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.Differential diagnosis of various forms of congenital hyperinsulinism (CH) is required at the stage of urgent histological examination, but the difference between the exo- and endocrine parts of the pancreas in frozen sections is visualized very poorly.The objective was to search for differential diagnostic criteria of focal and diffuse forms of CH, suitable for urgent histological examination.Methods and materials. Pancreatic surgery material from 25 children with CH, of which 15 cases of focal form (FCH) and 10 cases of diffuse (DСH), and autopsy material from 10 children without CH (K). Frozen and paraffin sections stained with hematoxylin-eosin and histochemical stains were made from the tissue of the pancreas. The number of endocrinocytes with large nuclei was estimated in 10 fields of view for each case.Results. The average proportion of endocrinocytes with large nuclei was significantly (p <0.01) higher compared to the control both with FCH (in the affected area) and DCH (FCH – (1.82±0.50) %, DCH – (4.68±1.66) %, K – (0.34±0.21) %). We found a tendency to detect a higher absolute number of cells with large nuclei in DCH ((4.95±1.24) DCH and (3.71±1.56) FCH). Staining with azure-eosin, picro Mallory and the PAS reaction gave unstable result, and staining with toluidine blue and May-Grunwald did not allow differentiating exo- and endocrine parts of the pancreas.Conclusion. An increase in the size of the endocrinocyte nuclei was the unsuitable criterion for the differential diagnosis of CH forms, and histochemical stains did not give a stable qualitative result. For urgent biopsy examination, new immunohistochemical methods are needed.

Резюме Актуальность. Врожденный гиперинсулинизм (ВГ) характеризуется персистирующей гипогликемией, приводящей к необратимому повреждению коры головного мозга. Атипичная форма ВГ (АВГ) остается практически неизученной. Цель. Описание гистологических и иммуногистохимических особенностей поджелудочной железы (ПЖ) при АВГ. Материалы и методы. Материал для исследованияфрагменты резецированной ПЖ 3 детей с АВГ возрастом 3, 6 и 7 месяцев. Контрольная группа-ПЖ 9 детей, умерших от пороков сердца. Ткань ПЖ окрашивалась гематоксилином и эозином, проводилась иммуногистохимическая реакция с антителами к хромогранину А, соматостатину и факторам транскрипции (ФТ) NeuroD1, Nkx2.2 и Isl1. Результаты. У всех пациентов наблюдались гиперплазированные островки Лангерганса, которые местами сливались друг с другом. У двоих пациентов поражение ограничивалось участком ПЖ, а у одного захватывало всю железу. У всех пациентов резко повышалась (р < 0,01) экспрессия NeuroD1 как в экзокринной, так и в эндокринной частях ПЖ в зоне поражения:

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.