BACKGROUND: Congenital hyperinsulinism (CHI) is a severe disease with a high risk of complications including neurological deficit. Persistent hypoglycemia in patients with focal form of CHI can not be managed with medical treatment in 96.4% of cases, what subsequently leads to surgical treatment. Currently, there is a lack of information regarding patients with focal form of CHI. This study is aimed at finding better approaches for diagnosis and treatment of patients with focal form of CHI. AIMS: To study clinical, genetic and PET/CT findings of the focal form of CHI in Russian group of patients. MATERIALS AND METHODS: The observational research included all patients with a histologically confirmed focal form of CHI, who were admitted to Endocrinology Research Centre during the period from January 2008 to January 2019. A statistical analysis of clinical data, genotype, and positron emission tomography (PET) with 18F-dihydroxyphenylalanine (18F-DOPA) was performed. The median follow-up was 18 months. RESULTS: The study included 31 patients with focal CHI (14 boys, 45.2%). All patients had a neonatal presentation of the disease and demanded high levels of continuous glucose infusion to maintain euglycemia. The difference between the age of hypoglycemia presentation and the age of diagnosis ranged from 1 day to 3.9 months. In all cases, diazoxide was found to be ineffective. However, in 9 patients, it was possible to withdraw continuous glucose infusion and maintain euglycemia using octreotide in the preoperative period. A molecular genetic study allowed us to detect diverse pathogenic variants in ABCC8 and KCNJ11 genes in 30 patients. According to PET data with 18F-DOPA, the pancreatic index (PI) varied widely from 1.16 to 3.59. After partial resection of the pancreatic region with insulin hypersecretion, all patients showed complete recovery. CONCLUSIONS: The focal form of CHI is a severe condition with high prevalence of neurological complications. For preoperative diagnosis of the morphological form of the disease, it is necessary to conduct genetic analysis and radionuclide studies. Solely evaluation of mathematical parameters in 18F-DOPA PET without taking into account the visual data and the results of genetic analysis does not allow establishing the robust diagnosis. Timely diagnosis, identification of risk factors, and prevention of complications of persistent hypoglycemia are important tasks for clinicians.

Herlyn–Werner–Wunderlich syndrome (OHVIRA syndrome) is a combined malformation of the genitourinary systeme, characterized by various combinations of uterus dydelphys with unilateral obstructed (or blind) hemivagina and ipsilateral renal agenesis. The causes of mistakes in diagnosis and treatment are common because of relative rarity of anomaly, insufficient awareness of practitioners about the syndrome and the lack of multidisciplinary approach. Untimely and tactically chaotic diagnosis of Herlyn–Werner–Wunderlich syndrome leads to a misconception about the clinical situation, wrong choice in treatment, and, as a consequence, to complications such as strictures, widespread adhesions and inflammation, as well as irreversible changes in the topography of organs of the small pelvis with a subsequent deterioration in reproductive status of patient. This article provides a review of the literature on the problem, considers the clinical cases of diagnosing this defect in prepubertal patients.

Introduction. Penile agenesis (aphallia) is an extremely rare congenital defect characterized by the complete absence of the penis in a child with a male karyotype 46XY.Material. The analysis of the literature on keywords in the Pubmed and Medline databases was carried out.Results. The incidence of aphallia is estimated 1 out of 10-40 million newborn boys. Aphallia, in spite of its rarity, is a congenital defect which is thoroughly described in the medical literature. The combination of agenesis of the penis with other congenital anomalies often leads to death in such children. Currently, it is believed that these patients should be left with their genetic male sex, therefore, there is a difficult dilemma of choosing the optimal method and age for creating the neophallus and neourethra.Conclusions. The rarity of the aphallia determines the lack of publications covering the long-term results of phalloplasty in both children and adults.

Congenital hyperinsulinism causes irreversible damage to the cerebral cortex with subsequent disability in children. The article presents the features of etiopathogenesis, clinical picture of the disease. The histological variants of pancreatic lesions are analyzed in detail. The principles of correct diagnosis are formulated. A new in Russia method for the preoperative determination of the histological form of the disease, which is carried out at the y, Almazov National Medical Research Centre since 2017, – PET/ CT with 18F-DOPA, explained the biochemical basis of its clinical application and the examination technique. The principles of the selection of drug therapy with possible complications, the need for an adequate assessment of its effectiveness are described. If it is impossible to achieve a stable target euglycemia without the need for intravenous glucose infusion, surgical correction of the disease is indicated. In schematic drawings and intraoperative photographs, approaches to surgical treatment are described, the stages of operations and possible complications are clearly disassembled. The results of surgical interventions at the N.N. V.A. Almazov for 01.2017–02.2021, where 39 children with congenital hyperinsulinism were operated on. According to PET/CT with 18F-DOPA, 15 diffuse and 24 focal forms were diagnosed. After surgery, in 12 (31%) patients, a diffuse lesion of the gland was confirmed, in 23 (59%) – a focal nature of the lesion, in 4 (10%) – an atypical form was diagnosed intraoperatively. Of 39 children, 36 (92%) have complete relief of hyperinsulinism, a significant improvement in psychomotor development, of which 9 (23%) need insulin replacement therapy with minimal dosages, these are 8 children with a diffuse form of the disease and 1 child with an atypical one. Intraand postoperative complications were not observed. Thus, partial pancreatectomy for focal forms, subtotal for atypical and near total for diffuse forms, can cope with hypoglycemia due to congenital hyperinsulinism and prevent damage to the central nervous system of newborns and infants.