ESPE Abstracts

Background: short stature can lead to emotional and social stress in children and adolescents. We previously demonstrated in a cohort of 74 children that a one-year growth hormone treatment (GHT) is associated with a significant improvement of quality of life (QoL) especially on emotional and social scales, both in general (PedsQL 4.0) and height-specific (QoLiSSY) questionnaires. Whether this improvement is sustained until adult height remains to be documente...

Introduction: Early-onset severe obesity (before five years of age) without intellectual deficit, dysmorphisms, or malformations raises the hypothesis of monogenic obesity. The leptin receptor (Lepr) pathway is essential for food intake regulation, energy expenditure, and body weight. Mutations in leptin and the Lepr have been shown to cause early-onset severe obesity in mice and humans.Objective: To report the clinical ...

Introduction: A transgender individual’s voice may contribute to the negative psychosocial outcomes. Some studies have shown that an incongruence between one’s voice and internal gender identity can be a potential source of ongoing psychological distress and could impact on their social interactions, employment outcomes, and invite verbal or physical harassment. This study was aimed to examine whether early puberal blockage (PB) impacts on self per...

The diagnosis of early thelarche is common in Pediatric Endocrinology consultations, with many cases lacking an organic cause. It can either spontaneously resolve, remain stable, or progress to precocious puberty. Early exposure to endocrine-disrupting environmental pollutants (EDs) with estrogenic and/or anti-androgenic effects during pregnancy or childhood may affect the timing of thelarche onset and/or puberty in girls. Further research is needed to better understand the in...

Background: LUM-201, a potent long-acting oral GH secretagogue (GHS), acts on the GHS Receptor-1a to induce GH secretion. The best candidates for this investigative oral treatment are pre-pubertal children with moderate GHD (standard stimulation testing peak GH between ≥3 <10ng/ml) that respond positively to the LUM-201 Predictive Enrichment Marker (PEM) test (Bright et al JES, 2021). PEM positive responders have basal serum IGF-1 >30ng/ml and a peak ...

Introduction: Pituitary gigantism in children is a rare condition that results from excessive production of growth hormone (GH). The most common cause of gigantism is GH secreting pituitary adenomas, thart arise from excessive proliferation of somatotropic cells in the anterior portion of the pituitary gland. The described pediatric incidence is 3-8 cases per 1 million population. There are genetic syndromes associated with GH excess, especially in pediatric p...

Introduction: Isotretinoin is used for treatment of dermatological diseases, such as severe acne. It’s also recommended for treatment of high-risk neuroblastoma and pediatric medulloblastoma, but in these cases higher doses are necessary.Case report: A 12-year-old male patient with poorly differentiated embryonal origin carcinoma in the posterior fossa and implants in the neuroaxis. Next-generation sequencing genet...

Introduction: In hypoparathyroidism and pseudohypoparathyroidism, impaired parathyroid hormone (PTH) function leads to hypocalcaemia, often presenting in children with acute symptoms such as tetany, seizures, hyperreflexia. High-dose calcium supplementation is usually necessary. However, beyond severe symptoms relief, the primary goal of treatment should be to maintain serum calcium levels in the lower quartile of normal range, in order to prevent nephrocalcin...

The cause of pseudo-hypoparathyroidism (PHP) is structural mutations or epigenetic modifications of the GNAS gene, which encodes the alpha subunit of the G protein.The aim: of the study is to compare the genotype of patients with GNAS mutation with their phenotype.Materials and Methods: 28 patients (16 F and 12 M) diagnosed with PHP were analyzed. Among them, 13 came from six unrelated Polish famil...

Introduction: Precocious development of secondary sexual characteristics in both sexes indicates early reactivation of the hypothalamic-pituitary-gonadal axis, known as central precocious puberty (CPP). CPP should be considered in males under nine years old when testicular volume exceeds 4 milliliters. This condition is rare (1 male per 15 girls), and secondary causes must be promptly excluded due to the higher likelihood of intracranial pathology. Recent stud...