ESPE Abstracts

Short stature is diagnosed when height is significantly below the average of the general population for that person’s age and sex. To elucidate the factors that modify disease severity/penetrance in short stature, we have studied a three-generation family with SHOX deficiency. We have found that the retinoic acid degrading enzyme CYP26C1 is a modifier for SHOX deficiency phenotypes towards the more severe clinical manifestations (Leri-Weill dyschondrosteosis) and confirme...

Background: Non-alcoholic fatty liver disease (NAFLD) represents one of the most common obesity complications and can progress to non-alcoholic stetohepatitis (NASH). NASH is associated with lower insulin like growth factor I (IGF-1) and IGFBP-3, however no data are available regarding the growth hormone (GH)-IGF-I axis in early stage of NAFLD, characterised by hepatic steatosis.Objective and hypotheses: We aimed to investigate the GH-IGF-1 pathway in a ...

Background: Adolescence is often a period of worse metabolic control and less wellbeing in diabetic children. We studied global (GW) and diabetic-related (DRW) wellbeing in diabetic adolescents and the influence of sex, age, ethnic origin, family composition (single- or two-parent family), family income and metabolic control.Method: 133 (71 girls, 120 autochthonous, 20 treated with CSII, 107 from a two-parent family, 68 from families with a monthly incom...

Background: Pancreas aplasia (PA) and neonatal diabetes mellitus (NDM) syndrome is a rare disease that usually presents in the 1st months of life.Objective and hypotheses: We aimed to characterize molecular genetic defects in a cohort of six NDM/PA patients with up-to-date unknown pathogenesis with optimum genetic testing.Method: As part of our ESPE-RU-project ‘Understanding the molecular basis of diabetes mellitus associated ...

Background and Objectives: Early life might be a critical window for adiposity programming later in life. Metabolic profile in early life may reflect this programming and correlate with later life adiposity. We investigated if metabolic profile at 3 months of age is predictive for body composition at age 2 years and if there are differences between boys and girls and between infant feeding types.Methods: In 318 healthy t...

Background: The condition when a person’s gender identity does not match the gender assigned at birth is called gender incongruence (GI). GI numbers increased tremendously over the last decade. Diabetes mellitus – type 1 and type 2 – is a severe and lifelong disease. GI combined with diabetes may potentiate the burden for affected people.Objective: The study aimed to characterize people with GI and diab...

Introduction: Pubertal onset is signaled by thelarche (in girls) and gonadarche (in boys) and indicates the beginning of the hypothalamic-pituitary-gonadal axis activity. Thus, the onset of pubic hair development usually coincides with adrenarche. Girls worldwide are experiencing earlier puberty, but it is uncertain if this trend affects boys, or if it applies to children with type 1 diabetes (T1D).Aim: The aim of this s...

Background: GNAS (Guanine Nucleotide-Binding Protein, Alpha Stimulating) is an imprinted gene that encodes the alpha subunit of the stimulatory G protein (Gsa), which mediates the signaling of various G protein-coupled receptors. Inactivating genetic and epigenetic changes in GNAS, leading to Gsa deficiency, are associated with different subtypes of pseudohypoparathyroidism, which may include severe, early-onset obesity ...

Congenital adrenal hyperplasia is an autosomal recessive inborn error of metabolism due to impaired activity of one enzyme required for cortisol biosynthesis. Steroid 21-hydroxylase (21OH) deficiency is the cause in more than 90% of the patients. The 21OH is encoded by the CYP21A2 gene located on the chromosome 6 in the region known as the RCCX module. Due to the high homology and tandem-repeat organization of the RCCX module, this region of the genome is subjected to...

Neonatal Diabetes mellitus (NDM) is a rare genetic disease. In this report, we presented a case of NDM due to mutation in GCK gene. A male baby born to a non-consanguineous parent at 42 weeks of gestation with a birth weight of 3.2 kg. The mother was diagnosed with gestational diabetes; no special treatment was given. The first episode of hyperglycemia was registered at the age of 13 days at hospitalization due to bronchitis /blood glucose -6.2⁓7.9 mmol/l. Due to mild h...