hrp0097p2-95 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Short-term impact of therapy with GNRH analogues on the growth of female children with central precocious puberty: a retrospective study of the last 20 years

Luísa de Carvalho Ana , Carvalho Adriana , Martins Sofia , Antunes Ana , Miguel Gomes Maria

Introduction: Since the 1980s, long-acting gonadotropin-releasing hormone analogues (GnRHa) have been the standard treatment for central precocious puberty (CPP).Aims: To evaluate the short-term response (at 6 and 12 months) of treatment with GnRHa in female children diagnosed with CPP, regarding growth, bone maturation (Greulich and Pyle method), predicted adult height (PAH) and pubertal development (Tanner stages)....

hrp0097p1-507 | Growth and Syndromes | ESPE2023

Identification and characterisation of novel HMGA2 variants expand the clinical spectrum of Silver-Russell syndrome

Vickram Maharaj Avinaash , Cottrell Emily , Thanasupawat Thatchawan , D. Joustra Sjoerd , Triggs-Raine Barbara , Fujimoto Masanobu , G. Kant Sarina , van der Kaay Danielle , Clement-de Boers Agnes , Brooks A.S. , Amador Aguirre Gabriel , Martín del Estal Irene , Inmaculada Castilla de Cortázar Larrea María , Massoud Ahmed , A. Van Duyvenvoorde Hermine , De Bruin Christiaan , Hwa Vivian , Klonisch Thomas , Hombach-Klonisch Sabine , L. Storr Helen

Background: Silver Russell syndrome (SRS) is a heterogeneous disorder characterised by intrauterine and post-natal growth retardation, relative macrocephaly, protruding forehead, feeding difficulties and body asymmetry. Variants in HMGA2 are a rare cause of SRS and despite strong evidence for the crucial role of HMGA2 in growth regulation, its functional role in human linear growth is unclear.Methods: Patients w...

hrp0092p1-331 | Diabetes and Insulin (2) | ESPE2019

Design and Implementation of an Integral System of Clinical Follow-Up and Glucose Monitoring in Children Affected of Type 1 Diabetes, in Andalusia

Hernández-Soto Rocío , Luque-Romero Luis , Alcaide-Gantes Alvaro , Mayoral-Sanchez Eduardo , Romero M del Mar , Dube Juan De Dios , Llamas-Porras Salvador , Sanchez-Laguna Francisco , Antonio Gomez-Palomeque Juan , Martinez-Brocca Asuncion

Introduction: The incorporation of the interstitial glucose monitoring system, in the offer of services in the Andalusian Public Health System (APHS), means an opportunity for the implementation of a model of integration, and follow-up of glucose data, and the evaluation of their impact in health results.Purpose (Aim): The design and implantation of a model that allows the identification, registration of clinical data, i...

hrp0089p2-p051 | Bone, Growth Plate & Mineral Metabolism P2 | ESPE2018

Bone Marrow Adiposity and IGF System in Obese Children and Adolescents

Darrigo Emiliana , Sader Soraya , Siena Thais , Nogueira-Barbosa Marcelo , Elias Jr. Jorge , Custodio Rodrigo , Ferraz Ivan , Liberatore Jr. Raphael , Del Ciampo Luiz , Jose Albuquerque de Paula Francisco , Martinelli Jr Carlos

Background: Body weight has a close correlation with bone mass in humans and high fracture rates has been reported in both obese and underweighted individuals. It is not clear the role of bone marrow adiposity (BMA) and the IGF system in this process.Aim: The aim of this study was to analyze bone composition and BMA in obese and non-obese children/adolescents and correlate them with the expression of the IGF type-1 receptor (IGF1R) in peripheral lymphocy...

hrp0084p3-1038 | Growth | ESPE2015

Short Stature in a Rare 15q Duplication – is hGH Treatment Beneficial?

Manolachie Adina , Rusu Cristina , Braha Elena , Crumpei Iulia , Belceanu Alina , Puiu Mirela , Anton Mihaela , Leustean Letitia , Vulpoi Carmen

Introduction: Distal chromosome 15 duplication is a very rare genetic disease, first described in 1974 by Fujimoto et al. The symptoms and physical findings include prenatal and/or postnatal growth retardation, mental retardation, poor speaking abilities, asymmetrical dysmorphic facial features, malformations of the fingers and/or toes and sometimes heart conditions.Case report: We report a case of a 2 years 5 months old girl, born with SGA (uterine grow...

hrp0086p2-p584 | Perinatal Endocrinology P2 | ESPE2016

A Unique IL2RA Mutation Presenting as Neonatal Diabetes, Congenital Hypothyroidism and Sepsis

Sri Nagesh V. , Hattersley Andrew , Ellard Sian , De Franco Elisa , Flanagan Sarah , Naseem Altaf , Ahmed A. , Ahmed Tanveer , Venkateswarlu K.

