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Post a Comment 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
- Authors: Ivanov D.O.1, Taits A.N.1, Ditkovskaya L.V.1, Matveeva N.N.1, Krasnogorskaya O.L.1, Pozdnyakov A.V.1, Myznikova I.V.1, Malysheva A.A.1, Kuzminykh S.V.1, Orlova A.D.1, Veretennikova A.A.1
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Affiliations:
- St. Petersburg State Pediatric Medical University
- Issue: Vol 13, No 5 (2022)
- Pages: 109-119
- Section: Clinical observation
- URL: https://journals.rcsi.science/pediatr/article/view/133060
- DOI: https://doi.org/10.17816/PED135109-119
- ID: 133060
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Abstract
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.
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##article.viewOnOriginalSite##About the authors
Dmitry O. 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
Russian Federation, Saint PetersburgAnna N. 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
Russian Federation, Saint PetersburgLiliya V. Ditkovskaya
St. Petersburg State Pediatric Medical University
Author for correspondence.
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
Russian Federation, Saint PetersburgNadezhda N. Matveeva
St. Petersburg State Pediatric Medical University
Email: rastec@mail.ru
Associate Professor, of the Department of Hospital Therapy with the course of Endocrinology
Russian Federation, Saint PetersburgOlga L. Krasnogorskaya
St. Petersburg State Pediatric Medical University
Email: krasnogorskaya@yandex.ru
MD, PhD, Associate Professor, Head of the Pathology Department
Russian Federation, Saint PetersburgAlexander V. Pozdnyakov
St. Petersburg State Pediatric Medical University
Email: pozdnyakovalex@yandex.ru
MD, PhD, Dr. Sci. (Med.), Professor, Head of the Department of Medical Biophysics
Russian Federation, Saint PetersburgIrina V. Myznikova
St. Petersburg State Pediatric Medical University
Email: irinayurko2014@yandex.ru
Head of the Department of Pathology of Newborns and Premature Infants
Russian Federation, Saint PetersburgAnna A. Malysheva
St. Petersburg State Pediatric Medical University
Email: aa.malisheva@gpmu.org
Obstetrician-Gynecologist of the Gynecological Department of the Perinatal Center
Russian Federation, Saint PetersburgSvetlana V. Kuzminykh
St. Petersburg State Pediatric Medical University
Email: sv.kusminih@gpmu.org
Pediatric Surgeon of the Operating Department of the Perinatal Center
Russian Federation, Saint PetersburgAnastasia D. Orlova
St. Petersburg State Pediatric Medical University
Email: ad.orlova@gpmu.org
Obstetrician-Gynecologist, Gynecological Department of the Perinatal Center
Russian Federation, Saint PetersburgAnna A. 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
Russian Federation, Saint PetersburgReferences
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