ESPE Abstracts

Introduction: Alstrom syndrome is an autosomal recessive genetic disorder with mutation in the ALMS 2p12-13 gene and its characteristic features are: pigmented retinopathy, deafness, growth deficiency, obesity, metabolic syndrome, diabetes, thyroid dysfunction, nephropathy and cardiomyopathy.Aim of the study: Evaluation of anthropometric parameters, thyroid function, carbohydrate metabolism and lipid profile in five patients with diagnosed Alstrom syndro...

Background: Heterozygous familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder occuring in 1:500 people. Patients with FH have a high risk of premature cardiovascular diseases. Today effective lipid-lowering therapies are available and it is a chance to extend the life of patients.Aims and objectives: The aim was to analyse the clinical data of children with FH from the Clinic of Pediatrics, Diabetology and Endocrinology and prelim...

Introduction: Gestational diabetes is one of the most common medical disorders and may cause numerous maternal and fetal complications. It constitutes one of the most frequent pregnancy health problems and may cause wide range of complications such as: preterm births, congenital defects, sacral agenesis, hypertrophic cardiomyopathy, metabolic changes and macrosomia in neonates. Therefore, early detection and implementation of guideline-based screening tests, are crucial. One o...

Background: The GATA family of zinc finger transcription factors including GATA4 and GATA6 are known to play an important role in the development of the pancreas.Aim: The aim of this case-report study is to present a patient with GATA6 mutation treated in Clinic of Pediatric, Diabetology and Endocrinology, Medical University of Gdansk.Case report: Child was born prematurely in 36th week of pregnancy with birth weight of 1520 g, wit...

Since CGM-based outcomes that are increasingly being used in clinical pediatric diabetes research, this study was aimed at gathering normative sensor data in healthy, non-diabetic children using the recently approved DexCom G6 system. In this multicenter study, healthy, non-diabetic children and adolescents (age 7 to <18 years, BMI between 5th and 85th percentile, and HbA1c <5.7%) were included. Each participant wore a blinded DexCom G6 for approx. 10 days and kept a d...

Background and Aim: Pediatric patients with germline mutations in the tumor suppressor gene PTEN (PTEN hamartoma tumor syndrome, PHTS) frequently develop lipomas. PTEN antagonizes phosphoinositide 3-kinase (PI3K) signaling, which can induce adipogenesis upon activation through insulin. The PI3K downstream target AKT can deactivate FOXO1 via phosphorylation, initiating the expression of the lipogenesis activating transcription factor SREBP1. To study t...

Background: The estimated estradiol (E2) dose required for pubertal induction in hypogonadal girls is about 1/10 of the adult dose. Previous studies have shown that it is possible to provide an individualized and physiological dose for pubertal induction by cutting the patch into smaller pieces. However, the manufacturers do not guarantee stability or utility of cut E2 patches, primarily designed for postmenopausal women, and have no interest in that eval...

Obese children are at risk for increased DHEAS production, which is assumed to arise from hyperinsulinemia, hyperleptinemia, increased IGF-1 production or chronic low grade inflammation. Exaggerated adrenarche is suspected to be a forerunner of polycystic ovary syndrome in girls, but its consequences in obese boys are less well studied. In this study we evaluated the presence of exaggerated adrenarche in a cohort of obese boys and girls and investigated whether obese children ...

Introduction: Congenital adrenal hyperplasia (CAH) is the underlying diagnosis in most newborns presenting with 46,XX disorders of sex development (DSD). Cytochrome P450 oxidoreductase deficiency (PORD) is a rare form of CAH caused by inactivating mutations in the POR gene. POR is a crucial electron donor to all microsomal type 2 P450 cytochromes (CYPs), including 21-hydroxylase (CYP21A2) and 17alpha-hydroxylase (CYP17A1). The hallmark feature of PORD is combined sex-steroid a...

Many women with polycystic ovary syndrome (PCOS) have a delayed diagnosis after seeing multiple health care providers for their symptoms impacting on their physical and emotional well-being (1). In adolescent girls, PCOS diagnosis is even more controversial and challenging than in adult women yet there have been no studies in adolescents evaluating diagnostic experience, their knowledge and concerns. We aimed to evaluate diagnostic experience and concerns regarding PCOS in an ...