ESPE Abstracts

Background: Dyshormonogenic hypothyroidism is classically a monogenic disease with recessive inheritance. Thyroid dysgenesis showed a multigenic origin in a mouse model of double-heterozygous deletions of Nkx2.1/Pax8 transcription factor genes, suggesting a possible polygenic nature of certain cases of human hypothyroidism.Objective and Hypotheses: To investigate genetic traits of polygenic involvement in dyshormonogenic hypothyroidism,...

Background: Lipid profiles of type 1 diabetic children are influenced by age, sex, BMI- and HbA1c-values. There is a discrepancy between increased cholesterol levels and the management required. Thus, 26% of patients have dyslipidemia but only 0.4% of them receive lipid lowering medication.Objective and hypothesis: To facilitate child-specific and diabetes-related cholesterol control, we developed a monitoring algorithm derived from population-based refe...

Background: The bone mass deficit in pediatric Crohn’s disease (CD) is associated with low total body lean mass and suppression of bone turnover.Objective and hypotheses: We examined at diagnosis whether the sarcopenia is associated with leg muscle hypofunction, changes in tibia muscle–bone indices as well as overt bone strength loss (vertebral fractures, VF).Method: 70% children with CD were studied within 2 weeks of dia...

Background: Exposure to non-persistent pesticides may have an effect on prenatal growth and later risk of adiposity. Prenatal pesticide exposure has been found to be associated with lower birth weight and higher body fat percentage calculated from skinfolds at age 6–11 years. Body composition measured by using DXA in children prenatally exposed to pesticides has not previously been reported.Objective and hypotheses: To study the effects of prenatal ...

Background: Septo-optic dysplasia (SOD) is a highly heterogeneous condition with a variable phenotype, defined as two or more features of the classical triad: i) optic nerve hypoplasia, ii) midline brain defects, and iii) pituitary hormone abnormalities.Objective and hypotheses: To describe the clinical, endocrine, and neuroimaging features in eight children with SOD.Method: Eight (six males) consecutive patients, diagnosed with SO...

Background: Isolated Growth Hormone Deficiency (IGHD) is usually associated with a delayed bone age. A genetic cause for IGHD is more frequently found in patients with familial cases and/or consanguineous parents.Objective and hypotheses: To diagnose the genetic cause of IGHD and clarify the unusual clinical presentation of advanced bone age in one patient born to consanguineous parents.Method: Sanger sequencing of GH1, <e...

Background: Non-high-density lipoprotein cholesterol (non-HDL-C) has been shown to be a suitable predictor of cardiovascular risk.Objective and hypotheses: We aimed to investigate factors influencing non-HDL-C levels in children with type 1diabetes (T1D, registered at the German/Austrian DPV database, n=26358) in order to increase the rare use of lipid-lowering therapies. Recommendations for acceptable (<120 mg/dl), borderline-high (120&#150...

Background: The 5α-reductase-2 (5R2) deficiency is a rare 46, XY disorder of sex differentiation caused by mutations in the 5R2 gene. Diagnostic and clinical management is not well definite.Aims and objectives: To describe relevant features of 5R2 deficiency in a large sample.Methods: Retrospective records of persons with 5R2 deficiency were reviewed and clinical, endocrinological, genetic data analysed....

Background: Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a rare autosomal recessive condition characterized by cortisol deficiency and elevated ACTH secretion, resulting in excess androgen production. This exposure to excess androgens contributes to advanced skeletal maturation and reduced growth in puberty. Data from the I-CAH registry were analyzed to identify growth-related characteristics of children and adolescents with...

Differences of sex development (DSD) occurs when the development of chromosomal sex, gonadal or internal/external genitalia is atypical. It has an incidence of 1: 1000-4500 live born children. New chromosomal array technologies (SNP-array) can analyze the genome of the individual providing information of copy number variation (CNV) of specific chromosomal regions helping to identified pathogenic variants that could explain the etiology of the DSD. This study aims to analyze th...