Case Reports

Issue Title File
Vol 64, No 5 (2018) Description of the first case of a rare form of isolated deficiency of glucocorticoids due to mutations in the gene NNT
Chernyak I., Kalinchenko N., Tlif A., Kleshenko E., Petrov V., Vasiliev E., Tyulpakov A.
Vol 64, No 5 (2018) Positron emission tomography, combined with computed tomography with 18F-fluorocholine in topical diagnosis of parathyroid glands tumors and secondary changes in bone tissue in hyperparathyroid osteodystrophy. Two clinical observations. PDF
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Mokrysheva N., Krupinova J., Dolgushin M., Odzharova A., Voronkova I., Voskoboynikov V., Kuznecov N.
Vol 64, No 5 (2018) Differential diagnosis of congenital hyperinsulinism histological form using [18F]-DOPA PET/CT PDF
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Gubaeva D., Melikian M., Ryjkova D., Mitrofanova L., Nikitina I.
Vol 64, No 4 (2018) The features of cataract surgery in a patient with Graves’ disease and endocrine ophthalmopathy PDF
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Lipatov D.V., Sviridenko N.Y., Bessmertnaya E.G., Tolkacheva A.A.
Vol 64, No 4 (2018) A case of combination of two autoimmune diseases: type 1 diabetes mellitus and systemic scleroderma in a 13-year-old girl PDF
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Titovich E.V., Andrianova E.A.
Vol 64, No 3 (2018) Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a case report PDF
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Khramova E.B., Khorosheva E.Y., Perfilova O.V.
Vol 64, No 3 (2018) The rare form of congenital adrenal hyperplasia caused by an autosomal dominant form of STAR deficiency PDF
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Kalinchenko N.Y., Chistousova G.V., Petrov V.M., Vasiliev E.V., Tiulpakov A.N.
Vol 64, No 2 (2018) Problems of the differential diagnosis of MODY3 in obesity PDF
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Sechko E.A., Andrianova E.A., Ivanova O.N., Kuraeva T.L.
Vol 64, No 2 (2018) Late-diagnosed salt-wasting congenital adrenal hyperplasia in adult patient PDF
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Rozhinskaya L.Y., Kalinchenko N.Y., Belaya Z.E., Zenkova T.S., Lutsenko A.S., Bittirova A.A.
Vol 64, No 2 (2018) A familial case of insulin-dependent diabetes mellitus with a mutation in the PTF1A gene PDF
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Svetlova G.N., Kuraeva T.L., Sechko E.A., Peterkova V.A.
Vol 64, No 1 (2018) Familial case of late diagnosis of Persistence of Müllerian derivatives syndrome type 1 PDF
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Kalinchenko N.Y., Brovin D.N., Kostrova I.B., Petrov V.M., Vasiliev E.V., Tiulpakov A.N.
Vol 64, No 1 (2018) Neonatal hypoglycemia in the De Morsier syndrome PDF
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Kovalenko T.V., Petrova I.N., Tarasova T.Y.
Vol 64, No 1 (2018) Disorder of sex development 46,XY associated with mutations in the gene MAP3K1. The report of clinical cases PDF
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Kopylova I.V., Kuznetsova E.S., Chugunov I.S., Orlova E.M., Danilenko O.S., Brovin D.N., Kareva M.A., Peterkova V.A.
Vol 64, No 1 (2018) Familial case of normosmic hypogonadotropic hypogonadism with polydactyly, associated with defect of FGFR1 gene PDF
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Gerasimova M.V., Kalinchenko N.U., Vasiliev E.V., Petrov V.M., Tiulpakov A.N.
Vol 63, No 6 (2017) Treatment of hypoparathyroidism with the recombinant parathyroid hormone (1—34) in a female patient with type 1 autoimmune polyglandular syndrome: the first experience in the Russian Federation PDF
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Sozaeva L.S., Orlova E.M., Kareva M.A., Sviridenko N.Y., Molashenko N.V., Kuzmin A.G., Peterkova V.A.
Vol 63, No 5 (2017) A case report of concomitant myopathy, adrenal insufficiency, and mental retardation linked with deletion of Xp21 PDF
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Orlova E.M., Kurkina M.V., Sozaeva L.S., Kareva M.A., Kanivets I.V., Antonets A.A., Zakharova E.Y.
Vol 63, No 5 (2017) Mediastinal teratoma with mature fetal pancreatic tissue, nesidioblastosis and focal hyperplasia of neuroendocrine cells. A case report PDF
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Rumyantsev P.O., Abrosimov A.Y., Tertychnyi A.S., Selivanova L.S., Slashchuk K.Y.
Vol 63, No 5 (2017) Carbohydrate metabolism disorders in salicylate poisoning: diagnostic problems and physician’s tactics PDF
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Petryaykina E.E., Vykhristyuk O.F., Koltunov I.E.
