ESPE Abstracts

Purpose: The aim of the present study was to determine the efficiency of three different predictive models [Bayley-Pinneau (BP), Roche-Wainer-Thissen (RWT), and Tanner-Whitehouse 2 (TW2)] by comparing their predictions with near-adult height (NAH) data of girls who received gonadotropin-releasing hormone agonist (GnRHa) therapy.Methods: Clinical findings were retrospectively analyzed. Bone age (BA) was determined by thre...

Introduction: Hypoglycemia is the most common acute complication in T1D. It has ominous symptoms and it is potentially fatal. Parents of infants with T1D are instructed in how to avoid, detect and manage these episodes. However, it is well known that many parents develop fear of hypoglycemia (FoH) which may lead to phobic avoidance behaviors such as permanent hyperglycemia and anxiety, losing optimal metabolic control. We aimed to explore how parenting stress ...

GR and GT are diamniotic monochorial preterm twins (32 GA), both AGA (GR: W -1 SDS, L -1.5 SDS; GT: W and L 0 SDS), with normal karyotype and array-CGH on amniotic fluid, with no major complications associated to prematurity. At birth GT presented bilaterally cryptorchidism associated with micropenis, GR presented normal male genitalia. In the first year of life a severe growth deceleration in length (from -3SDS to -5 SDS) was observed, mainly after six months of life in both ...

Background: Congenital hyperinsulinism (CHI) is a heterogeneous group of disorders, characterized by hypoglycemia due to inappropriate insulin secretion. Despite huge progress in understanding the pathophysiology of CHI, its etiology remains unknown in about 30% of cases.Aim: To perform whole-exome sequencing in patients with CHI.Results: A total of 314 patients with congenital hyp...

Background: Prader orchidometry has been the standard method for evaluating testicular size. As this technique is subjective and tends to overestimate the testicular volume, ultrasound has been proposed as a more reliable method.Objective: To evaluate the intra- and inter-observer agreement of ultrasound measurements of testicular volume and comparison with Prader orchidometry.Materials and methods: Length, width and depth of the r...

Introduction: Subacute thyroiditis or De Quervain’s Thyroiditis is a self-limited inflammatory thyroid disease that is considered to be caused by a viral infection. Its incidence during the first decade of life is extremely rare. During the acute phase of the disease which lasts 2 to 6 weeks, the inflammatory process results in a temporary release of thyroid hormone with biochemical hyperthyroidism with or without symptoms. This phase is followed by a period with failing ...

Background: Jacobsen syndrome is a rare genetic condition caused by partial deletion of the long arm of chromosome 11 associated with delayed development, distinctive facial features, bleeding disorder, skeletal abnormalities and endocrine disorders.Case report: We report a rare case of Jacobsen syndrome in 4 year old boy addressed for short stature. Born at term (36 W) with low birth weight (1780 g) and delayed development, his height at presentation wa...

Background: SHORT syndrome is an autosomal dominant genetic multisystem disorder determined by PIK3R1 gene mutations, which normally plays a role in cell signalling. SHORT is an acronym for short stature, hyperextensibility of joints and/or hernia, ocular depression, Rieger anomaly and teething delay. It is a rare condition; its prevalence is unknown with only few affected individuals and families reported worldwide.Case report: We report a case of 4 yea...

Background: Autoimmune thyroid disease can be sometimes associated with autoimmune thrombocytopenia and decreased renal function.Case report: A 17-year-old female patient was referred to our endocrine department for evaluation of hypothyroidism (TSH=150 mcIU/ml, FT3=0 pg/ml, FT4<0.1 ng/dl) presenting severe fatigability and myalgia. From her medical history we mention that she was diagnosed with thrombocytopenia 1 year ago (85.000/mm...

Background: Micropenis are the most common signs of incomplete masculinisation, but do not receive enough attention. The etiology is very complex, including endocrine factors, genetic factors and environmental endocrine disruptors.Objective and hypotheses: To explore 45 cases of micropenis children steroidogenesis factor 1 genetic abnormalities and to research the influence of the mutation on sex gland function.Method: 45 micropeni...