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 ...

Transient neonatal diabetes mellitus (TNDM) occurs in 50-60% of all cases of neonatal diabetes mellitus (NDM). The most common cause of TNDM (70%) is almost invariably associated with defect in chromosome 6 and mutations in the KCNJ11, ABCC8, INS, NHF1B etc. genes. TNDM is caused by mutations in the GATA6 gene in rare cases. This gene encodes a transcription factor that is important for the development of the hematopoietic, cardiac and gastrointestinal systems.<p class="ab...

Introduction: Severe insulin resistance due to insulin receptor mutation is usually diagnosed at the neonatal period (Donohue and Rabson-Medenhall syndromes), or later in a type A insulin resistance syndrome. We report here two cases of insulin receptor mutation whose presenting signs were less noticeable.Observation: A 13-year-old girl was referred for short stature (Height −2.5 SDS) with SGA (birth length 44.5 cm, at gestational age 41 weeks). Cl...

Introduction: Multinodular goiter (MNG) is a common disorder of the thyroid gland, characterized by thyroid enlargement due to the development of multiple hyperplastic nodules. It is infrequent in children. Here, we present the case of two families with novel DICER1 mutations and familial history of nodules in adolescence.Observations: A 10-year-old female presented a MNG. TSH, Free T3, Free T4 were in the normal range and thyroid autoantibodies were neg...

Background: In 2003 recombinant human growth hormone (rhGH) was approved by European Medicines Agency to treat short children born small for gestational age (SGA), but so far no study evaluated the prevalence of SGA children with short stature who qualify for rhGH treatment in Europe.Objectives: To investigate the prevalence of SGA and short stature in children born SGA and of SGA children who qualify for rhGH treatment ...

Background: Congenital isolated ACTH deficiency (IAD) is a rare inherited disorder that is clinically and genetically heterogeneous. Patients are characterized by low or absent cortisol production secondary to low plasma ACTH despite normal secretion of other pituitary hormones and the absence of structural pituitary defects. Mutations in the TBX19 gene, a T-box factor selectively expressed in developing corticotroph cells, have been identified so far only in cases of neonatal...

Introduction: The diagnosis of GHD requires the coexistence of anamnestic, auxological and laboratory data. The latter are burdened by the poor accuracy and adverse effects of the stimulation tests. A recent european audit (Horm Res Paediatr 2019;92(3): 150-156) on GH diagnostic reported as preferred tests in Italy Insulin tolerance test (ITT), glucagon, clonidine, arginine and Arg-GHRH. We conducted a survey to explore which of them are most used in It...

Objective: To determine the prevalence of congenital hypothyroidism (CH) in children with dry bloodspot TSH (b-TSH) between 5 and 10 mIU/l in neonatal screening and evaluate their thyroid function evolution.Methods: Retrospective study of thyroid function in children born from 2003 to 2010 with b-TSH between 5 and 10 mIU/l who were put on treatment in the first two years of life due to serum TSH≥10 mIU/l. The prevalence of CH ...

Background: Autosomal recessive omodysplasia is considered a rare skeletal dysplasia characterized by severe micromelia with shortening and distal tapering of the humeri and femora.Objective and hypothesis: To report the prenatal findings of a patient with autosomal recessive omodysplasia, a rare condition characterized by disproportionate short stature.Population and/or methods: We performed a description of the case along with a ...

Background: CDC (Centers for Disease Control and Prevention) reported an increased risk of newly diagnosed diabetes over 30 days after SARS-CoV-2 infection among persons aged < 18 years. Similarly, the results from the DPV Registry demonstrated a significant increase in the incidence of pediatric Type 1 Diabetes during COVID-19 pandemic. The underlying mechanisms are not yet elucidated.Aim: To investigate the incidenc...