus, and for the mother. Prolactin-secreting pituitary adenoma disrupts the functioning of the hypothalamic-pituitary-ovarian system. Patients have hypogonadotropic hypogonadism, oligomenorrhea, amenorrhea, galactorrhea, decreased libido, polycystic ovary syndrome, infertility.
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article/view?id=29200
[Petrov Iu.A., Kupina A.D., Shatalov A.E. Rol' prolaktinomy v razvitii reproduktivnykh narushenii. Sovremennye problemy nauki i obrazovaniia. 2019; 5. http://science-education.ru/ru/article/view?id=29200 (in Russian)].
________________________________________________
1. Kumar V, Abbas A, Fausto N, Aster J. Robbins and Cotran Pathologic Basis of Disease. Saunders Elsevier Publ 2014; 1311–13.
2. Agarwal SK. Exploring the tumors of multiple endocrine neoplasia type 1 in mouse models for basic and preclinical studies. Int J Endocr Oncol 2014; 1: 153–61. DOI: 10.2217/ije.14.16
3. Thakker RV. Multiple endocrine neoplasia type 1 (MEN1) and type 4 (MEN4). Mol Cell Endocrinol 2014; 386: 2–15. DOI: 10.1016/j.mce.2013.08.002
4. Khatamil F, Tavangar SM. Multiple Endocrine Neoplasia Syndromes from Genetic and Epigenetic Perspectives. Biomark Insights 2018; 13: 1177271918785129. DOI: 10.1177/1177271918785129.
5. Lodewijk LBP, Kist JW, Conemans EB et al. Thyroid incidentalomas in patients with multiple endocrine neoplasia type 1. Eur J Endocrinol 2015; 172: 337–42. DOI: 10.1530/EJE-14-0897.
6. Jeong YJ, Oh HK, Bong JG. Multiple endocrine neoplasia type 1 associated with breast cancer: a case report and review of the literature. Oncol Lett 2014; 8: 230–234. DOI: 10.3892/ol.2014.2144.
7. Demidova T.Yu., Kishkovich Yu.S. Multiple endocrine neoplasia type 1 syndrome. Consilium Medicum. 2018; 20 (4): 59–62. DOI: 10.26442/2075-1753_2018.4.59-62 (in Russian).
8. Khatami F, Tavangar SM. Current diagnostic status of pheochromocytoma and future perspective: a mini review. Iran J Pathol 2017; 12: 313–22.
9. Valdés N, Navarro E, Mesa J et al. RET Cys634Arg mutation confers a more aggressive multiple endocrine neoplasia type 2A phenotype than Cys634Tyr mutation. Eur J Endocrinol 2015; 172: 301–7. DOI: 10.1530/EJE-14-0818
10. Kupina A.D., Petrov Iu.A., Berezovskaia K.E. Osobennosti patogeneza i diagnostiki feokhromotsitomy i paragangliomy vo vremia beremennosti. Sovremennye problemy nauki i obrazovaniia. 2019; (3). www.science-education.ru/ru/article/view?id=28778 (in Russian)
11. Wells SA, Jr, Asa SL, Dralle H et al. Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma: the American Thyroid Association Guidelines Task Force on medullary thyroid carcinoma. Thyroid 2015; 25: 567–610. DOI: 10.1089/thy.2014.0335
12. Endocrinology. National leadership. Pod red. I.I. Dedova. Moscow: GEOTAR-Media, 2016. (in Russian)
13. Norton JA, Krampitz G, Jensen RT. Multiple Endocrine Neoplasia: Genetics & Clinical Management. Surgl Oncol Clin N Am 2015; 24 (4): 795–832. DOI: 10.1016/j.soc.2015.06.008
14. Bartsch DK, Albers M, Knoop R et al. Higher risk of aggressive pancreatic neuroendocrine tumors in MEN1 patients with MEN1 mutations affecting the CHES1 interacting MENIN domain. J Clin Endocrinol Metab 2014; 99: E2387–2391. DOI: 10.1210/jc.2013-4432
15. Dreval A.V. Endocrinology: a guide for doctors. Moscow: GEOTAR-Media, 2016 (in Russian).
16. Chung YJ, Hwang S, Jeong JJ et al. Genetic and epigenetic analysis in Korean patients with multiple endocrine neoplasia type 1. Endocrinol Metab 2014; 29: 270–9. DOI: 10.3803/EnM.2014.29.3.270
17. Di Meo G, Sgaramella LI, Ferraro V et al. Parathyroid carcinoma in multiple endocrine neoplasm type 1 syndrome: case report and systematic literature review. Clin Exp Med 2018; 18: 585–93. DOI: 10.1007/s10238-018-0512-7
18. Goudet P, Le Bras A, Cardot-Bauters C et al. MEN1 disease occurring before 21 years old. A 160-patient cohort study from the GTE (Groupe d’étude des Tumeurs Endocrines). J Clin Endocrinol Metab 2015; 100 (4): 1568–77. DOI: 10.1210/jc.2014-3659
19. Schnatz PF, Curry SL. Primary hyperparathyroidism in pregnancy: evidence-based management. Obstet Gynecol Surv 2002; 57 (6): 365–76.
20. Mokrysheva N.G., Mamedova E.O., Pigarova E.A. et al. Multiple endocrine neoplasia type 1 syndrome with three classical components and chiasm glioma: Specific features of target organ lesions and a clinical observation. Therapeutic Archive. 2015; 87 (12): 122–7 (in Russian).
