ESPE Abstracts

Background: The patatin-like phospholipase domain-containing protein 3 (PNPLA3) I148M and the transmembrane 6 superfamily member 2 (TM6SF2) E167K polymorphisms have been recognized as the major risk polymorphisms for Non-Alcoholic Fatty Liver Disease (NAFLD). Data supported a close relationship of NAFLD with thyroid function both in adults and children. To investigate the influence of NAFLD and of its genetics on thyroid function.<p class...

Purpose: Leptin plays a key role in the regulation of body weight and other endocrine systems. Recently, impairment of leptin gene transcription due to genetic variations in a long-noncoding RNA, also referred as lncOb, has been described in mice. In humans, a correspondent polymorphism (rs10487505) has been associated with relatively low plasmatic leptin levels compared to obesity severity and with early obesity onset.Objectives...

Silver-Russell syndrome (SRS) is a rare heterogeneous syndrome associated with severe prenatal and postnatal growth retardation.Context: There is little information on puberty onset and bone age trend in children with SRS.Study Design and partecipants: Retrospective observational study, including patients with a confirmed diagnosis of SRS divided in 2 molecular groups [ 11p15 loss of methylation, (...

Background: Thyroid dysfunction is a well-known endocrine complication after cervical irradiation for Hodgkin’s lymphoma (HL). The most common are primary hypothyroidism (20–30%), central hypothyroidism, transient thyroiditis and thyroid cancer. Graves’ disease (GD) is less frequent (5%).Objective and hypotheses: We describe a boy, already diagnosed with thyroiditis, who developed GD during follow-up for severe hypothyroidism following rad...

Background: Leprechaunism, also known as Donohue syndrome, is due to a severe congenital insulin-resistance, with prenatal and neonatal growth retardation, typical dysmorphic features, glycaemic dysregulation with hyperinsulinism and hyperandrogenism.Objective and hypotheses: These patients have a poor prognosis with death in the first year of life.Method: We report the case of a newborn (35.4 weeks) with severe fetal growth restri...

There is little information on metabolic profiles and Body Composition in children with Silver-Russell syndrome (SRS).Methods: 31 SRS patients [16 subjects with 11p15 loss of methylation (11pLOM) and 15 subjects with maternal uniparental disomy of chromosome 7 (mUPD7); mean age 7.4±4.3 years] and non-SRS subjects [34 small for gestational age (SGA), 13.4±2.7 years, and 44 appropriate for gestational age (AGA), 6.9 ± 1.4 ye...

Mosaic variegated aneuploidy (MVA) syndrome represents a rare autosomal recessive disease characterized by aneuploidies with gain and loss of multiple chromosomes. We describe case of two Moroccan brothers with MVA2, due to CEP57 mutations. Patients are 17 and 13-year-old male siblings of a Moroccan healthy consanguineous couple. Oldest brother was delivered at 35 gestational weeks after IGR diagnosis, small for gestational age (SGA, 1300 grams, -3 SDS). Younger patient’...

Introduction: Kisspeptin stimulates the gonadotropin releasing hormone (GnRH) neurons in hypothalamus initiating puberty. However, it is not known whether GnRH inhibits kisspeptin secretion by negative feedback and whether there are any associations between circulating levels of kisspeptin and other hormones, like ghrelin, important for the onset of puberty.Methods: Thirteen girls with suspected central precocious pubert...

Background: Papillary thyroid cancer has been described in three patients with Turner syndrome (TS) who received growth hormone therapy (Cabanas P, 2005; Bautembach-Minkowska J, 2018). We are presenting a case of papillary thyroid cancer in a girl with a late-diagnosed Turner syndrome who has not received any hormonal therapy up to 17 years.Clinical case: A girl was diagnosed with TS syndrome (karyotype 45XO/46X i(X)q) a...

Aim: To study the incidence of childhood thyrotoxicosis in five counties in central Sweden during 1990–2009 and to study the treatment outcome.Methods: Children below the age of 16 years diagnosed with thyrotoxicosis during the 20-years period and living in the study area were identified retrospectively. Data on the total number of children below 16 years of age living in the area during the study period was collected from the National Board of Stat...