Vol 63, No 5 (2017) A clinical case of hereditary papillary thyroid carcinoma associated with a germline DICER1 gene mutation PDF
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Babinskaya S.A., Kalinchenko N.Y., Ilyin A.A., Severskaya N.V., Chebotareva I.V., Nizhegorodova K.S., Rumyantsev P.O., Tiulpakov A.N.
Vol 63, No 4 (2017) The efficacy of dopamine agonist therapy in a young man with a giant prolactinoma: case report PDF
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Tsiberkin A.I., Karonova T.L., Dalmatova A.B., Grineva E.N.
Vol 63, No 4 (2017) Large goiter in a patient with congenital hypothyroidism PDF
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Bolmasova A.V., Melikyan M.A., Filippova E.A., Narogan M.V., Podurovskaya Y.L., Kotova A.N.
Vol 63, No 2 (2017) HCG-secreting hepatoblastoma PDF
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Koroleva D.N., Olina T.S., Kovalenko T.V.
Vol 63, No 2 (2017) Glycogenosis type IX in a 9-year-old child PDF
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Bolotova N.V., Averyanov A.P., Filina N.Y., Zaharova E.Y., Melikyan M.A., Velikotskaya O.A., Strokova T.V., Paltseva Y.V.
Vol 63, No 2 (2017) Combination of lipoatrophic diabetes mellitus with systemic scleroderma and phenylketonuria PDF
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Svetlova G.N., Kuraeva T.L., Alekseev D.L., Peterkova V.A.
Vol 63, No 2 (2017) Long-term follow-up of a child with Rabson—Mendenhall syndrome PDF
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Atanesyan R.A., Klimov L.Y., Vdovina T.M., Uglova T.A., Stoyan M.V., Kuryaninova V.A., Alaverdyan L.S., Krasilnikova E.E., Arakelyan R.I.
Vol 63, No 2 (2017) Pseudohypertrophic myopathy in a child with hypothyroidism (Kocher—Debre—Semelaigne syndrome) PDF
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Bogova E.A., Shiryaeva T.Y.
Vol 63, No 2 (2017) Masks of severe acquired hypothyroidism in preschool children PDF
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Alimova I.L., Labyzova Y.V.
Vol 63, No 2 (2017) De la Chapelle syndrome: clinical and laboratory characteristics of 4 patients PDF
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Sannikova E.S., Latyshev O.Y., Samsonova L.N., Kiseleva E.V., Okminyan G.F., Kasatkina E.P.
Vol 63, No 2 (2017) Growth and sexual retardation in a boy with celiac disease PDF
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Brzhezinski L.B., Latyshev O.Y., Samsonova L.N., Okminyan G.F., Kiseleva E.V., Kasatkina E.P., Pykov M.I.
Vol 63, No 2 (2017) Papillary thyroid cancer in an adolescent with a toxic single nodular goiter PDF
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Rogova O.S., Okminyan G.F., Samsonova L.N., Kiseleva E.V., Latyshev O.Y., Egarmina N.N., Kasatkina E.P.
Vol 63, No 2 (2017) A case of congenital hypothyroidism combined with sensorineural hearing loss (Pendred syndrome) caused by a TPO gene defect PDF
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Makretskaya N.A., Bezlepkina O.B., Chikulaeva O.A., Vasilyev E.V., Petrov V.M., Dedov I.I., Tiulpakov A.N.
Vol 63, No 2 (2017) A case of nephrogenic syndrome of inappropriate antidiuresis caused by a mutation of the vasopressin type 2 receptor PDF
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Makazan N.V., Zubkova N.A., Tiulpakov A.N.
Vol 63, No 2 (2017) Cushing’s syndrome in an infant PDF
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Kareva M.A., Makazan N.V., Orlova E.M., Poddubnyi I.V., Peterkova V.A.
Vol 63, No 2 (2017) Mutations in the ghrelin receptor gene GHSR in congenital hypopituitarism PDF
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Bashnina E.B., Berseneva O.S., Glotov A.S., Glotov O.S., Turkunova M.E., Serebryakova E.A., Baranov V.S.
Vol 63, No 3 (2017) A novel heterozygous mutation in POU1F1 is associated with combined pituitary hormone deficiency PDF
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Gavrilova A.E., Nagaeva E.V., Rebrova O.Y., Shiryaeva T.Y., Tiulpakov A.N., Peterkova V.A.
Vol 63, No 3 (2017) Insulin autoimmune syndrome: a rare cause of hypoglycemia. The case report of the syndrome in pediatric practice PDF
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Kuznetsova E.S., Pilipenko O.V., Melikyan M.А.
Vol 63, No 3 (2017) The case of Crohn's disease in a child with congenital growth hormone deficiency. PDF
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Bashnina E.B., Berseneva O.S., Korytko T.E., Turkunova M.E.
