ESPE Abstracts

Introduction: C-type natriuretic peptide (CNP, NPPC gene) and its receptor, natriuretic peptide receptor B (NPR-B, NPR2 gene), is critical for endochondral ossification in growth plate. Biallelic NPR2 mutations are known as acromesomelic dysplasia, type Maroteaux which is characterized by severe short stature. A monoallelic NPR2 mutation has been suggested to mildly impair long bone growth.Obje...

Background: The period of 0–6 month of life is a short window for postnatal testicular maturation and the diagnostic of reproductive disorders.Objective: To evaluate the functional condition of the hypothalamo-pitutary-gonadal axis in 1–3 months boys with cryptorchidism.Method: 51 boys ages 1–3 months with cryptorchidism were examined: group 1–30 boys with unilateral inguinal retention testes and group 2–21...

Background: Growth spurt is a major event in central precocious puberty (CPP). GnRH analogue (GnRHa) therapy inhibits gonadal axis and decreases height velocity. However, serum IGF1 and IGFBP-3 remain high as before therapy. Reports on IGF type 1 receptor (IGF1R) in CPP are yet unavailable.Aim: To study IGF1R mRNA expression in girls with CPP before and during GnRHa therapy.Methods: 34 girls with CPP were studied. Sixteen of them (...

Autosomal dominant pseudohypoparathyroidism type-Ib is characterized by renal parathyroid hormone resistance, with resultant hypocalcemia and hyperphosphatemia. This disorder is associated with an isolated loss of methylation at GNAS exon A/B and most patients carry maternal microdeletions in the neighboring STX16 gene. The shortest deletion overlap is a 1.2-kb region spanning STX16 exon 4 and thought to harbor a cis-acting element regulating GNAS A/B methylation. However, abl...

Background: The adaptative increase of serum thyrotropin (TSH) levels in obese subjects may affect the metabolic regulation of body tissues and thus promote an unfavorable cardiometabolic profile.Aim: To investigate the association between serum TSH, free thyroxine (FT4) and cardiometabolic risk factors in euthyroid obese children and adolescents.Material and Methods: Four hundred ninety-one Caucas...

Background: The short stature homeobox-containing (SHOX) gene, located in the telomeric pseudoautosomal region 1 (PAR1) on the short arm of both sex chromosomes, is important for linear growth.Objective and hypotheses: The aim of our study was to evaluate the presence of SHOX gene deletions/point mutations in children with short stature in order to understand the role of SHOX gene in idiopathic short stature (ISS) and estimate its frequency.<p class=...

Background: in our days the case of reduction of bone mineral density becomes more common. This pathology can be detected in children and adolescents with obesity with the help of densitometry.Aim: to reveal the dynamics of body composition indicators in obese children.Methods: we examined 32 children with obesity in the University Hospital (Minsk) in 2020-2022 yrs. Their anthropom...

Background: Diabetic nephropathy (DN) is a major microvascular complica-tion of type 1 diabetes mellitus (T1DM). Homocysteine levels have been found elevated in T1DM patients with DN due to several causes, including dietary deficiencies of folic acid and B Vitamins. Hyperhomocysteinemia induces renal injury and is associated with increasing urinary albumin excretion in patients with diabetes. We therefore performed a randomized-controlled trial of oral supplem...

Objective: To evaluate bone mineral density (BMD) and its relationship with vitamin D in children with obesity.Methods: We examined 110 children in the University Hospital (Minsk) from 2015 to 2018 yrs. Their anthropometric parameters (height, weight, body mass index (BMI)) were determined. Body composition with evaluating of mineral component were made by dual energy X-ray absorptiometry with the calculation of feet, hands, spine, ribs, hips BMD (g/cm<s...

Background: The degree of suppression of the pituitary-ovarian axis in girls with central precocious puberty (CPP) under GnRH analogue (GnRHa) treatment is usually assessed at pituitary levels. However, the extent of ovarian function suppression under GnRHa treatment has not been evaluated.Objective: To evaluate ovarian activity in CPP girls before and during treatment with GnRHa.Patients and methods: In this prospective study, 11 ...