ESPE Abstracts

Introduction: Central Precocious Puberty (CPP) has recently been described in patients with isolated or syndromic neurodevelopmental disorders, with greater attention from the scientific community. We carried out this study to compare the main aspects of non-isolated and isolated forms of CPP.Methods: We conducted a retrospective monocentric study, collecting all treated cases of CPP from 1st January 2013 to 31 December ...

Background: In young adults patients (pts) with CAH due to 21OHD few and conflicting data have been reported on bone mineral quality (BMQ) evaluated by quantitative ultrasound (QUS).Objective and hypotheses: To evaluate the bone mineral status by QUS variables assessed at proximal phalanges of the hand in a cohort of young adults with classical CAH due to 21OHD and the possible associations with their clinical and metabolic features.<p class="abstext...

Background: Thyroid nodules (TN) are rare in children but often show more aggressive features than in adults. Irradiated childhood cancer survivors (CCS) are at risk for malignant thyroid nodules.Objective and hypotheses: To retrospectively compare the incidence of differentiated thyroid cancer (DTC), the clinical onset and the medium-term follow-up in a pediatric population (EC <18 years), with and without risk factors examined for TN, among 1990 an...

Objectives: 1. To describe the clinical, biochemical and testicular ultrasonographic features in a population of males with congenital adrenal hyperplasia (CAH) and Testicular Adrenal Rest Tumor (TART). 2. To identify factors related to the onset of TART. 3. To evaluate the therapeutic management and outcome of TART.Methods: Males with classic and non-classic 21β-hydroxylase-deficient CAH, diagnosed with TART, follo...

Background: Growth hormone (GH) has been shown to reduce insulin sensitivity in Turner girls, however a compensatory increase of insulin secretion by pancreatic beta cells usually occurs, probably stimulated by GH itself. Oral disposition index (ODI) express the capacity of beta cells to adapt to insulin sensitivity.Objective and hypotheses: To study longitudinally the insulin sensitivity (HOMA-S), the insulin secretion (IGI) and the ODI in a group of gi...

Background: GH has been shown to influence glucose homeostasis through a negative effect on insulin sensitivity followed by a compensatory increase of insulin secretion. However it has been recently reported, in animals and in humans, that GH might stimulate insulin secretion also through a direct effect on the growth and on the function of the pancreatic β cell.Objective and hypotheses: To study longitudinally the insulin sensitivity (HOMA-S), the ...

Background: Adrenal insufficiency (AI) is a rare condition caused by an inadequate production of glucocorticoids. Preliminary data in adults suggest that AI could be associated with an increased susceptibility to infections; moreover, AI patients are at risk to develop a severe course of infectious diseases and to experience a life-threatening adrenal crisis. The aim of our study is to evaluate the severity and the outcome of COVID-19 in pediatric AI patients ...

Background: Steroidogenic factor 1 (SF1), encoded by the gene NR5A1, is a member of the orphan nuclear receptor superfamily and important regulator of gonadal and adrenal function. Variations in SF1 lead to a spectrum of conditions including 46,XY DSD, hypospadias, adrenal insufficiency, male factor infertility, and primary ovarian insufficiency. Inheritance patterns can be complicated (e.g. de novo dominant, sex-limited dominant, and autosomal recessive). In...

Background: Final height (FH) in patients (pts) with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is often under the genetic target, despite improvement of new therapeutic strategies.Objective and hypotheses: The aim of this study is to evaluate FH in a cohort of pts with CAH due to 21OHD diagnosed before and after newborn screening (NBS) era in Emilia-Romagna, Italy.Method: We evaluated final heigh...

Delayed puberty (DP) is defined as a retardation of sexual maturation beyond the expected age, which conventionally is between 8 and 13 years in females. Since DP due to hypogonadism requires a specific treatment, it is crucial to promptly define the underlying pathogenesis and identify a tailored program of care. Hormonal therapy is essential to promote the development of secondary sexual characteristics, bone, muscle, and social, sexual, and psychologic skills. Despite the o...