ESPE Abstracts

The changes of the immune reactivity, the production of hormones and the neuroendocrinal regulation of immune homeostasis are the entities closely connected with the puberty. There is evidence for the role of cytokines in securing of intersystemic interaction as well as for the influence of reproductive hormones on the cytokine production. However, the question as to the role of cytokine in the formation of delayed puberty continues to be relevant.<stron...

Mutations in the GH1 gene cause isolated growth hormone deficiency (IGHD) by affecting production, secretion, and stability of growth hormone as well as its binding to GHR. A smaller isoform of GH1 is inactive and is linked to IGHD. While studying the impact of small GH isoform, we noticed that cells with the short 17.5 kD version of GH looked different from the control cells. We found that the production of short GH isoform distorts the cell morphology, contributing to detrim...

Objective: Continuous subcutaneous insulin therapy (CSII) and therapy with insulin analogues are considered to provide physiological insulin replacement, which results in improvement of diabetes control. Rate metabolic compensation of diabetes mellitus (DM) in children on IPT and basal-bolus insulin therapy on the level HbA1c and self-control of glycemia.Methods: We analyzed retrospectively 88 histories of disease children with type 1 DM. The patients we...

As of 2022, the Ukraine Pediatric Diabetes Register (UPDR) contained children aged <18 years with DM1- 11014 (1 in 677), with DM2 – 51 (1 in 146274), with neonatal diabetes (ND) – 69 (1 in 108115), and 59 cases (1 in 126440) with MODY. Most studies focus on such parameters as HbA1c, acute complications and quality of life, whereas investigations of the frequency of chronic DM1 complications and glycemic control for internally displaced persons (IDP) have not bee...

Background: Growth hormone deficiency in conjunction with the function loss of other anterior pituitary hormones is called combined pituitary hormone deficiency (CPHD). The most common congenital CPHD is caused by mutations in genes: PROP1, POU1F1, HESX1, LHX3, LHX4, OTX2, GLI2, and SOX3. POU1F1 mutations are extremely rare among the Indo-European ethnic type (1% of all cases of congenital hypopituitarism) and more common among the Turkic peoples (7.3%...

Cytochrome P450 oxidoreductase (POR) is the obligatory redox partner of steroid and drug-metabolizing cytochrome P450s located in the endoplasmic reticulum. Mutations in POR cause a broad range of disorders like congenital adrenal hyperplasia that may resemble bone malformations resembling Antley-Bixler syndrome. Genome sequencing studies have revealed the existence of a POR missense variant P228. We aimed to determine the detailed functional impact of POR variant P228L for it...

Background: A broad spectrum of human diseases, including abnormalities in steroidogenesis, are caused by mutations in the NADPH cytochrome P450 oxidoreductase (POR) (1-2). Cytochrome P450 proteins perform several reactions, including metabolism of steroids, drugs and other xenobiotics. Therefore, genetic variations in POR can impact many different metabolic pathways by changing the activities of cytochromes P450 (1). In 2004 the first human patients with defe...

Dominant activating mutations in GCK gene are known to be the cause of congenital hyperinsulinism (CHI). Patients with GCK mutations can have a wide range of clinical presentations, varying from asymptomatic adult onset hypoglycemia to medically unresponsive severe neonatal onset HI. Overall, 5 of 214 (2.3%) patients diagnosed with HI over the last 10 years in Russia were found to carry pathogenic variants of GCK gene. Only 2 of these 5 patients ...

Abstract: The development of endocrine disorders after complex treatment of medulloblastoma is out of doubt. Much less attention is paid to the study of metabolic changes in the outcome of treatment. In our clinic, we examined 63 patients (40 males/23 females) after the complex therapy of medulloblastoma (surgery, craniospinal radiation therapy and chemotherapy). Patients had a median age (range) of 11.3 (5.5÷17.9) years. They were treated for medulloblas...

Background: Steroidogenic factor 1 (encoded by the NR5A1gene) is a transcriptional regulator of genes involved in gonadal development and steroidogenesis. Mutations in NR5A1 have been identified among the most frequently genetic causes of disorders of sex development (DSD).Objective: To report the phenotype of 31 patients associated with 17 novel and 9 previously described NR5A1 sequence varian...