ESPE Abstracts

Background: Children affected by cerebral palsy (CP) could experience central precocious puberty (CPP) 20 times more than general population. Nevertheless, the treatment is challenging.Objective and hypotheses: To compare CPP features and the effects of gonadotropin-releasing hormone agonist therapy (GnRHa) in children with CP and in controls.Method: The study involved 16 children with CPP and CP (median age (range) at diagnosis of...

Background and Aim: Congenital hypothyroidism (CH) is a well-known condition. Nevertheless, recent questions in clinical practice, especially in neonatal intensive care setting, prompted us to review the natural history of CH in our cohort.Methods: This is a retrospective, observational study collecting anamnestic, anthropometric (height SDS, BMI SDS), diagnostic (TSH, fT4, thyroid ultrasound) and therapeutic data (dose ...

Introduction: Graves-Basedow disease (GD) is the most common cause of thyrotoxicosis in pediatric age. Multi-factorial pathogenesis stand on the basis of the autoimmune disorder activation, leading to lymphocyte imbalance that include increased CD4+ and CD8+ subtypes, increased CD4+/CD8+ ratio and B cells dysregulation. The aim of this study is to determine the potential prognostic value of lymphocyte population parameters in pediatric GD.<p class="abstext...

Introduction: Precocious Peripheral Puberty (PPP) due to autonomous ovarian activation is the most frequent endocrinopathy in girls with McCune-Albright Syndrome (MAS). Main goals of treatment for PPP are to reduce signs of estrogen exposure, also improving final height, and mitigate secondary psychological influence of sexual hormones exposure. This retrospective study analyzes the long-term safety and efficacy of letrozole treatment in a cohort of girls with...

Case reports: Patient 1 was diagnosed with Williams Syndrome (WS) when she was 11 years-old. She presented typical facial features, mental retardation (IQ 34) and chronic constipation. Pregnancy and neonatal period were unremarkable. Her growth has always been satisfying. No cardiac defects were detected at echocardiogram. Cerebral MRI showed enlarged pituitary (height of 9 mm) in the contest of which a mass with suprasellar extension was detected. Thyroid and adrenal...

Introduction: The beginning of the COVID-19 pandemic encouraged a sedentary lifestyle and “covibesity” was reported. Concerns for consequences on anthropometric data, glycemic control, and lipid profile in subjects with type 1 diabetes (T1D) were raised.Objectives: Longitudinal and observational study aimed to investigate the 2-years effects of the COVID-19 pandemic on BMI, glycemic control, and lipid profile...

Introduction: Telemedicine was adopted during the lockdown due to the COVID-19 pandemic in the follow-up of patients with type 1 diabetes (T1D). Because of its potential to reinforce self-management support outside health care settings it was used still after the lockdown.Objectives: Longitudinal and observational study aimed to investigate effectiveness of telemedicine in the follow-up of young people with T1D over the ...

Introduction: Gonadotoxicity associated with chemotherapy of hematologic malignancies has been described mainly in adults, focused on the sensitivity of germ cells. Little attention has been placed on Sertoli cells during childhood and puberty, even though Sertoli cell development is essential for adult spermatogenesis.Objective: To assess function of the pituitary-testicular axis, with emphasis on Sertoli cell function,...

Background: Several genetic defects (GHR, SHOX, GHSR, NPR2, IGFALS) have been reported in children classified as ISS. ISS children are GH sufficient and about one third of them show low IGF-I levels, suggesting some degree of GH insensitivity.Objective: To explore potential genetic defects in ISS children suspicious of GH insensitivity, selected by low IGF-I levels and low response to IGF generation test.<...

Background: Human IGF1 gene defects are characterized by intrauterine and postnatal growth retardation, sensorineural deafness, microcephaly and intellectual disability. Seven cases have been reported so far, and the underlying pathophysiology has been characterized in only three.Objective: To describe a patient with severe short stature presenting a novel homozygous IGF1 gene mutation and its underlying pathogenic mechanism.<p clas...