ESPE Abstracts

Background: Ectopic ACTH syndrome is very rarely seen in infancy, usually occurring in older children.Case presentation: A female infant was born by Caesarean section (BW 4280 g) with congenital anal atresia and a large tumour surrounding the cross-tail region. CT imaging identified a heterogeneous pelvic mass (76×49×38 mm) below the sacrum. On day 1 of life, a sigmoid colostomy was established and at age 1 week, part of the tumour with the coc...

Background: Acromegaly is a rare childhood disorder. The use of a growth hormone (GH) receptor antagonist, pegvisomant, has shown great results in adults with acromegaly. We describe results of pegvisomant therapy in two girls with invasive GH pituitary macroadenomas.Case presentation: Case 1: A somatotroph pituitary macroadenoma was diagnosed in a 8-year-old girl with progressive tall stature (height: 148 cm, >+3 S.D.; growth velocity...

Background: Cystic fibrosis related diabetes (CFRD) affects 40-50% of adults with Cystic Fibrosis (CF) and significantly decreases pulmonary function and affects life expectancy. Previous data highlighted that CFRD may be preventable or curable with the use of CFTR modulators, namely Ivakaftor. Kaftrio (Ivakaftor, tezacaftor and elexacaftor) has recently been licensed for use in CF. To our knowledge, its effect on glucose regulation in children and young peopl...

During development, gonadotropin releasing hormone (GnRH) neurons are born in the nasal placode and migrate to the hypothalamus, where they position to regulate sexual reproduction by pulsatile release of GnRH. Defective GnRH neuron development or action may lead to GnRH deficiency (GD) which is characterized by absent or delayed puberty. Several GD causative genes have been identified so far, but half of the cases are still idiopathic. The employment of complementary research...

Background: Data on female fertility, pregnancy, and outcome of offspring after childhood-onset craniopharyngioma (CP) are rare.Study design: Observational study on pregnancy rate and outcome of offspring after CP in postpubertal, female patients recruited in KRANIOPHARYNGEOM 2000/2007 since 2000.Results: 451 CP patients (223 female) have been recruited. 269 CP patients (133 female) were postpubert...

Background: Although the transition from the pre-pubertal condition to puberty occurs physiologically within a bounded age range, recent data indicate a central role for epigenetics in the regulation of several genes that could mediate an alteration of pubertal onset. Moreover, changes occurring during this developmental stage have often been associated with susceptibility to a wide range of diseases in later life. To identify changes in DNA methylation profil...

A new condition, unique to Irish Travellers, was first described clinically as autosomal recessive natural killer and glucocorticoid deficiency (AR-NKGCD) ORPHA:75391 in 2008 and was attributed to recessive founder variant in MCM4/PRKDC gene in 2012. Irish Travellers are an indigenous endogamous population numbering ~40,000 in the Republic of Ireland. AR-NKGCD is characterised by short stature, glucocorticoid and natural killer cell deficiency and is a disorder of DNA repair. ...

Aims: The balance between hypo/hypercortisolism and hypo/hyperandrogenism is the main challenge in clinical management of patients with 21-hydroxylase deficiency (21OH-D). In adults, it has been established that both over and under-treatment might lead to the development cardiovascular risk factors. To date, only a few studies have addressed weather this risk begins in childhood. Aim of our study is to define the presence of early metabolic risk factors preval...

Introduction: In congenital adrenal hyperplasia (CAH), glucocorticoid (GC) treatment must perform two functions – to replace cortisol deficiency and to suppress the excess production of adrenal androgens. Unfortunately, androgen suppression usually requires supraphysiologic GC doses, which are associated with serious comorbidities. Our study examined the exposure or dose-dependent relationships between GCs and GC-related adverse events (GCRAEs) and comor...

Objective: Somatic mutations in the USP8 gene were discovered as the most common genetic defects in corticotropinomas with a frequency of 30 to 60% in adult patients. With regard to pediatric patients, establishing prevalence of USP8 mutations is still challenging due to the rarity of CD incidence in childhood.Aim: To determine the frequency of somatic genetic drivers of CD in a cohort of pediatric patients.<p class=...