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

Abstract

Rare severe insulin resistance syndromes such as Donohue syndrome, RabsonMendenhall syndrome, and type A insulin resistance are caused by mutations in the insulin receptor (INSR) gene. Donohue and RabsonMendenhall syndromes are caused by biallelic mutations in the - and / or -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.