ESPE Abstracts

Background: Premature thelarche and precocious puberty are frequently diagnosed even in girls below 6 years of age. A GnRH test is often included in the diagnostic work up. Interpretation of the GnRH test in girls below 6 years of age is, however, difficult, because the reference interval has not been established in this age group.Objective and hypotheses: To establish the normal endocrine response to a GnRH test in healthy girls below 6 years of age.</p...

Background: X-Linked Adrenoleucodystrophy (X-ALD) is a rare neurodegenerative disorder characterised by impaired peroxisomal beta-oxidation of very long chain fatty acids (VLCFA; ≧C22) which is reduced to about 30% of control levels. Consequently, there is an accumulation of VLCFA in plasma and tissues, including the white matter of the brain, the spinal cord and adrenal cortex. It is caused by mutation in the ABCD1 gene encoding a peroxisomal transmembrane protein (ALD...

Background: 80–95% of congenital adrenal hyperplasia (CAH) cases are due to mutations in the CYP21A2 gene encoding 21 hydroxylase. The residual activity of the gene defines the clinical form. Routine mutational screening of CYP21A2 defects is shown to effectively support the complex diagnostic and treatment procedure of newborns with CAH.Objective: We aimed to characterise the phenotype of a girl with compound heterozygosity of ...

Objective: Recent experimental data suggest that circulating serotonin interacts with bone metabolism, although this is less clear in humans. This study investigated whether serum serotonin interferes with bone metabolism in young women with anorexia nervosa (AN), a clinical model of energy deprivation.Methods: Serum serotonin, markers of bone turnover (osteocalcin (OC), procollagen type 1 N-terminal propeptide (PINP), type 1-C telopeptide breakdown prod...

Introduction: Mitotane is an adrenal-specific agent available for treatment of residual adrenocortical carcinoma (ACC) after surgery, due to a specific, direct effect on adrenal cell mitochondria impairing adrenal steroidogenesis being associated with increased SHBG and modulates their disposal for target cell. We report a rare case of uterine bleeding during mitotane treatment in a girl with recurrent ACC.Case report: A 2.6 year-old girl was diagnosed w...

Background: Elevated concentrations of interleukin 1 – receptor antagonist (IL-1Ra) have been found in adult subjects with the metabolic syndrome and type 2 diabetes as a marker of inflammation.Objective and hypotheses: Our aim was to study whether serum IL-1Ra associates with markers of reduced insulin sensitivity (IS) and dyslipidemia in 12-year-old children.Method: A total of 192 children (109 girls) were studied at the mea...

Background: The IGF system is involved in the development of metabolic and cardiovascular disease. This study aimed to investigate the association of insulin-like growth factor-1 (IGF1), IGF-binding protein-1 (IGFBP1) and IGFBP3 with insulin resistance and type 2 diabetes in children.Methods: We included 36 children aged 10 to 16 years without known diabetes, medication, chronic disease. They were classified into three groups according to the results of ...

Background: Neonatal hyperinsulinaemic hypoglycaemia (HH) has recently been recognized as a consequence of mutations in HNF1A, which also cause maturity-onset diabetes of the young (MODY) later in life.Aims: To report phenotypic and genetic investigations of two patients with functional characterisation of identified mutations in HNF1A.Case reports: Two unrelated patients presented with HH requiring i.v. glucose a...

Background: Obesity or excess weight gain in pregnancy period cause increased insulin secretion even if glucose screening test is normal. The growth promoting effect of insulin may release somatotropic hormones, such as IGF1,2 and its binding proteins are involved in the regulation of foetal growth.Objective and hypotheses: In this study, we determined the changes of intrauterine growth factors (IGF1,2, and IGFBP3) in pregnants gained over weight during ...

Embryos initially form undifferentiated gonads, reproductive tracts and external genitalia that will progressively acquire female or male characteristics. This fate decision is initiated in the undifferentiated gonads and depends on sex chromosomes and fine-tuned expression of complex networks of molecular pathways. Defects at different levels of this cascade of events can trigger a large spectrum of Disorders of sex development (DSDs), defined as “congenital conditions w...