ESPE Abstracts

Context: Severe forms of growth hormone insensitivity (GHI) are characterised by extreme short stature, dysmorphism and metabolic anomalies. They are classically caused by homozygous or compound heterozygous mutations of the growth hormone receptor gene (GHR). Genetic analysis traditionally focuses on the exonic regions of genes that encode proteins rather than the intervening non-coding sequences. These seldom explored non-coding regions may harbour ...

Introduction: The molecular aetiology of familial glucocorticoid deficiency (FGD) is very heterogeneous. A recent report of a genetic variant in TXNRD2, the gene encoding thioredoxin reductase Type 2, in a South Asian kindred with FGD suggests that the maintenance of redox balance may be critical for adrenocortical function. We present the second report of an individual from another south Asian family harbouring a different pathological variant in <em...

Congenital hyperinsulinism (CHI) is a life-threatening disease and manifests in the majority of cases in the first days after birth. Based on the distribution of affected cells, focal CHI forms are distinguished from diffuse CHI forms. Focal forms occur in most cases due to a paternally inherited heterozygous mutation in a subunit of an ATP sensitive potassium channel (ABCC8, KCNJ11). Within the diagnostic setting, focal forms can be visualized by 18F DOPA PET scan, as a marke...

Background: Specific measurement of low serum / plasma concentrations of 17β-estradiol (E2) is important in pre-pubertal and pubertal children in routine paediatric endocrinology. However, there is still a gap in available reference intervals (RIs) for E2 in paediatrics. The study was partially funded by the German Ministry of Health, grant number 2519FSB503.Objective: First, we technically developed a highly sensit...

Introduction: Hypoglycemia is the most common acute complication in T1D. It has ominous symptoms and it is potentially fatal. Parents of infants with T1D are instructed in how to avoid, detect and manage these episodes. However, it is well known that many parents develop fear of hypoglycemia (FoH) which may lead to phobic avoidance behaviors such as permanent hyperglycemia and anxiety, losing optimal metabolic control. We aimed to explore how parenting stress ...

Introduction: Recent studies point to the existence of androgen-responsive non-coding (nc) RNAs in peripheral blood mononuclear cells (PBMC) RNA.Aim: To quantify the androgen-responsive gene expression of SNORD5 and RNY5 and investigate their relationship to the testosterone (T) rise following hCG stimulation in boys with no genetic evidence of androgen insensitivity.Methods: 19 bo...

Introduction: Androgens are essential for the development of male sex characteristics. Testosterone (T) production from androstenedione (A) by the Hydroxysteroid 17-Beta Dehydrogenase 3 (HSD17B3) in gonadal Leydig cells triggers the differentiation of the Wolffian ducts into epididymis, vas deferens, seminal vesicles and the prostate. Shortly after, the virilisation of the external male genitalia starts through the conversion of T into dihydrotestosterone (DHT...

Background: Childhood onset PTC has a more aggressive presentation but no overall increase in mortality compared to adults.Objective: To characterize a pediatric cohort with PTC at diagnosis using the American Thyroid Association (ATA) Initial Risk Stratification (IRS) and to evaluate the response to initial treatment until 3 years based on the modified ATA Dynamic Risk Stratification (DRS) for adults.<p class="abste...

Background: Digital health is becoming increasingly important worldwide. However, there is a lack of research on barriers to the implementation of digital health solutions for growth disorders in the Gulf Region. Participatory research can help to understand barriers faced by different stakeholders, design effective solutions and evaluate their implementation, whilst taking cultural aspects into consideration. Involving clinicians in understanding barriers to ...

Introduction: Children with congenital adrenal hyperplasia (CAH) and adrenal insufficiency (AI) rely on lifelong hormone replacement with hydrocortisone (HC). Alkindi® is the first HC licensed for children from birth to 18 years with AI, available in small doses of 0.5, 1, 2 and 5mg required for the needs of neonates, infants and children.Objectives: Primary: long-term safety of Alkindi®; Secondary: long-term d...