ESPE Abstracts

Introduction: An optimized replacement regimen with glucocorticoids and mineralocorticoids in subjects with congenital adrenal hyperplasia (CAH) aims at preventing life-threatening salt wasting and adrenal crises, virilization and pubertal precocity, and at enabling normal linear growth.Aims: We investigated puberty and its impact on final height in children and adolescents with CAH.Patients and Methods: In a cohort of post-pubesce...

Background: T1DM may influence growth and pubertal development and vice versa. Delayed pubertal development and reduced final height are known to be associated with inadequate metabolic control. Many factors including insulin resistance during puberty and insufficient adherence may be responsible for increasing HbA1c.Objective: Is pubertal growth spurt associated with an increase of HbA1c? Are there gender differences in metabolic control during...

Background: In 2017 the American Academy of Pediatrics has introduced a new guideline (AAP 2017) to diagnose arterial hypertension in children, as the blood pressure thresholds for adults had been lowered before. There is a controversy about these new reference levels as other societies have not followed these recommendations. We studied the impact of the new AAP 2017 guideline on prevalence of arterial hypertension (HTN) in children with Type 1 diabetes melli...

The transient activation of the hypothalamus-pituitary-gonadal (HPG) axis shortly after birth has been described as early as in the 70ies. This discovery has since been applied clinically as a ‘window of opportunity’ for diagnostic evaluation of patients suspected of endocrine disorders and differences of sex development. With the advent of increasingly more sensitive and specific analytical methods for peptide and steroid hormones produced in the pituitary, gonads...

Background: Research has demonstrated that technologies to support diabetes self-management for people living with diabetes can have positive effects on medical and quality of life outcomes. It also shows that there may be an additional burden of wearing and using these technologies. Both diabetes and its treatment can have significant deleterious effect on quality of life, thus it is crucial that the interaction between the technology and the user offers maximum benefit with ...

Background: Undescended testes in patients with defective mini-puberty contain germ cells that fail to differentiate normally into Ad spermatogonia and ultimately leads to infertility. Six months treatment with the gonadotropin-releasing hormone GnRH increases luteinizing hormone and testosterone secretion and rescues fertility in the majority of pathological cryptorchid testes. Several Y chromosomal genes in the male-specific Y region (MSY) are essential for spermatogenesis, ...

Background: Onset of diabetes in the neonatal period with additional malformations e.g. congenital heart defects should always be suspicious for an underlying genetic disorder. For example, GATA6-mutations were identified in children with congenital heart defects and neonatal diabetes. The latter may be due to pancreas agenesis. Herein we present a novel GATA6-mutation in a boy with transient neonatal diabetes, diaphragmatic hernia, congenital heart defect and early onset scol...

Background: Anti-Müllerian hormone (AMH) is produced by small growing ovarian follicles. It inhibits both FSH induced maturation of follicles as well as aromatase activity. Genetic variation of AMH signalling is associated with age at menopause and circulating oestradiol levels, i.e. AMH rs10407022 T>G (intragenic) and AMHR2 rs11170547 C>T (putative enhancer).Objective and hypotheses: This present study aims to investigate ...

Background: Significant changes in metabolism and water equilibrium are registered during pregnancy. However, very limited previous investigations have been carried out on variations of exposure levels and metabolism of non-persistent environmental chemicals during pregnancy.Objective and hypotheses: The objective of this longitudinal study is to describe variation in exposure of pregnant women to environmental chemicals. We hypothesise that variation in...

Objectives: We designed a longitudinal study to investigate the association between central pubertal activation with age at the appearance of clinical signs of puberty. We, therefore, assessed nocturnal gonadotropin secretion which can be detected in the form of total luteinizing hormone (LH) immunoreactivity in the daytime- and sleeptime-excreted urine.Methods: Thirty healthy volunteers (17 boys and 13 girls, aged 3.4&n...