ESPE Abstracts

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...

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...

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...

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 ...

Background: Congenital adrenal hyperplasia (CAH) caused by 3ß-HSD deficiency is a rare form of congenital adrenal deficiency with an autosomal recessive type of inheritance. We have previously demonstrated that a single nucleotide variant NM_000198.3:c.690G>A (P.W230X) in the homozygous state is a frequent cause of CAH among the indigenous population of North Ossetia-Alania represented by Ossetians.Aims: To stud...

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...

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...

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 ...

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...

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 ...