ESPE Abstracts

Background: Patients with congenital adrenal hyperplasia (CAH) are treated with life-long glucocorticoid (GC) replacement therapy. Negative effects on cognition, brain structure and function during working memory tasks have been identified. To date, no studies on functional connectivity during rest have been performed in patients with CAH. One study conducted on patients with Cushing’s syndrome, another disorder of cortisol imbalance, suggests that long-t...

Title: The making of the EndoWatch: A new device for Early Monitoring of Hypothalamic imbalances. Hulsmann S, Petras S, Fraboulet P, Yuan Lu, van Santen HM (on behalf of the EndoWatch team) Keywords: Paediatric and adolescent cancer survivors, Brain tumour, Quality of Life, Wearable, Hypothalamic Obesity Main goals: Aim for better quality of lifeIntroduction: Children and adults with a suprasellar (hypothalamic)...

Background: Growth hormone therapy can be indicated for children who are born small for gestation age (SGA) (either birth weight or birth height < -2 SDS) without catch-up growth (height < -2.5 SDS) at age 4 years. Growth hormone therapy is considered a safe treatment.Case presentation: A 12-year-old girl was referred to the pediatric endocrinologist for short stature. She was born small for gestational age (birth ...

Background: In diabetic athletes, glycogen depletion can contribute to the early development of starvation ketones as is demonstrated by our patient.Case presentation: Our patient, a 15-year-old male triathlete with type 1 diabetes for 5 years was referred to our tertiary center because of suboptimal regulation on continuous subcutaneous insulin infusion (CSII). He frequently awoke with nausea and ketosis, which was initially attributed to failure of ins...

Pediatric severe obesity is a major threat to health and longevity. Around 7% of children worldwide have early onset severe obesity before the age of 7. Pediatric obesity is caused by an interplay of multiple factors: lifestyle, environmental, sociocultural, psychological, biological and genetic factors. Endocrine, monogenetic or syndromal causes are rare, but currently underdiagnosed and important to identify for the need of specific treatment. Cardiovascular risk factors and...

The aim of this presentation is to give an overview of motor disabilities in girls with Turner syndrome (TS), the impact on daily life and suggestions for treatment.Girls with TS show substantially lower performance in gross and fine motor function tests and motor milestones are achieved relatively late. Moreover, girls with TS frequently encounter problems in specific motor functioning i.e. oral-motor and visual-motor coordination, motor learning and pr...

Background: TARTs mostly occur in congenital adrenal hyperplasia due to 21-hydroxylase deficiency, but were described in other forms of CAH. Elevated ACTH levels, may play a role in TARTs development. Here we describe the first child with undetected CYP11A1 deficiency who presented with TART.Case description: An 11 year old boy noticed left sided scrotal enlargement, without further complaints. Ultrasound showed a hydroc...

Background: Underlying causes of obesity are thought to be rare even in specialized paediatric endocrinology clinics. However, evidence is limited. The Endocrine Society (ES) guideline for paediatric obesity makes the following diagnostic recommendations: endocrine evaluation in presence of reduced growth velocity, evaluation of cerebral obesity in presence of CNS injury, re-evaluation of drug choice in patients using antipsychotics. Genetic testing is recomme...

Congenital adrenal hyperplasia (CAH) is a group of rare congenital disorders of the adrenal cortex due to a defect in one of the enzymes involved in steroid synthesis leading to cortisol deficiency and overproduction of adrenal androgens. In the most severe forms CAH is a life threatening disease due to the risk of Addisonian and salt wasting crisis. In the last 50 years diagnostics and treatment improved significantly. Patients are treated with lifelong replacement of glucoco...

Background: Prader–Willi syndrome (PWS) is caused by absence of expression of imprinted genes on the paternal chromosome 15 (15q11.2–q13) due to a paternal deletion, maternal uniparental disomy 15 and rarely an imprinting defect. The clinical signs of PWS are hypotonia, muscle weakness, excessive eating, morbid obesity, delayed global development, hypogonadism, and short stature. Marfan syndrome is caused by mutations in the FBN1 gene, located on chromosome ...