Background: 16 year old female neonate presented with neonatal diabetes, congenital hypothyroidism and sepsis.Objective and hypotheses: To evaluate the neonate for a common cause of neonatal diabetes, congenital hypothyroidism and sepsis and to explore for the best modality of management, including a possible role for sulphonylureas.Method: The neonate born of 3rd degree consanguinity was admitted and started on insulin infusion an...

hrp0084p1-148 | Miscelleaneous | ESPE2015

The Analysis of Occurrence the Zinc Transporter Antibodies ZnT8 in Children with Graves’ Disease and Hashimoto’s Thyroiditis

Bossowski Artur , Borysewicz-Sanczyk Hanna , Bossowska Anna , Szalecki Mieczyslaw , Kucharska Anna , Pyrzak Beata , Walczak Mieczyslaw , Petriczko Elzbieta , Ziora Katarzyna , Del Pilar Larosa Maria , Chen Shu , Powell Michael , Furmaniak Jadwiga , Smith Bernard Rees

Introduction: Recent studies have revealed the presence of zinc and the expression of zinc transporter (ZnT) family members in most endocrine cell types. Moreover it was demonstrated that the ZnT family plays an important role in the synthesis and secretion of many hormones like insulin. We studied the prevalence of ZnT8 Ab in patients with autoimmune thyroid diseases (AITD).Material and methods: The study was performed in the group consisting of 20 Grav...

hrp0094ha1 | A Global Natural History Study of Fibrodysplasia Ossificans Progressiva (FOP): 36-Month Outcomes in Participants Aged <25 Years | ESPE2021

A Global Natural History Study of Fibrodysplasia Ossificans Progressiva (FOP): 36-Month Outcomes in Participants Aged <25 Years

Pignolo Robert J. , Baujat Genevieve , Brown Matthew A. , De Cunto Carmen L. , Hsiao Edward C. , Keen Richard , Al Mukaddam Mona , Le Quan Sang Kim-Hanh , Marino Rose , Houchard Aude , Kaplan Frederick S. ,

Background: FOP is an ultra-rare, severely disabling genetic disorder characterised by progressive heterotopic ossification (HO) following flare-ups. The median age at diagnosis is 5 years, and patients are managed by multiple specialties. No study to date has provided a longitudinal evaluation of FOP. Final data are presented for participants, aged <25 years, enrolled in the first 36-month, prospective, global natural history study of FOP (NCT02322255).</...

hrp0089p2-p126 | Fat, Metabolism and Obesity P2 | ESPE2018

Serum Calprotectin Level in Children: Marker of Obesity and Its Metabolic Complications

Calcaterra Valeria , Amici Mara De , Silvestri Annalisa De , Michev Alexandre , Montalbano Chiara , Regalbuto Corrado , Schiano Luca Maria , Cena Hellas , Larizza Daniela

Aim: Circulating levels of calprotectin have been reported in obesity-related chronic low-grade inflammation in adults, but has not been evaluated in pediatric population. We investigated serum calprotectin in overweight and obese children and its association with metabolic comorbidities.Methods: We enrolled 131 children (11.7±4.1 years). According to BMI, the subjects were divided into three groups: obese >95th percentile; overweight BMI 75th&#...

hrp0082p3-d1-925 | Puberty and Neuroendocrinology | ESPE2014

The Timing and Evolution of Puberty in a Sample of School-Aged Children in a Brazilian City

Feibelmann Taciana Carla Maia , da Silva Adriana Paula , Silva Daniela Cristina , de Resende Elisabete Aparecida Mantovani Rodrigues , Scatena Lucia Marina , de Fatima Borges Maria

Background: The beginning and evolution of physiological puberty may be occurring earlier, resulting in change in the age at which clinical investigation on precocious puberty must be conducted, as well as concerns regarding the possible deleterious effects of hormone exposure in a later stage of life.Objective and hypotheses: Assess age of beginning and evolution of puberty in boys and girls acknowledging the age of thelarche (T), menarche (M), period b...