ESPE Abstracts

Background: Previously we showed that pubertal children born small for gestational age (SGA) with a poor adult height (AH) expectation can benefit from treatment with GH 1 mg/m2 per day (~0.033 mg/kg per day) in combination with 2 years of GnRH analogue (GnRHa) and even more so with a double GH dose. GnRHa treatment is thought to have negative effects on body composition and blood pressure. Long-term effects and GH-dose effects on metabolic health in children treate...

Abnormal DNA methylation contributes to tumor progression and is emerging as a prognostic marker in several types of cancers. To investigate whether DNA methylation is associated with pediatric adrenocortical tumor (pACT) presentation and patient prognosis, we analyzed the methylation profile of 57 tumors (MethylationEPIC BeadChip Array-Illumina) and patients’ clinicopathological features and outcome. The study comprehended 40 girls and 17 boys, with median age at diagnos...

Family-based behavioral treatment (FBT) is the recommended intervention for children with obesity (OB). However, there is a large variability in short- and long-term treatment response and mechanisms for unsuccessful treatment outcomes are not understood. We studied brain regions involved in satiety processing in 9-11-year-old children with obesity (OB, n=54) and children with healthy weight (HW, n=22). Subjects underwent a functional magnetic resonan...

Background: Recent studies have analyzed the influence of perfluoroalkylated substances – PFAS (in particular PFOS and PFOA) on people and thyroid. Children are primaly affected by these pollutants. On the other side variation of incidence of congenital hypothyroidism (CH) has been shown in recent years by different studies. We sought to determine whether the incidence of CH in north-eastern Italy has changed in relation to some endocrine disruptors and t...

Background: Somapacitan is a reversible albumin-binding growth hormone (GH) derivative in clinical development for once-weekly administration in patients with GH deficiency (GHD). Clinical data in healthy subjects, and adults and children with GHD showed that once-weekly somapacitan injections were well tolerated with no clinically significant safety or local tolerability issues. A sustained dose-dependent IGF-I response supports a once-weekly treatment regimen.<p class="a...

Background: Insipidus diabetes is a rare disease in pediatric endocrinology.Objective and hypotheses: Facing a thickened pituitary stalk on MRI pituitary, the main diagnosis to mention are: dysgerminoma, histiocytosis, sarcoidosis, and autoimmune hypophysitis. Histiocytosis is a rare and often underdiagnosed cause.Method: We report the case of a teenage girl who presented polyuria–polydipsia syndrome at the age of 14 years con...

Background: Triple A syndrome is a rare autosomal recessive disorder characterized by adrenal failure, alacrima, achalasia, and a variety of neurological features. In 70% of the families it is caused by mutations in the AAAS gene. Linkage analyses indicated genetic heterogeneity and exome sequencing revealed two further genes causing triple A-like syndromes.Objective and hypotheses: To summarise the genotypes and phenotypes of classic triple A s...

Background: Primary adrenal insufficiency (PAI) in children is an uncommon condition. Diagnosis is usually challenging especially in resource limited settings where facilities for antibodies and genetic testing are constrained. Many genetic etiologies have been reported in children with PAI due to congenital adrenal hyperplasia (CAH) and Allgrove syndrome are the commonest identified genetic causes to date in Sudan. Studies from Africa are rare and here we des...

Nicotinamide nucleotide transhydrogenase (NNT) is expressed in the heart, thyroid, and testicles, where it maintains the balance of reactive oxygen species in the mitochondria. It is linked, by an insufficiently described mechanism, to primary adrenal insufficiency (PAI) with or without mineralocorticoid insufficiency and several extra-adrenal manifestations (i.e. gonadal adrenal rest tumors, cardiomyopathy, hypothyroidism, and precocious puberty). A comprehensive and chronolo...

Introduction: Childhood obesity is associated with alterations in hypothalamus-pituitary-adrenal axis activity. We tested the hypothesis that multiple alterations in the metabolism of glucocorticoids are required for the development of hypertension in children who become overweight.Methods: Timed spot urine for targeted gas chromatography-mass spectrometry steroid metabolome analysis was collected from (1) overweight/hyp...