21. Mistry M, Gupta M, Kaler M. Pregnancy in multiple endocrine neoplasia type 1 equals multiple complications. Obstet Med 2014; 7 (3): 123–5. DOI: 10.1177/1753495X14532634
22. Singh Ospina NTG, Lee RA, Reading CC et al. Safety and efficacy of percutaneous parathyroid ethanol ablation in patients with recurrent primary hyperparathyroidism and multiple endocrine neoplasia type 1. J Clin Endocrinol Metab 2015; 100: E87–90. DOI: 10.1210/jc.2014-3255
23. Montenegro FLM, Brescia MDG, Lourenco DM Jr et al. Could the less-than subtotal parathyroidectomy be an option for treating young patients with multiple endocrine neoplasia type 1-related hyperparathyroidism? Front Endocrinol 2019; 10: 123. DOI: 10.3389/fendo.2019.00123
24. Hultin H, Hellman P, Lundgren E et al. Association of parathyroid adenoma and pregnancy with preeclampsia. J Clin Endocrinol Metab 2009; 94 (9): 3394–9. DOI: 10.1210/jc.2009-0012
25. Kalinina A.P., Kotova I.V., Britvin T.A. et al. Giperkal'tsiemicheskii kriz. Al'manakh klinicheskoi meditsiny. 2014; 32: 101–4 (in Russian).
26. Tonelli F, Marini F, Giusti F, Brandi ML. Total and subtotal parathyroidectomy in young patients with multiple endocrine neoplasia type 1-related primary hyperparathyroidism: potential post-surgical benefits and complications. Front Endocrinol 2018; 9: 558. DOI: 10.3389/fendo.2018.00558
27. Lairmore TCGC, Quinn CE, Sigmond BR et al. A randomized, prospective trial of operative treatments for hyperparathyroidism in patients with multiple endocrine neoplasia type 1. Surgery 2014; 156 (6): 1326–34. DOI: 10.1016/j.surg.2014.08.006
28. Daglar HK, Kirbas A, Biberoglu E et al. Management of a multiple endocrine neoplasia type 1 during pregnancy: A case report and review of the literature. J Exp Ther Oncol 2016; 11 (3): 217–20.
29. Dedov I.I., Mel'nichenko G.A., Mokrysheva N.G. i dr. Pervichnyi giperparatireoz: klinika, diagnostika, differentsial'naia diagnostika, metody lecheniia. Klinicheskie rekomendatsii. Problemy endokrinologii. 2016; 60 (6): 40–77 (in Russian).
30. De Laat JM, van Leeuwaarde RS, Valk GD. The importance of an early and accurate MEN1 diagnosis. Front Endocrinol 2018; 9: 533. DOI: 10.3389/fendo.2018.00533
31. Kamilaris C, Stratakis CA. Multiple Endocrine Neoplasia Type 1 (MEN1): An Update and the Significance of Early Genetic and Clinical Diagnosis. Front Endocrinol 2019; 10: 1–15. DOI: 10.3389/fendo.2019.00339
32. Mokrysheva N.G., Lipatenkova A.K., Taller N.A. Pervichnyi giperparatireoz i beremennost'. Akusherstvo i ginekologiia. 2016; 10: 18–25. DOI: 10.18565/aig.2016.10.18-25 (in Russian).
33. Nunes VSSG, Perone D, Conde SJ, Nogueira CR. Frequency of multiple endocrine neoplasia type 1 in a group of patients with pituitary adenoma: genetic study and familial screening. Pituitary 2014; 17: 30–37. DOI: 10.1007/s11102-013-0531-z
34. Mamedova E.O., Mokrysheva N.G., Pigarova E.A. i dr. Fenokopii sindroma mnozhestvennykh endokrinnykh neoplazii 1 tipa: rol' genov, assotsiirovannykh s razvitiem adenom gipofiza. Problemy endokrinologii. 2016; (4): 4–10 (in Russian).
35. Majumdar A, Mangal NS. Hyperprolactinemia. J Human Reprod Sci 2013; 6 (3): 168–75. DOI: 10.4103/0974-1208.121400
36. Petrov Y.A. Family health – health of the nation. Moscow: Meditsinskaja kniga, 2018. (in Russian)
37. Tevosian L.Kh., Dreval' A.V., Kriukova I.V., Barsukov I.A. Sindrom mnozhestvennoi endokrinnoi neoplazii 1-go tipa: klinicheskii sluchai. RMZh. 2017; 1: 61–3 (in Russian).
38. Vetrov V.V., Vasil'ev V.E., Ivanov D.O. i dr. Sindrom giperstimuliatsii iaichnikov (klinicheskoe nabliudenie). Detskaia meditsina Severo-Zapada. 2012; 3 (2): 61–5 (in Russian).
39. Petrov Iu.A., Kupina A.D., Shatalov A.E. Rol' prolaktinomy v razvitii reproduktivnykh narushenii. Sovremennye problemy nauki i obrazovaniia. 2019; 5. http://science-education.ru/ru/article/view?id=29200 (in Russian)
Авторы
Ю.А. Петров*, А.Д. Купина
ФГБОУ ВО «Ростовский государственный медицинский университет» Минздрава России, Ростов-на-Дону, Россия
*mr.doktorpetrov@mail.ru