电邮这篇文章 
发表评论 Neonatal diabetes mellitus and polycystic ovaries in a child with severe insulin resistance caused by a variant in the INSR gene. Description of the clinical case
- 作者: Ivanov D.1, Taits A.1, Ditkovskaya L.1, Matveeva N.1, Krasnogorskaya O.1, Pozdnyakov A.1, Myznikova I.1, Malysheva A.1, Kuzminykh S.1, Orlova A.1, Veretennikova A.1
-
隶属关系:
- St. Petersburg State Pediatric Medical University
- 期: 卷 13, 编号 5 (2022)
- 页面: 109-119
- 栏目: Clinical observation
- URL: https://journals.rcsi.science/pediatr/article/view/133060
- DOI: https://doi.org/10.17816/PED135109-119
- ID: 133060
如何引用文章
开放存取
##reader.subscriptionAccessGranted##
订阅存取
详细
Rare severe insulin resistance syndromes such as Donohue syndrome, Rabson–Mendenhall syndrome, and type A insulin resistance are caused by mutations in the insulin receptor (INSR) gene. Donohue and Rabson–Mendenhall syndromes are caused by biallelic mutations in the α- and / or β-subunits of INSR, are characterized by a severe course with severe clinical symptoms and an unfavorable prognosis. The difficulty of managing and treating these patients is associated with a low incidence, lack of practice in managing such patients, as well as a lack of experience in surgical interventions in these patients.
All insulin resistance syndromes are characterized by a significant increase in the level of insulin in the blood plasma in the absence of obesity, progressive diabetes mellitus and an excess of androgens. Polycystic ovary syndrome or stromal hyperthecosis develops in adult patients with syndromic forms of insulin resistance.
We present a rare clinical case of a complicated course of Donohue syndrome, diagnosed in a 2-month-old patient. A feature of this clinical case was the giant growing multifollicular ovaries, which became an absolute indication for organ resection surgery.
The experience of treatment and observation of this patient reflects the importance of early verification of the diagnosis, timely appointment of adequate therapy, allows you to objectively assess the effectiveness of the treatment, helps in choosing medical tactics and predicting the course and outcome of the disease.
作者简介
Dmitry Ivanov
St. Petersburg State Pediatric Medical University
Email: doivanov@yandex.ru
MD, PhD, Dr. Sci. (Med.), Professor, Chief Freelance Neonatologist of the Ministry of Health of Russia, Rector, Head of the Department of Neonatology with courses of Neurology and Obstetrics and Gynecology
俄罗斯联邦, Saint PetersburgAnna Taits
St. Petersburg State Pediatric Medical University
Email: annataits1@rambler.ru
MD, PhD, Associate Professor of the Department of Obstetrics and Gynecology with a course in pediatric Gynecology
俄罗斯联邦, Saint PetersburgLiliya Ditkovskaya
St. Petersburg State Pediatric Medical University
编辑信件的主要联系方式.
Email: liliya-ditkovskaya@yandex.ru
MD, PhD, Associate Professor, Dean of the Faculty of Postgraduate and Additional Professional Education, Professor I.M. Vorontsov Department of Children's Diseases of FP and DPO
俄罗斯联邦, Saint PetersburgNadezhda Matveeva
St. Petersburg State Pediatric Medical University
Email: rastec@mail.ru
Associate Professor, of the Department of Hospital Therapy with the course of Endocrinology
俄罗斯联邦, Saint PetersburgOlga Krasnogorskaya
St. Petersburg State Pediatric Medical University
Email: krasnogorskaya@yandex.ru
MD, PhD, Associate Professor, Head of the Pathology Department
俄罗斯联邦, Saint PetersburgAlexander Pozdnyakov
St. Petersburg State Pediatric Medical University
Email: pozdnyakovalex@yandex.ru
MD, PhD, Dr. Sci. (Med.), Professor, Head of the Department of Medical Biophysics
俄罗斯联邦, Saint PetersburgIrina Myznikova
St. Petersburg State Pediatric Medical University
Email: irinayurko2014@yandex.ru
Head of the Department of Pathology of Newborns and Premature Infants
俄罗斯联邦, Saint PetersburgAnna Malysheva
St. Petersburg State Pediatric Medical University
Email: aa.malisheva@gpmu.org
Obstetrician-Gynecologist of the Gynecological Department of the Perinatal Center
俄罗斯联邦, Saint PetersburgSvetlana Kuzminykh
St. Petersburg State Pediatric Medical University
Email: sv.kusminih@gpmu.org
Pediatric Surgeon of the Operating Department of the Perinatal Center
俄罗斯联邦, Saint PetersburgAnastasia Orlova
St. Petersburg State Pediatric Medical University
Email: ad.orlova@gpmu.org
Obstetrician-Gynecologist, Gynecological Department of the Perinatal Center
俄罗斯联邦, Saint PetersburgAnna Veretennikova
St. Petersburg State Pediatric Medical University
Email: aa.veretennikova@gpmu.org
Neonatologist of the Department of Pathology of Newborns and Premature Infants of the Clinic
俄罗斯联邦, Saint Petersburg参考
- Atanesyan RA, Klimov LYu, Vdovina TM, et al. Long-term follow-up of a child with Rabson–Mendenhall syndrome. Problems of Endocrinology. 2017;63(2):134–138. (In Russ.) doi: 10.14341/probl2017632134-138
- Ivanov DO, Atlasov VO, Bobrov SA, et al. Rukovodstvo po perinatologii. Saint Petersburg: Inform-Navigator, 2015. 1216 p. (In Russ.)
