ESPE Abstracts

Background: The majority of drug developments in type 1 diabetes (T1D) are aimed at preventing decline of beta cell function (BCF), as this has been associated with better glycaemic control and fewer long-term complications. Traditionally, BCF is evaluated by the C-peptide response to the labour-intensive mixed-meal-tolerance-test (MMTT), but there’s a need for a more practical alternative. We developed a new method to measure C-peptide in ‘dried blood spots’ (D...

Background: Brain MRI is an essential tool in the diagnosis of neuroendocrine disorders and aims at detecting anatomical abnormalities and tumors. However, it may lead to the identification of unrelated or questionably related abnormalities in the hypothalamic-pituitary region and/or the rest of the brain parenchyma.Objective and hypotheses: To establish the prevalence of causal lesions on brain MRI of children evaluated for hypopituitarism, assess the f...

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 ...

Introduction: Turner syndrome is a relatively common chromosomal abnormality affecting 1:2000 girls. Virilization can occur in girls with Turner syndrome which is in most cases associated with the presence of an Y chromosome. Mosaicism is found in 25% of the karyotypes, in 6% of those the Y chromosome is present. This could lead to development of androgen producing gonadoblastoma/dysgerminoma. Active screening to search for Y chromosomal material is included i...

Background: Mutations in the gene encoding the natriuretic peptide receptor-2 gene (NPR2) are responsible for monogenic growth disorders. Loss-of-function variants cause extreme short stature and skeletal dysplasia. Gain-of-function mutations cause tall stature with - in some cases - macrodactyly of the great toes, a Marfanoid habitus, arachnodactyly and scoliosis. We describe a novel gain-of-function mutation in exon 8 of NPR2 in a family wi...

Background: Central diabetes insipidus (CDI) is caused by deficiency of antidiuretic hormone (ADH). Patients with CDI are at risk for fluid balance disturbances, especially when there is impaired thirst perception or inability to access water freely. Serum sodium measurement gives a good reflection of the actual fluid balance but is generally not available in the home situation. For patients in which CDI is difficult to manage sodium measurement at home may be a good instrumen...

Background: Congenital Adrenal Hyperplasia (CAH) is a rare group of congenital adrenal diseases with an estimated prevalence of about ten newly diagnosed patients in the Netherlands per year. Morbidity and mortality improved significantly in the last 20 years mainly due to improvement of multidisciplinary care and education of patients and parents. In the last years the role of the nurse practitioner (NP) as case manager in the care and follow up of patients with chronic disea...