ESPE Abstracts

X-linked hypophosphatemic rickets (XLH) is the most common form of hereditary rickets. It is caused by inactivating mutations in the PHEX gene (phosphate-regulating-endopeptidase-analog, X-linked), leading to increased fibroblastic growth (FGF-23) levels, responsible for the renal phosphate wasting. This results in hyperphosphaturia and hypophosphatemia, and altered bone mineralization, in the absence of vitamin D deficiency. Classical treatment consists on oral supplementatio...

Introduction: Von Hippel-Lindau disease(VHL) is an autosomal dominantly inherited tumor syndrome that predisposes to development benign and malignant tumors. The prevalence of VHL disease is one in 36,000, and the penetrance is higher than 90%. PCC occur in up to 20% of VHL patients. Classically, it is characterized by having an adrenal location, mostly bilateral and being derived from the sympathetic nervous system, resulting in the releases of catecholamines...

Background: Pituitary apoplexy (PA) is a rare clinical emergency in pediatric population. In patients with apoplexy-like symptoms, clinical and imaging features of PA, caused by hemorrhage in a pre-existing macroadenoma, are sometimes difficult to distinguish from Rathke cleft cyst (RCC).Case presentation: A 14.5-year-old boy, with an uneventful past medical history except for mild COVID-19 infection six months earlier, ...

Introduction: Prolonged evolution of an untreated hypothyroidism can lead to thyrotropic cell hyperplasia, which could be indistinguishable from a pituitary macroadnoma on resonance. Differential diagnosis is very important since it allows to avoid aggressive therapeutic behaviors.Case report: We show a 3-year-old girl who, in the context of a study due to psychomotor retardation, borderline head circumference and coarse features, presented in magnetic r...

Background: Central precocious puberty (CPP) is uncommon before the age of 4 and treatment with GnRH analogues have shown unequivocal benefits. CPP during or near mini puberty entails differential clinical and biochemical features in the diagnosis and leads to longer treatment and follow-up. There are very limited studies with long-term outcomes about CPP girls exclusively < 4 years of age regarding growth, menarche, and adult height after GnRHa withdrawal....

Introduction: Tuberous sclerosis (TS) is a rare, autosomal dominant, multisystem disease with a frequency of 1:6,000-10,000. It is caused by variants in the genes encoding hamartin (TSC 1) and tuberin (TSC 2) that normally act as inhibitors of the mTOR signaling cascade that regulates cell proliferation and migration, angiogenesis, and cell metabolism. The most frequent clinical presentation includes hypochromic macules, angiofibromas, hamartomas in the centra...

Introduction: Few studies have been published comparing the liquid and tablet formulations of L-T4 in pediatric patients, with a short follow-up period. Both formulations seemed to produce a rapid normalization of thyroid fuction with a tendency of a greater TSH inhibition in children taking the L-T4 liquid drops. The aim of our study is to compare the long-term effectiveness and saftey of both liquid and tablet L-T4 therapy in CH patients up to 3 years old via a multicenter s...

In a retrospective study (1), we found that a GH<6.5 μg/L, IGF-I-WHO87/518 <30 μg/L and IGFBP-3<0.8 μg/mL confirmed GHD diagnosis with high diagnostic accuracy in neonates with clinical suspicion of GHD. GH and insulin negatively regulate IGFBP-2, and it was proposed to reflect GH status in the diagnostic work-out of GHD in childhood and adults. The accuracy of IGFBP-2 has not been set for neonates.Objective: To prospectively v...

Background: Childhood critical period for onset/continuity of obesity with development of significant clinical and metabolic changes, impairing health in adulthood. Metabolic syndrome on rise both in adult and pediatric obese Indian population. Development of impaired glucose tolerance and progress to insulin resistance and other metabolic alterations like hypertension, dyslipidemia, Non alcoholic fatty liver disease are important.Aim: Evaluate insulin r...

Background: It’s well known that GnRH analogue (GnRHa) could not improve the final height of mid/late pubertal girls with central precocious puberty (CPP) or early and fast puberty (EFP) for their low growth potential.Objectives: To evaluate the effect of combined treatment with GnRHa and GH on the linear growth in mid/late pubertal girls with CPP/EFP at great bone ages. To investigate the relation between C-type natriuretic peptide (CNP) and GH&#14...