hrp0095p2-81 | Diabetes and Insulin | ESPE2022

Steroid-induced diabetes mellitus in children and adolescents: risk factors, course features, treatment specifics and prognosis on example of 10 patients

Frolova Elena , Shirokova Irina , Makretskaya Nina

Background: SIDM is not a common complication of high-dose glucocorticoid therapy (HD-GC) in pediatric practice. There are no clear generally accepted approaches to SIDM treatment. In 10 cases, we present the identified patterns of predictors, course, features of the treatment of SIDM in children and adolescents.Methods: 10 case histories of children with SIDM were analyzed. 4 boys, 6 girls, age 8-17.5 years, median 15 y...

hrp0089p2-p019 | Adrenals and HPA Axis P2 | ESPE2018

Two Cases of Apparent Mineralocorticoid Excess due to Novel Mutations in HSD11B2 Gene

Makretskaya Nina , Kostrova Irina , Tiulpakov Anatoly

Background: Human HSD11B2 metabolizes active cortisol into cortisone and protects the mineralocorticoid receptor from glucocorticoid occupancy. Loss of function mutations in HSD11B2 gene cause a rare autosomal recessive disorder, apparent mineralocorticoid excess, resulting in low-renin hypertension and hypokalemia.Objective: We present 2 children with apparent mineralocorticoid excess. Case 1, a boy presenting at 11 yea...

hrp0089p3-p274 | Multisystem Endocrine Disorders P3 | ESPE2018

The Case of Combination of Multinodular Goiter and Sertoli-Leydig Cell Ovarian Tumor due to Mutation in DICER1 Gene

Kolodkina Anna , Makretskaya Nina , Tiulpakov Anatoly

Background: Pathogenic germline DICER1 variants cause a hereditary cancer predisposition syndrome with a variety of manifestation. In addition to conferring increased cancer risks for pleuropulmonary blastoma (PPB) and ovarian sex cord-stromal tumors, particularly Sertoli–Leydig cell tumor, individuals with pathogenic germline DICER1 variants could also have lung cysts, cystic nephroma, multinodular goiter, ciliary body medulloepithelioma, genitourinary embryonal rhabdomy...

hrp0092p2-157 | GH and IGFs | ESPE2019

Long-Term Follow-Up of Three Patients with Isolated Growth Hormone Deficiency Type IA Withsustained Growth Response to rhGH

Makretskaya Nina , Babinskaya Svetlana , Chikulaeva Olga , Tiulpakov Anatoly

Background: Isolated growth hormone deficiency type IA (IGHD IA) is described in families with homozygous GH1 deletions that arise from unequal recombination and crossing over within the GH gene cluster during meiosis. Patients with IGHD IA show early and severe growth failure and tend to develop antibodies upon treatment with recombinant human growth hormone (rhGH).Aims: To present the follow−up of three ...

hrp0092p1-332 | Diabetes and Insulin (2) | ESPE2019

Targeted Next-Generation Sequencing Demonstrates High Frequency of MODY in Russian Children.

Zubkova Natalia , Laptev Dmitry , Sorokin Daniil , Makretskaya Nina , Petrov Vasily , Vasilyev Evgeny , Tiulpakov Anatoly

Background: Maturity-onset diabetes of the young (MODY) is a heterogeneous group of disorders characterised by autosomal dominant type of inheritance and caused by genetic defects leading to dysfunction of pancreatic beta-cells. At least 13 types of MODY have been described in the literature, the most frequent of which are MODY types 1–3. The frequency of different MODY types in children in Russia has not been studied before.<strong...

hrp0092p2-250 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

High Prevalence GnRH Receptor Mutations in Russian Patients with Idiopathic Hypogonadotropic Hypogonadism

Frolova Elena , Makretskaya Nina , Kalinchenko Natalya , Kolodkina Anna , Zubkova Natalya , Petrov Vasiliy , Vasilyev Evgeniy , Tiulpakov Anatoly

Background: GNRHR gene mutations are responsible for development to normosmic idiopathic hypogonadotropic hypogonadism (iHH) and known to be the most frequent cause of this condition. Nevertherless, the reported frequency of GNRHR mutations in iHH patients estimated to be as low as 3-6%.Objective: To evaluate the frequency of GNRHR gene defects in a heterogeneous group of Russian patients with iHH and described the p...

hrp0089p1-p070 | Diabetes &amp; Insulin P1 | ESPE2018

Birth Weight in Offsprings of Mothers with Gestational Diabetes Mellitus due to Mutations in GCK Gene

Zubkova Natalia , Burumkulova Fatima , Petrukhin Vasily , Plechanova Margarita , Panov Anton , Ulyatovskaya Victoria , Makretskaya Nina , Tiulpakov Anatoliy

Background: The prevalence of MODY2 in the gestational diabetic population has been estimated to be approximately 2%. Risk of macrosomia in GCK/GDM cases depends on maternal glycemic control and fetal mutation status. However, the fetal genotype is unknown before birth. We assessed the effects of insulin therapy on the birth weight of children born to mothers with GCK mutations.Objective and hypotheses: The study included 38 patients with GDM due to GCK ...

hrp0084p2-166 | Adrenals | ESPE2015

Late Diagnosis of Adrenal Insufficiency Caused by Novel Compound Heterozygous Mutations in Proopiomelanocortin

Frolova Elena , Shirokova Irina , Karpova Svetlana , Kolodkina Anna , Makretskaya Nina , Tiulpakov Anatoly

Background: Proopiomelanocortin (POMC) deficiency is characterised clinically by adrenal insufficiency, obesity and red hair. As a rule, such patients present early in life with severe hypoglycemia, which leads to initiation of glucocorticoid therapy. We describe here a case of POMC deficiency, where adrenal insufficiency was not diagnosed until the fourth year of life.Objective and hypotheses: To present a case of late diagnosis of POMC deficiency and c...

hrp0097p1-544 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Clinical and laboratory characteristics of arginine vasopressin resistance and high carrier frequency of a novel homozygous variant p.R113C in the AQP2 gene among Buryats

Makretskaya Nina , Nanzanova Ulyana , Hamaganova Irina , Eremina Elena , Filatova Alexandra , Skoblov Mikhail , Tiulpakov Anatoly

Background: Congenital nephrogenic diabetes insipidus (arginine vasopressin resistance) is a rare inherited disorder characterized by insensitivity of the kidney to the antidiuretic effect of vasopressin. About 90% cases nephrogenic diabetes insipidus is an X-linked recessive disorder caused by variants in the AVP V2 receptor gene (AVPR2). In the remaining cases (10%) the disease is autosomal recessive or dominant and, for these patients, variants in ...

hrp0097p1-577 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

High carrier frequency of a splicing c.589G>A variant in the SRD5A2 gene among Buryats

Makretskaya Nina , Nanzanova Ulyana , Kalinchenko Natalia , Hamaganova Irina , Eremina Elena , Filatova Alexandra , Skoblov Mikhail , Tiulpakov Anatoly

Background: 5-α-reductase type 2 enzyme catalyzes the conversion of testosterone into dihydrotestosterone, a potent androgen responsible for male sexual development during the fetal period. From 2017 to 2019, a homozygous hg38_chr2:31529414 C>T variant in SRD5A2 gene have been identified in 3 unrelated patients with DSD 46,XY of Buryat origin. The variant has been previously reported in one patient from China (Song et al, 2019) and l...