hrp0097p1-571 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Early and long-term gender-affirming treatment does not alter final height in transgender youth

Ciancia Silvia , Klink Daniel , Craen Margarita , Cools Martine

Keywords: transgender, GnRH agonists, gender affirming hormones, final height, growth, pubertyBackground: Trans boys (TB) and trans girls (TG) who start medical gender-affirming treatment at Tanner stage 2-3 undergo early puberty suppression (ePS) with Gonadotropin-Releasing Hormone agonists (GnRHa) for several years and subsequently receive gender-affirming hormones (GAH), around 15-16 years. This treatment clearly inte...

hrp0089p2-p032 | Adrenals and HPA Axis P2 | ESPE2018

Adrenal Hypoplasia Seemingly First as a Primary Hypoaldosteronism

Iughetti Lorenzo , Lucaccioni Laura , Bruzzi Patrizia , Ciancia Silvia , Predieri Barbara , Roucher-Boulez Florence

Background: X-linked Congenital Adrenal Hypoplasia (AHC) is a rare cause of primary adrenal insufficiency due to mutations in NR0B1 gene, causing a loss of function of the nuclear receptor protein DAX-1. Adrenal insufficiency usually presents in the first two months of life, but sometimes can appear later in childhood. Hypogonadotropic Hypogonadism is often associated later in life and all patients develop azoospermia. We describe an unusual onset of AHC started with ...

hrp0089p2-p205 | Fetal, Neonatal Endocrinology and Metabolism P2 | ESPE2018

Auxological Catch Up Growth and Evaluation of Spontaneous Motility in the Term Newborn Small for Gestational Age Employing the Prechtl Assessment of General Movements

Lucaccioni Laura , Talucci Giovanna , Leo Francesco , Ciancia Silvia , Russo Giovanna , Ferrari Fabrizio , Iughetti Lorenzo

Introduction: Term newborns Small for Gestational Age (SGA) have an increased risk for minor neurological impairment at pre- and school age. The general movements (GMs) assessment, in particular at Fidgety (F+) age, has been increasingly used to predict neurological dysfunctions. Aim of our study was to evaluate, in a population of term newborn SGA (gestational age >37 weeks) the growth recovery, the presence of F+ at 3 months of age, and the neurological outcome at 2 year...

hrp0094fc10.1 | Thyroid | ESPE2021

Natural history of congenital hypothyroidism in the last two decades: what is changing? Experience of a single tertiary Italian paediatric centre.

Bruzzi Patrizia , Donini Valentina , Ciancia Silvia , Lucaccioni Laura , Predieri Barbara , Iughetti Lorenzo ,

Background and Aim: Congenital hypothyroidism (CH) is a well-known condition. Nevertheless, recent questions in clinical practice, especially in neonatal intensive care setting, prompted us to review the natural history of CH in our cohort.Methods: This is a retrospective, observational study collecting anamnestic, anthropometric (height SDS, BMI SDS), diagnostic (TSH, fT4, thyroid ultrasound) and therapeutic data (dose ...

hrp0094p2-21 | Adrenals and HPA Axis | ESPE2021

The reliability of Salivary Cortisol compared to Serum Cortisol for diagnosing adrenal insufficiency in the gold standard ACTH stimulation test in children

Ciancia Silvia , van den Berg Sjoerd A.A. , van den Akker Erica L.T. ,

Introduction: The gold standard for the diagnosis of adrenal insufficiency (AI) is the ACTH stimulation test. According to the guidelines approved by the European Endocrine Society, the ACTH stimulation test should be performed with the administration of the standard dose of i.v. Synachten® 250 µg for adults and children aged ≥ 2 years (infants should receive 15 µg/kg, children ≤ 2 years 125 µg). In many clinical settings a Syna...

hrp0094p2-310 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Incidental pituitary adenoma detection in two patients affected by Williams Syndrome: only a coincidence?

Ciancia Silvia , Madeo Simona F. , Cattini Umberto , Bruzzi Patrizia , Lucaccioni Laura , Predieri Barbara , Iughetti Lorenzo ,

Case reports: Patient 1 was diagnosed with Williams Syndrome (WS) when she was 11 years-old. She presented typical facial features, mental retardation (IQ 34) and chronic constipation. Pregnancy and neonatal period were unremarkable. Her growth has always been satisfying. No cardiac defects were detected at echocardiogram. Cerebral MRI showed enlarged pituitary (height of 9 mm) in the contest of which a mass with suprasellar extension was detected. Thyroid and adrenal...

hrp0092t6 | Top 20 Poster | ESPE2019

Obesity in Pediatric Age: The Analysis of Genomic Rearrangements

Filomena Madeo Simona , Ciancia Silvia , Leo Francesco , Bruzzi Patrizia , Predieri Barbara , Stanghellini Ilaria , Calabrese Olga , Iughetti Lorenzo

Childhood obesity became a global plague: 9% of Italian children (17% of USA children) is obese and 21% is overweight. Nowadays only a small number of obese children undergoes genetic analysis, usually when obesity is associated with dysmorphic features. Our purpose was to identify genomic rearrangement causing obesity: we analyzed the DNA of 52 children by array-CGH (platform CytoScan-HD, Affymetrix). Patients included in our study were 29 males (55,8%) and 23...

hrp0092p1-185 | Diabetes and Insulin (1) | ESPE2019

Endothelial and Heart Dysfunction in Children and Adolescents with Type 1 Diabetes

Predieri Barbara , Lami Francesca , Cenciarelli Valentina , Ciancia Silvia , Righi Beatrice , Madeo Simona F. , Bruzzi Patrizia , Prampolini Beatrice , Iughetti Lorenzo

Background/Objectives: Type 1 diabetes (T1D) is an important risk factor for cardiovascular disease (CVD). Even if CVD become mainly manifest in adulthood, the process of atherosclerosis starts in childhood. Ultrasound is a reliable and noninvasive method for detecting early structural and functional atherosclerotic changes in arterial wall and heart. Aim of this study was to determine early ultrasound signs of atherosclerosis and of left ventricular (LV) syst...

hrp0094p1-129 | Growth A | ESPE2021

Computer-aided facial analysis as a tool to identify patients with Silver-Russell syndrome and Prader-Willi syndrome

Ciancia Silvia , Goedegebuure Wesley J. , Grootjen Lionne N. , Hokken-Koelega Anita C.S. , Kerkhof Gerthe F. , van der Kaay Danielle C. ,

Introduction: Genetic syndromes often show suggestive facial features that provide clues for the diagnosis. Considering the high number of genetic syndromes and the possible overlap of some features, memorizing facial gestalt is a challenging task for clinicians. DeepGestalt technology, and its app Face2Gene, has a growing impact on the diagnosis and management of genetic diseases by analyzing the features detected in one or more facial images of affected indi...

hrp0095p1-375 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Effects of long-term puberty suppression and gender-affirming hormones on body composition and metabolic profile in a preclinical mouse model and a cohort of transboys

Dubois Vanessa , Ciancia Silvia , Claessens Frank , Craen Margarita , El Kharraz Sara , Kim Nari , Klink Daniel , Sommers Vera , Vanderschueren Dirk , Cools Martine

Background: The increasing number of transgender adolescents presenting in early puberty requires to investigate the effects of long-term puberty suppression and gender-affirming hormones (GAH) on body composition and metabolism. Clinical studies have ethical and practical limitations. A preclinical mouse model may be helpful to gain mechanistic insights.Methods: Prepubertal (4week-old) female mice were treated with the ...