- Kuraeva TL, Zil’berman LI, Titovich EV, Peterkova VA. Genetics of monegenic forms of diabetes mellitus Diabetes mellitus. 2011;14(1):20–27. (In Russ.) doi: 10.14341/2072-0351-6246
- Pankov YuA. Diabetes mellitus and other pathology in patients with INS and INSR mutations. Diabetes mellitus. 2012;15(4):11–16. (In Russ.) doi: 10.14341/2072-0351-5532
- Strukov EL, Pokhlebkina AA. Diabetes. Some modern epedimeological, genetic and ontogenetic aspects. University therapeutic journal. 2020;2(3):42–48. (In Russ.)
- Tikhonovich YuV, Malievsky OA, Tyul’pakov A. Description of the first genetically confirming case with Donahue’s syndrome in Russia. Problems of Endocrinology. 2016;62(2):42–45. (In Russ.) doi: 10.14341/probl201662242-45
- Turkunova ME, Ditkovskaya LV, Suspitsin EN, et al. Neonatal diabetes mellitus in the structure of IPEX syndrome. Pediatrician (St. Petersburg). 2017;8(2): 99–104. (In Russ.) doi: 10.17816/PED8299-104
- Hirschberg AL. Polycystic ovary syndrome, obesity and reproductive implications. Women, s Health. 2009;5(5):529–542. doi: 10.2217/WHE.09.39
- Vambergue A, Lautier C, Valat AS, et al. Dewailly. Follow-up study of two sisters with type A syndrome of severe insulin resistance gives a new insight into PCOS pathogenesis in relation to puberty and pregnancy outcome: a case report. Hum Reprod. 2006;21(5): 1274–1278. doi: 10.1093/humrep/dei455
- Kirel B, Bozdağ Ö, Köşger P, et al. A case of Donohue syndrome “Leprechaunism” with a novel mutation in the insulin receptor gene. Turk Pediatri Ars. 2017;52(4): 226–230. doi: 10.5152/TurkPediatriArs.2017.3193
- Huggard D, Stack T, Satas S, O Gorman C. Case Report Donohue syndrome and use of continuous subcutaneous insulin pump therapy. BMJ Case Report. 2015;2015: 2015210019. doi: 10.1136/bcr-2015-210019
- Tuhan H, Ceylaner S, Nalbantoğlu Ö, et al. A mutation in INSR in a child presenting with severe acanthosis nigricans. J Clin Res Pediatr Endocrinol. 2017;9(4): 371–374. doi: 10.4274/jcrpe.4577
- Lai L, Mikhchi A, Ryabets-Lienhard A, et al. Reversible severe ovarian enlargement in an infant with significant insulin resistance. Radiol Case Rep. 2021;16(7): 1760–1765. doi: 10.1016/j.radcr.2021.03.067
- Geffner ME, Golde DW. Selective insulin action on skin, ovary, and heart in insulin-resistant states. Diabetes care. 1988;11(6):500–505. doi: 10.2337/diacare.11.6.500
- Whitehead JP, Soos MA, Jackson R, et al. Multiple molecular mechanisms of insulin receptor dysfunction in a patient with Donohue syndrome. Diabetes. 1998;47(8):1362–1364. doi: 10.2337/diab.47.8.1362
- Singh P, Agress A, Madrigal VK, et al. Massive ovarian growth in a woman with severe insulin-resistant polycystic ovary syndrome receiving GnRH analogue. J Clin Endocrinol Metab. 2019;104(7):2796–2800. doi: 10.1210/jc.2018-02464
补充文件
