ESPE Abstracts

Introduction: Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys. PMDS is caused by mutations in the genes coding anti-Müllerian hormone (AMH, PMDS type 1) or the AMH receptor (AMHR2 gene, PMDS type 2) and it usually presents as undescended testes (cryptorchidism) or inguinal hernia...

Background: Recent studies showed that Rotavirus vaccination may affect the prevalence of type 1 diabetes (T1D). Our aim is to determine the prevalence of early childhood (<5 years) T1D before and during the introduction of Rotavirus vaccination in Israel by syndromic surveillance.Methods: Data on insulin purchases reported by Israel’s four health care organizations (HMOs) was retrieved from the National Program...

Introduction: Endocrinopathies are common features of intracranial germ cell tumours (IC-GCTs), either as presenting symptoms caused by tumour itself or as side effects of treatments.Aims: We examined the development of endocrine dysfunctions in a cohort of paediatric patients with IC-GCTs at diagnosis and during follow up.Methods: We collected clinical, radiological, histopathological and hormonal...

Introduction: Delays in diagnosis of IC-GCTs in the paediatric age have been frequently reported, affecting outcomes and prognosis.Aims: This study analysed clinical features of children with IC-GCTs treated at two European tertiary centres in the last 25 years. We retrospectively reviewed time lag between symptoms onset, radiological findings and definitive diagnosis of IC-GCT.Methods: Presenting ...

Background: X-linked hypophosphatemia (XLH) is a rare metabolic bone disease which is caused by inactivating mutations in Phosphate-regulating neutral endopeptidase, X-linked (PHEX). Due to dysregulation of Fibroblast growth factor 23 (FGF-23), increased systemic levels of FGF-23 lead to chronic renal phosphate wasting and to impaired activation of 25OH-Vitamin D (25OHD). As a result, patients suffer from multiple musculoskeletal symptoms such as long bone def...

Background: Overweight as a predictor of adverse cardiovascular outcome is of particular interest in gender-affirming healthcare. Transgender populations are at a higher risk for obesity, possibly due to a combination of minority stress, psychiatric comorbidity, and lifestyle differences, such as reluctance to participate in group sports as a consequence of social withdrawal. However, robust auxological data in transgender adolescents is scarce.<p class="a...

Background: Juvenile idiopathic arthritis (JIA) is a heterogeneous group of diseases associated with an increase of inflammatory cytokines that may to influence child growth. However this is already known, to date auxological data published of JIA patients during biologic treatment are incomplete and very heterogeneous.Objective and hypotheses: To evaluate the auxological features in a selected cohort of patients with JIA treated with biologic drugs....

Background: McCune–Albright syndrome (MAS) is defined by skin, bone and glands disorders, due to activating mutations in the GNAS1. Clinical presentation is heterogeneous. Reports about GH excess in MAS patients are scarce.Case report: We present the case of an 8-year-old male, previously diagnosed with mono-ostotic fibrous dysplasia of the skull, referred due to signs of pubertal development since the age of 6. The patient presented only 1...

Background: Postnatal linear growth is characterized by a steady decline of growth velocity in healthy individuals, with the exception of sex-steroid induced pubertal growth. Pharmacologic interventions in growth disorders are limited to systemic application of growth factors such as growth hormone, and CNP analogues in conditions with FGFR3 overactivation. Tyrosine kinase receptor inhibitors (TKI) represent a heterogenous group of drugs, mostly used for oncol...

Among the acquired causes of growth hormone deficiency (GHD) in childhood, the most common reasons are benign or semimalign pituitary tumors - first and foremost craniopharyngiomas or dysgerminomas. We report on a very rare differential diagnosis in a 11-year-old, prepubertal boy with a growth arrest (1.1 cm in 2 years, height - 2.38 SDS). 2 growth hormone stimulation tests confirmed GHD (2,7 and 2,3 ng/ml after priming). There was mild central hypothyroidism (fT4 1.04 ng/dl, ...