Vol 63, No 3 (2017) Ovotesticular disorder of sexual development in a patient with 46,XY karyotype PDF
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Raygorodskaya N.Y., Bolotova N.V., Jarkov D.A., Palatova T.V., Dorovskaya N.S.
Vol 63, No 3 (2017) Hypopituitarism due to mutation in the PROP1 gene in association with the 47,XYY karyotype and autosomal dominant atrioventricular septal defect: two case reports PDF
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Gubaeva D.N., Orlova E.M., Pankratova M.S., Vorontsov A.V., Kareva M.А.
Vol 63, No 3 (2017) Hypoglycemia as a manifestation of congenital multiple pituitary hormone deficiency in patients without growth retardation: a clinical series PDF
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Kareva M.A., Orlova E.M., Melikyan M.A., Vorontsov A.V., Vladimirova V.P., Peterkova V.A.
Vol 63, No 3 (2017) Familial case of congenital hyperinsulinism associated with mutation in the GLUD1 gene PDF
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Melikyan M.A., Tiulpakov A.N., Kareva M.A.
Vol 63, No 1 (2017) Thyrotoxic hepatitis PDF
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Pikulev D.V., Klemenov A.V.
Vol 63, No 1 (2017) TSH-secreting pituitary adenoma: late diagnosis and effectiveness of therapy PDF
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Petrik G.G., Kosmacheva E.D., Polyakova U.I., Butaeva S.V., Rozhinskaya L.Y., Belaya Z.E.
Vol 63, No 1 (2017) IDIOPATHIC INFANTILE HYPERCALCEMIA . DESCRIPTION OF CLINICAL CASES AND REVIEW. PDF
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Tikhonovich Y.V., Kolodkina A.A., Kulikova K.S., Golubkina Y.Y., Kalinchenko N.Y., Savelieva L.V., Kostik M.M., Rozhinskaya L.Y., Tiulpakov A.N.
Vol 62, No 6 (2016) Three RET germ-line mutations in a family with multiple endocrine neoplasia type 2A syndrome PDF
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Severskaya N.V., Polyakov V.G., Shishkov R.V., Ilin A.A., Ivanova N.V., Pavlovskaya A.I., Kozlova V.M., Amosenko F.A., Lyubchenko L.N., Kazubskaya T.P., Koshechkina N.A., Mikhailova E.V., Matveeva I.I., Serebryakova I.N., Mikhailova S.N., Kalinchenko N.Y.
Vol 62, No 3 (2016) Case of congenital hypothyroidism related to NKX2-1 PDF
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Makretskaya N.A., Kalinchenko N.Y., Vasiliev E.V., Petrov V.M., Tiulpakov A.N.
Vol 62, No 4 (2016) ACTH-producing medullary thyroid cancer. Clinical case. PDF
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Marova E.I., Rozhinskaya L.Y., Voronkova I.A., Remizov O.V., Zavalishina A.I., Slashchuk K.Y., Davydov M.I., Brzhezovsky V.Z., Gerasimov S.A., Chekini A.K., Stelmach D.K., Pak M.B.
Vol 62, No 2 (2016) Description of the first genetically confirming case with Donahue’s syndrome in Russia PDF
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Tikhonovich Y.V., Malievsky O.A., Tyul'pakov A.
Vol 62, No 3 (2016) Hereditary variant of diabetes mellitus caused by a defect of the NEUROD1 gene (MODY6): the first description in Russia PDF
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Gioeva O.A., Kolodkina A.A., Vasilyev E.V., Petrov V.M., Tiulpakov A.N.
Vol 62, No 3 (2016) Сushing’s syndrome in early infancy due to МcCune—Albright syndrome PDF
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Makazan N.V., Orlova E.M., Kareva M.A., Poddybnyi I.V., Tolstov K.N., Polyakova G.A., Bogdanova P.S., Peterkova V.A., Dedov I.I.
Vol 62, No 1 (2016) ACTH ectopic syndrome caused by corticomedullary mixed tumor PDF
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Marova E.I., Kuznetsov N.S., Rozhinskaya L.Y., Remizov O.V., Latkina N.V., Tikhonova O.V., Kats L.E., Voronkova I.A., Lapshina A.M., Kolesnikova G.S.
Vol 62, No 1 (2016) The first clinical presentation of disorders of sex development 46 XY due to mutation in Steroidogenic factor 1 (SF1) in Russian Literature PDF
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Kalinchenko N.Y., Anosova T.A., Ioutsi V.A., Tiulpakov A.N.
Vol 61, No 6 (2015) Rare form of Permanent Neonatal Diabetes Mellitus (PNDM) due to novel mutation in EIF2AK3 gene (Wolcott—Rallison syndrome) PDF
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Tikhonovich Y.V., Stotikova O.V., Rubtsov P.M., Tiulpakov A.N.
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