ESPE Abstracts

Keywords: Congenital Adrenal Hyperplasia, Parent’s experience, Focus Group DiscussionBackground: Congenital Adrenal Hyperplasia (CAH) leads to many unseen social burdens for parents, including ambiguous genitalia (in girls), lifelong use of medication, including stress dosing, social and psychological pressure, and stigmatization. This study aimed to investigate various lived experiences of parents caring for their...

Background: Hypothalamic-pituitary (HP) deficiencies are frequent in childhood brain tumor survivors (CBTS) after cranial radiation. There is currently no consensus on the most optimal way to screen for HP dysfunction regarding diagnostic tests or time interval. It is not known whether MRI changes in time in the HP-region or in brain volume are predictive of HP dysfunction.Aim: To quantify changes in the HP-region and in brain volume on MRI in CBTS after...

Background: A national database has been developed to register longitudinal data from all CAH children detected through neonatal screening from 2002 onwards. So far, data from 105 children have been registered (65% of Dutch CAH patients) to evaluate treatment and long-term effects in CAH.Aims: To evaluate height and weight in relation to medication used in the first 2 years of life.Methods: Biometric data and medication dosage were...

Background: Long-term outcome studies on bilateral testicular regression (BTR) are currently lacking, hampering counseling of patients and parents. Although a vascular origin was initially reported, recent studies revealed a genetic origin in a subset of patients (i.e. DHX37 gene variants). How this relates to patient outcomes remains unclear.Methods: Thirty-five patients with BTR were recruited in eight Belgian centers ...

Background: The hypothalamus-pituitary-adrenal (HPA) axis displays a diurnal rhythm, peaking in the morning and with a nadir at night. However, not much is known about the development of the HPA- axis, although strikingly some evidence suggests that a rhythm with a peak in the afternoon is already present antenatally. We aimed to describe HPA-axis activity at age 1 month as well as study possible influencing factors.Methods</stro...

Background: Boys affected with Duchenne Muscular Dystrophy (DMD) have lower bone mineral density compared with unaffected boys.Objective and hypotheses: We sought to determine the effects on bone mineral density (BMD) of 1 year treatment with Risedronate and calcium/vitamin D supplementation vs calcium/vitamin D supplementation alone.Method: BMD was measured at spine and whole body. We obtained early morning fasting blood samples f...

Background: The androgen receptor (AR) is essential for the development of primary and secondary male characteristics and is activated by its ligand dihydrotestosterone (DHT). Reduced AR activity can cause undervirilization and infertility. We recently developed an assay to test AR function as a ligand-dependent transcriptional activator in human genital skin fibroblasts (GF). So far it is unclear, if AR expression levels correlate with AR function in the male external genital...

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...

Background: Biochemical ratios of precursor-to-product urinary steroid metabolites have been proposed as surrogate markers of steroidogenic enzyme activity to aid the differential diagnosis of inborn disorders of steroidogenesis. Using ratios rather than total amounts facilitates analysis of single spot urine samples, more convenient than 24-h urine collections for young children. Previous studies examining the utility of these biochemical ratios have been lim...

Background: Isolated aldosterone synthase deficiency is a rare autosomal recessive disorder caused by pathogenic variants in CYP11B2. To date, more than forty different pathogenic variants in the CYP11B2 gene causing isolated aldosterone synthase deficiency have been identified. We report on a novel pathogenic CYP11B2 variant.Case report: The second child (male) of consanguineous, healthy parents, presented shortly after...