ESPE Abstracts

Resistance to thyroid hormone due to mutations inactivating thyroid hormone receptor-Beta occurs in one in 40,000 individuals and can arise de novo or be inherited, generally in a dominant fashion. Clinical manifestations are widely variable and include failure to thrive in infancy. The biochemical diagnosis is usually straightforward: high serum fT4 and non-suppressed TSH.We report two brothers who both inherited the known c.728G>A, p.R24...

Background: Neonatal cortisol assessment is indicated in suspected adrenal insufficiency. Clinical presentation includes: low blood glucose, low blood pressure, ambiguous genitalia, electrolyte abnormalities, midline abnormalities.Aims: Review the trends, outcomes and associations of cortisol assessment in neonates within our Trust between 2012-2018.Objectives: Review:<p class=...

Background: Inter-individual differences in the metabolism of cortisol have been postulated to emerge during puberty, and might be explained by a complex interplay of genetic and environmental factors. The aim of the current study was to estimate the relative contributions of genetic, shared environmental, and unshared environmental factors on cortisol metabolism in a longitudinal twin cohort assessed at pre-pubertal, mid-pubertal and post-pubertal ages....

Introduction: Adrenocortical tumors are very rare in children, with a prevalence of just 0.3 cases/million/year. Autonomic hormone production by adrenal cortical tumors may cause peripheral precocious puberty.Case report: A 4-year-old boy was presented by his parents because of pubertal behavior with aggressive features and a significant increase in the size of the penis. The parents also noticed a strong growth spurt and sweat odor. The boy had a good g...

Background: Persistent severe insulin resistance (IR) in T1DM is infrequent, complex to handle and disabling. Genetic and epigenetic factors play a significant role in the pathophysiology of IR. This case report discusses the potential role of habitual and stress-inducing environmental factors in a school-aged boy with a neurodevelopmental disorder.Case report: We present an eight year old boy with a three year history of T1DM (GAD positive) regulated by...

Background: Being born small for gestational age (SGA) has a negative effect on health-related quality of life (HRQoL) and self-perception. This might be more negatively influenced by postponement of puberty using additional gonadotropin-releasing hormone analogue (GnRHa) treatment.Methods: 154 adolescents born SGA participating in a large Dutch growth hormone (GH) trial (75 with 2 years of GnRHa-treatment) completed the TNO-AZL Adults Quality of Life qu...

Background: GH treatment results in a decrease in fat mass (FM) and insulin sensitivity (Si), and an increase in lean body mass (LBM). Only limited data are available on the longitudinal changes after discontinuation of GH treatment in SGA adults, aged 21 years.Objective and hypotheses: To assess longitudinal changes in body composition (BC) and glucose homeostasis after stop of GH treatment in SGA adults.Method: 197 previously GH-...

Background: Differences in hypothalamus–pituitary–adrenal (HPA-)axis functioning have been proposed to underlie gender-specific cardiovascular and neurocognitive disease susceptibility.Objective and hypotheses: We conducted a systematic review and meta-analysis to test the hypothesis that gender-specific differences in HPA-axis activity are already present in childhood.Method: We searched two electronic databases (PubMed ...

Background: Polycystic ovarian syndrome (PCOS) diagnosis includes ovarian morphology using transvaginal ultrasound (US). However transvaginal US cannot be used in virginal girls and transabdominal US is not optimal particularly in obese patients.Objective and hypotheses: To evaluate the validity and reproducibility of ovarian morphology measures using MRI for the diagnosis of PCOS in adolescents.Method: This case-control study (200...

Background: Birth weight (BW) is often used as a proxy for gestational age (GA) by studies on preterm birth. Recent data indicate that the terms very-low-birth-weight (VLBW; BW <1500 g) and very preterm (VP; GA <32 weeks) birth are not equivalent with regard to perinatal outcomes and postnatal growth up until final height. It is unknown whether the differences between these terms could be extended to long-term neurodevelopmental outcomes.Objectiv...