ESPE Abstracts

Context: Children with 21-hydroxylase deficiency (21OHD) require chronic glucocorticoid administration to substitute glucocorticoids and suppress adrenocorticotropic hormone-induced hyperandrogenemia. There is still no evidence about the best timing of the highest hydrocortisone (HC) dose. Administration of the highest dose in the morning aims to mimic the physiological rhythm of cortisol, while a high dose late in the evening may inhibit the early-morning inc...

Introduction: Cortisol homeostasis dysregulation has been associated to essential hypertension in adults. Higher levels of cortisol have been described in preterm-born individuals, who have also a higher risk of hypertension at younger ages. Several enzymes modulate peripheric cortisol metabolism. The 11b-hydroxysteroid dehydrogenase (11b-HSD) type 2 metabolizes cortisol into cortisone, preventing mineralocorticoid receptors’ activation by cortisol. The i...

Introduction: Health related Quality of Life (QoL) outcome is used as an argument when continuation or stopping growth hormone (GH) treatment is considered in patients with idiopathic isolated growth hormone deficiency (IIGHD) who tested GH sufficient in mid-puberty (inclusion moment for this study).Aim: To assess potential differences in QoL between patients with IIGHD who discontinued treatment and those who continued ...

Introduction: X-linked hypophosphatemia (XLH) is a rare, progressive, genetic disorder causing phosphate wasting; hence symptoms in children include impaired growth, lower limb deformities, chronic pain and impaired physical function. Health-related quality of life (HRQoL) of patients with XLH on conventional therapy is lower than that of the general population. Burosumab has been shown to improve HRQoL in younger children and adults, but its effects in adoles...

Background: DHEAS is the most abundant adrenal steroid and it is also a neurosteroid, produced at the cerebral level from pregnenolone and 17OH-pregnenolone. It antagonizes the effects of cortisol at the level of glucocorticoid receptors, modulating biological energy output, inflammatory status, action of other steroidal hormones, and different brain functions, hypothalamus being rich in corticosteroid receptors. DHEAS secretion is usually synchronized with co...

Introduction: Hyperthyrotropinemia is common in patients with obesity and has been hypothesized that high TSH could be associated with an adverse metabolic profile. Few studies have been performed in pediatric population and the results are controversial.Objective: Aim of the study was to evaluate the association between TSH and metabolic syndrome (MS) in a large group of obese children and adolescents.<p class="abst...

Introduction: Metabolic syndrome (MS) is a known complication of obesity. It is still unclear whether gender and puberty influence the prevalence of MS in children and adolescents.Objective: Aim of the study was to evaluate the effect of gender and puberty on the prevalence of MS and on cardiovascular risk factors (CVRF) in obese children and adolescents.Patients and Methods: 1437 obese patients (age 9.7 (2.2–17.9) ys; 660 Mal...

Introduction: The evolution of Hashimoto Thyroiditis (HT) has been investigated by several studies both in pediatric and adult age. However, there are limited data on the progression of the disease from childhood to adulthood.Objective: Aim of the study was to describe the evolution of thyroid function in children with HT from childhood to young adulthood.Patients and Methods: The diagnosis of HT was defined by the presence of anti...

Background: Congenital hypopituitarism (CH) is characterized by a deficiency of one or more pituitary hormones. Mutations in the genes coding for transcription factors, such HESX1, involved in the development of the pituitary, determine a highly variable phenotype which may include severe midline defects, septo-optic dysplasia and other congenital abnormalities. A small number of HESX1 variants have been identified in humans. The phenotype sh...

Background: GH secretion is classically assessed by provocative tests and, indirectly, by IGF-1 serum levels. However, their diagnostic accuracy is low. The aim of the study was to evaluate the adult height (AH) in short patients with IGF-1 ≤-1,5 SDS.Method: 52 short patients (height-SDS -2.6 (-3.1- -2.3), age 12.2 (10.2-13.7) y, 36 boys), with low height velocity(HV)-SDS (-1.6 (-3.2- -0.9)) and IGF-1 ≤-1,5 SDS (-2...