ESPE Abstracts

Background: Brain-lung-thyroid syndrome (BLTS, OMIM# 610978) is caused by mutations in the NK2 homeobox 2 (NKX2-1; TTF1) gene affecting the three NKX2-1 expressing organs brain, lung and thyroid. The syndrome is characterized by benign hereditary chorea (BHC), infant respiratory distress syndrome (IRDS) and congenital hypothyroidism (CH). However, the clinical spectrum and severity of symptoms vary widely. Regarding the increasing number of published mutations and het...

Background:Short stature may be due to various pathological conditions or may be idiopathic. SHOX (Short Stature Homeobox on X chromosome) gene is involved in the regulation of skeletal growth and is a main cause of short stature on monogenic basis. The frequency of this condition in children with idiopathic short stature (ISS) was reported to range from 2 to 17%. The phenotypic spectrum is heterogeneous, varying from Léri-Weill dyschondrosteosis (LWD) ...

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: Normal function of the thyroid gland is essential for adequate neurological development of the fetus and child. In previous studies, associations between reduced birth weight and overt maternal and fetal thyroid dysfunction have been described. We hypothesize that also variations within the normal range of fetal thyroid function have an impact on fetal and neonatal growth.Objective: The aim of this study is to investigate whether thyroid horm...

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: CYP27B1 converts 25-hydroxyvitamin D3 to active 1,25-dihydroxyvitamin D3, playing a vital role in calcium homeostasis and bone growth. Vitamin D-dependent rickets type 1 (VDDR-1) is a rare autosomal recessive disorder caused by mutations in CYP27B1.Objective and hypotheses: Enzymatic and structural analysis of mutations in a patient with calcipenic rickets.Method: Two siblings presented with calcip...

Background: Knowing the changes of cardiovascular risk factors (CRF) in relation to weight loss would be helpful to advise overweight children and their parents and to decide whether drugs should be prescribed in addition to lifestyle intervention.Objective and hypotheses: The aim of the study was to determine the degree of overweight reduction to improve CRFs in overweight children.Method: We studied changes of blood pressure (BP)...

Background: Disorders (or differences) of sex development (DSD) are rare congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical. The luteinizing hormone/chorionic gonadotropin receptor (LHCGR) is important for male sex development. LHCGR mutations can cause Leydig cell hypoplasia, which is an autosomal recessive disorder.Objective and hypotheses: We found two heterozygous mutations in the LHCGR, a n...