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 ...

hrp0095p1-341 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Proposal of a diagnostic flow-chart for the diagnosis of central precocious puberty (CPP) in females

Baronio Federico , Ortolano Rita , Candela Egidio , Bernardini Luca , Cassio Alessandra

Introduction: in females with precocious thelarche (PT) (< 8 years), elevation of morning luteinizing hormone levels (mLH) may be indicative of pubertal activation of the pituitary gonadal axis. However, this approach could not be satisfactory in real life management of PT due to the risk of reduced specificity and sensitivity of the mLH thresholds. We propose a diagnostic flow-chart based on basal and stimulated gonadotrophins integrated with bone age and ...

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 AddisonÂ’s disease (AD); however, other endocrine and non-endocrine components may occur with a different prevalen...

hrp0086p1-p364 | Gonads &amp; 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...

hrp0089p2-p033 | Adrenals and HPA Axis P2 | ESPE2018

Quantitative Ultrasound Evaluation in a Cohort of 43 Young Adults with Classical CAH due to 21-Hydroxylase Deficiency (21OHD): Is Bone Mineral Quality Impaired?

Baronio Federico , Balsamo Antonio , Ortolano Rita , Massaccesi Nicoletta , Bettocchi Ilaria , Zioutas Maximiliano , Maltoni Giulio , Zucchini Stefano , Cassio Alessandra

Background: In young adults patients (pts) with CAH due to 21OHD few and conflicting data have been reported on bone mineral quality (BMQ) evaluated by quantitative ultrasound (QUS).Objective and hypotheses: To evaluate the bone mineral status by QUS variables assessed at proximal phalanges of the hand in a cohort of young adults with classical CAH due to 21OHD and the possible associations with their clinical and metabolic features.<p class="abstext...

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...

hrp0094p1-194 | Thyroid B | ESPE2021

Role of Next Generation Sequencing in the etiological diagnosis of congenital hypothyroidism with gland in situ

Di Natale Valeria , Ortolano Rita , Menabo Soara , Bettocchi Ilaria , Marzatico Alice , Scozzarella Andrea , Ferrari Simona , Pession Andrea , Cassio Alessandra ,

The pathogenetic role of genetic factors in congenital hypothyroidism (CH) is now widely known. The constant evolution of diagnostic methods in the field of medical genetics provides the opportunity to obtain an etiological diagnosis in CH patients with genetic defects in candidate genes. We performed genetic analysis by Next Generation Sequencing (NGS) of 18 candidate genes (DUOX2, DUOXA2, FOXE1, GLIS3, IGSF1, IYD, NKX2-1, NKX2-5, PAX8, SLC16A2, SLC26A4, SLC5A5, TG, THRA,...

hrp0089p1-p253 | Thyroid P1 | ESPE2018

Long Term Comparison between Liquid and Tablet Formulations of L-Thyroxine (L-T4) in the Treatment of Congenital Hypothyroidism (CH)

Vigone Maria Cristina , Ortolano Rita , Vincenzi Gaia , Pozzi Clara , Ratti Micol , Assirelli Valentina , Vissani Sofia , Cavarzere Paolo , Mussa Alessandro , Gastaldi Roberto , Mase Raffaella Di , Street Maria Elisabeth , Trombatore Jessica , Weber Giovanna , Cassio Alessandra

Introduction: Few studies have been published comparing the liquid and tablet formulations of L-T4 in pediatric patients, with a short follow-up period. Both formulations seemed to produce a rapid normalization of thyroid fuction with a tendency of a greater TSH inhibition in children taking the L-T4 liquid drops. The aim of our study is to compare the long-term effectiveness and saftey of both liquid and tablet L-T4 therapy in CH patients up to 3 years old via a multicenter s...

hrp0095p1-413 | Adrenals and HPA Axis | ESPE2022

Incidence and severity of Coronavirus Disease 2019 (COVID-19) in children with primary and secondary adrenal insufficiency during the pandemic in Italy

Moracas Cristina , Russo Gianni , Baronio Federico , Ortolano Rita , Rita Stancampiano Marianna , Cavarzere Paolo , Zoller Thomas , Longhi Silvia , Felicia Faienza Maria , Patti Giuseppa , Elisabeth Street Maria , Guzzetti Chiara , Valenzise Mariella , Giavoli Claudia , Salerno Mariacarolina , Capalbo Donatella

Background: Adrenal insufficiency (AI) is a rare condition caused by an inadequate production of glucocorticoids. Preliminary data in adults suggest that AI could be associated with an increased susceptibility to infections; moreover, AI patients are at risk to develop a severe course of infectious diseases and to experience a life-threatening adrenal crisis. The aim of our study is to evaluate the severity and the outcome of COVID-19 in pediatric AI patients ...