ESPE Abstracts

Background: The approach to clinical management of Graves’ disease (GD) is debatable.Objective: This study aimed to identify predictors of remission in pediatric GD.Methods: A longitudinal study of 36 children and adolescents with Graves’ disease followed from 1997 to 2017 at a single pediatric tertiary hospital was performed. Clinical and biochemical parameters, including comorbidities, treatment with anti-thyroid drugs ...

Introduction: Complete Androgen Insensitivity Syndrome (CAIS) is characterized by a complete external genitalia appearance and testicular development in 46,XY individuals harboring pathogenic allelic variants in the AR gene. Due to growing evidence regarding the low risk of germ cell tumors (GCT) in AIS. Prophylactic gonadectomy has been debatable in the CAIS management, mainly due to the absence of an accurate biomarker for GCT....

Familial Male-limited Precocious Puberty is a rare form of gonadotropin-independent precocious puberty. It is inherited in an autosomal dominant manner and it is caused by mutation in the LH/chorionic gonadotropin receptor (LHCGR) that promotes the production of cAMP without the hormone ligand, causing increased androgen production that determines the onset of puberty. The prevalence reported is less than 1/ 1 000 000. As there are few cases reported in the literature, informa...

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...

Introduction: The metabolic effects of oral hormonal contraception (OC) on telomere length (RTL) in young women with T1D are unknown.Objective: To determine the effect of using an OC on glycemic control, inflammatory profile, and RTL in young women with T1D and healthy women without diabetes (C).Methodology: T1D (n:20, age: 20.6 ± 3.3 years) and C (n:22, age 20.2 ± 3 years) u...

Deficiency of pregnancy-associated plasma protein-A2 (PAPP-A2), a regulator of IGF-1 availability, causes postnatal growth failure in humans and mice, at least in part through dysregulation of bone size and density. The present study aimed to determine the effects of Pappa2 gene deletion and the response to recombinant murine IGF-1 (rmIGF-1) on femur microstructure and composition. Hydroxyapatite-related crystallography and ionic substitutions were analyzed by X-ray p...

Pregnancy associated plasma protein (PAPP)-A2 is an insulin-like growth factor (IGF) binding protein (BP) protease that regulates IGF-1 availability affecting postnatal growth. Mutations in human PAPP-A2 cause short stature and changes in bone size and mineral density. The present study aimed to characterize the effects of constitutive Pappa2 gene deletion on hypothalamic regulation of energy homeostasis in adult male and female mice. In addition to being sho...

Background: Insulin resistance precedes metabolic syndrome abnormalities, and may promote cardiovascular disease and type 2 diabetes in obese children. Lifestyle modification programs have been proposed as the gold standard of care in these individuals. However, results have been discouraging and the use of adjuvant strategies has been necessary. Metformin has beneficial effects on weight reduction, favoring a decrease in body mass index (BMI) and insulin resistance in obese n...

Background: X-linked hypophosphatemic rickets (XLH) is caused by inactivating mutations in the phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX). In this group of patients, data about renal calcifying disorders are scarce.Objective and hypotheses: To determine the prevalence of nephrocalcinosis and nephrolithiasis and their risk factors in XLH patients.Method: 36 patients (15 children a...

Background: Feminising preocious pseudo-puberty in McCune Albright syndrome (MAS) and juvenile granulosa cell tumour (JGCT) arises from bilateral and unilateral estradiol hypersecretion respectively. GNAS mutations have been described in some cases of JGCT as well causing MAS.Aim: To describe a case in which MAS was evoked initially, but then progressed to JGCTCase: A girl aged 2 y...