hrp0092p2-227 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Screening of Central Precocious Puberty (CPP) in Females: Efficacy of Morning Unstimulated Luteinizing Hormone (mLH) Levels

Baronio Federico , Ortolano Rita , Tonti Giacomo , Vestrucci Benedetta , Cassio Alessandra

Introduction: The gonadotropin releasing hormone stimulation test (GnRHST) is commonly used to screen CPP. Some recent studies reported that morning unstimulated luteinizing hormone levels may be sufficient to discriminate pubertal from prepubertal children. The aim of this study is to evaluate the clinical efficacy of mLH to screen CPP in femalesPatients and Methods: We retrospectively studied the clinical and hormonal ...

hrp0092p2-92 | Diabetes and Insulin | ESPE2019

An Impaired Lipid Profile is a Sign of Reduced Insulin Sensitivity in Children and Adolescents at Type 1 Diabetes Onset

Maltoni Giulio , Zucchini Stefano , Zioutas Maximiliano , Di Natale Valeria , Cassio Alessandra

At type 1 diabetes (T1D) onset, international guidelines reccommend a starting subcutaneous insulin dose widely ranging from 0,5 to 1 u/kg/day. In fact, many factors such as age, pubertal stage and the severity of ketoacidosis, may influence insulin sensitivity. However, it is a common experience that many subjects may require a higher insulin daily dose than expected, with the subsequent need of longer time to achieve stable blood glucose values and the extension of days of h...

hrp0089p3-p267 | Multisystem Endocrine Disorders P3 | ESPE2018

Unusual Clinical Presentation of Autoimmune Polyendocrinopathy Type 1

Baronio Federico , Ortolano Rita , Ferrari Simona , Cassio Alessandra , Maltoni Giulio , Tonti Giacomo , Balsamo Antonio

Background: Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) or autoimmune polyendocrinopathy type 1 (APS-1) is a rare monogenic autosomal recessive disease due to pathogenic variants in the AIRE gene. APECED usually begins during early childhood with chronic mucocutaneous candidiasis (CMC), followed by hypopathyroidism (HP) and Addison’s disease (AD); however, other endocrine and non-endocrine components may occur with a different prevalen...

hrp0086p1-p364 | Gonads & DSD P1 | ESPE2016

Genotyping Patients with Differences of Sex Development: 25 Years of Investigation of an Italian Population of 308 Cases (194 46,XY and 114 46,XX)

Baldazzi Lilia , Menabo Soara , Baronio Federico , Ortolano Rita , Cassio Alessandra , Mazzanti Laura , Balsamo Antonio

Background: Differences of sex development (DSDs) (conditions with atypical development of chromosomal, gonadal or anatomic sex) are classified into three groups: sex chromosome DSD, 46,XYDSD and 46,XX DSD. Around 1 newborn in 5000 presents ambiguous genitalia with a major challenge for male or female assignment. The identification of a genetic cause can contribute to a correct diagnosis and to optimize both management and genetic counselling.<p class="abs...

hrp0084p3-631 | Autoimmune | ESPE2015

Oocyte Cryopreservation in a Patient with Premature Ovarian Failure due to Autoimmune Polyendocrine Syndrome Type 2

Balsamo Claudia , Porcu Eleonora , Baronio Federico , Forchielli Luisa , Bazzocchi Antonia , Mazzanti Laura , Cassio Alessandra

Background: Autoimmune polyendocrine syndrome type 2 (APS2) is a complex disorder characterised by the obligatory occurrence of Addison disease in combination with thyroid autoimmune disorder and/or type 1 diabetes. APS 2 is the most common autoimmune polyendocrine syndrome and is primarily manifest in adult age. Premature ovarian failure (POF) is defined as sustained amenorrhea before the age of 40 years, FSH levels higher than 40 UI/l and hypoestrogenism associated with infe...

hrp0092p1-111 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

PROKR2 in Girls with Idiopathic Central Precocious Puberty

Grandone Anna , Luongo Caterina , Cassio Alessandra , Salerno Mariacarolina , Tornese Gianluca , Festa Adalgisa , del Giudice Emanuele Miraglia , Cirillo Grazia

Introduction: PROKR2 is a 384-amino acid G-protein-coupled receptors (GPCR) that regulates GnRH secretion in the hypothalamus. PROKR2 mutations have been described as cause of a certain percentage of of hypogonadotropic hypogonadism and Kallmann syndrome.In 2017 a heterozygous frameshift gain of function mutation of PROKR2 was identified in a 3.5-year-old girl with central precocious puberty (CPP).The aim of our st...

hrp0086p1-p921 | Thyroid P1 | ESPE2016

Differentiated Thyroid Cancer: Onset and Outcome in a Pediatric Population with and without Risk Factors

Baronio Federico , Monari Fabio , Ortolano Rita , Zagni Paolo , Rizzello Angela , Bettocchi Ilaria , Saggese Domenico , Pession Andrea , Cassio Alessandra

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...

hrp0082p2-d2-579 | Sex Development (1) | ESPE2014

Mosaicism: Study of Nine Patients

Mazzanti Laura , Baronio Federico , Ortolano Rita , Scarano Emanuela , Tamburrino Federica , Colangiulo Angela , Bettocchi Ilaria , Cassio Alessandra , Balsamo Antonio

Background: The isodicentric Y (idic Y) is one of the most common aberrations of the Y chromosome. Most patients (pts) are chromosomal mosaics, including 45,X cell line.Objective and hypotheses: Our aim is to describe clinical and molecular features of our 45,X/46,Xidic(Y) cases.Method: We retrospectively evaluate the clinical description of nine cases (six females, one male, two with ambiguous genitalia) with mosaic karyotype 45,X...

hrp0084fc13.4 | Thyroid | ESPE2015

Effects of Initial Levothyroxine Dose on Growth and Neurodevelopmental Outcomes During the First Year of Life in Children with Congenital Hypothyroidism

Esposito Andrea , D'Onofrio Gianluca , Cassio Alessandra , Corrias Andrea , Gastaldi Roberto , Vigone Maria Cristina , Wasniewska Malgorzata Gabriela , Weber Giovanna , Salerno Mariacarolina

Background: An important issue in the management of congenital hypothyroidism (CH) is the best initial dose of levothyroxine (L-T4) in order to achieve optimal neurocognitive outcomes. Both European and American guidelines suggest an initial dose of 10–15 μg/kg per die but trials on long-term effects of different doses within this range are lacking.Objective and hypotheses: This was a multicenter randomized trial to ev...

hrp0094p1-85 | Pituitary A | ESPE2021

Auxological and endocrine aspects in pediatric patients with type 1 Narcolepsy. Results of long-term follow-up in a pediatric endocrinology center

Assirelli Valentina , Casale Sara , Pizza Fabio , Baronio Federico , Donato Giulio Di , Candela Egidio , Balsamo Antonio , Plazzi Giuseppe , Cassio Alessandra ,

Introduction: Type 1 Narcolepsy is a rare pediatric condition characterized by central hypersomnia secondary to hypocretin deficiency. It can also involve the neuroendocrine axis, in particular determining obesity and central precocious puberty (CPP).Objectives: The primary aim of this study is the evaluation of endocrine and auxological aspects at diagnosis and during follow-up in children affected with T1N, in treatmen...