hrp0094p2-293 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Effects of GH replacement therapy on body composition and muscle health in children and adolescents with GH deficiency: one-year prospective case-control study.

Improda Nicola , Capalbo Donatella , Di Mase Raffaella , Di Pinto Rosita , Alicante Paola , Scalfi Luca , Salerno Mariacarolina ,

Background: The effects of GH deficiency (GHD) and GH replacement therapy (GHRT) on body composition and functional measures of physical fitness are largely unknown particularly in children.Study aim: To evaluate body composition, muscular strength and flexibility, and exercise tolerance in GHD children at baseline and after one-year GHRT.Patients and methods: We enrolled 19 children and adolescents with untreated ...

hrp0097t9 | Section | ESPE2023

Early metabolic risk factors in children with 21 Hydroxylase Deficiency (21OHD): a case-control study

Apuzzo Diletta , Moracas Cristina , Izzo Anna , Di Mase Raffaella , Lorello Paola , Capalbo Donatella , Salerno Mariacarolina

Aims: The balance between hypo/hypercortisolism and hypo/hyperandrogenism is the main challenge in clinical management of patients with 21-hydroxylase deficiency (21OH-D). In adults, it has been established that both over and under-treatment might lead to the development cardiovascular risk factors. To date, only a few studies have addressed weather this risk begins in childhood. Aim of our study is to define the presence of early metabolic risk factors preval...

hrp0097t15 | Section | ESPE2023

Cognitive evaluation in children with 21 Hydroxylase Deficiency (21-OHD)

Moracas Cristina , Lorenzo Ivan , Apuzzo Diletta , Santamaria Fabiana , Amitrano Marianna , Salerno Mariacarolina , Capalbo Donatella

Objective: The balance between hypocortisolism and hyperandrogenism in patients with classic congenital adrenal hyperplasia (CAH) treated with lifelong glucocorticoid (GC) is challenging. Glucocorticoid receptors are widely expressed in the brain; therefore it has been hypothesized that alterations in the exposure to glucocorticoids may affect cognitive ability in individuals with CAH. Only few studies have addressed this issue in children and results are scan...

hrp0089p3-p136 | Fat, Metabolism and Obesity P3 | ESPE2018

Proximal Microdelection 16p11.2 Syndrome

Leo Francesco , Madeo Simona Filomena , Baraldi Alessandro , Predieri Barbara , Stanghellini Ilaria , Calabrese Olga , Iughetti Lorenzo

Clinical history and symptoms: XX, 9.37 years, was referred to our Clinic for obesity and psycho-motor delay. Family history: Fibromyalgic mother, two maternal cousins with psycho-motor delay, paternal uncle with epilepsy and intellectual disability. Born at term from caesarean section for placental detachment after physiological pregnancy (birth weight g 1900, SGA). In the first years of life she had psychomotor retardation, episodes of affective spasms, nocturnal enuresis, a...

hrp0089p3-p157 | Fat, Metabolism and Obesity P3 | ESPE2018

A Not So ‘Simple Obesity’

Poluzzi Silvia , Madeo Simona Filomena , Rossi Gloria , Bruzzi Patrizia , Stanghellini Ilaria , Calabrese Olga , Iughetti Lorenzo

Childhood obesity is the consequence of a complex interaction among several factors: environment, genetics, endocrine disorders, medications and other conditions. Genetic factors are described to be causal factors in up to 30–50% of overweight conditions. Although polygenetic obesity is by far the most commonly observed, several obesity related syndromes associated with single gene defects have been identified.Case presentation: A three year old gir...

hrp0089p3-p346 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

Ovotesticular Disorder of Sexual Development: 31 Cases Followed-up in a Single-Center in Brazil

Melardi Julia , Cunha Diego , Ferreira Marianna , Brigatti Nathalia , Carvalho Filomena , Cominato Louise , Steinmetz Leandra , Damiani Durval

The Ovotesticular Disorder of Sexual Development (OT DSD) is a rare condition characterized by histologic demonstration of both ovarian and testicular tissue in the same individual. Descriptions in literature usually have small samples and do not include patient evolution data. The aim of this study is to describe clinical, biochemical and histological findings, as well as long-term outcomes (including onset and progression of puberty) in patients with OT DSD, accompanied betw...

hrp0086p1-p487 | Fat Metabolism and Obesity P1 | ESPE2016

Hypercholesterolemia in Childhood: How the Response to Diet could Lead to Diagnosis. Lesson from a Case-Report

Bruzzi Patrizia , Predieri Barbara , Filomena Madeo Simona , Rabacchi Claudio , Tarugi Patrizia , Calandra Sebastiano , Iughetti Lorenzo

Background: Sitosterolemia is a rare autosomal recessive disorder characterized by intestinal hyperabsorption and decreased biliary excretion of dietary plant sterol, due to mutations in adenosine-triphosphate (ATP)-binding-cassette (ABC) transporter family (ABCG8 and ABCG5).Case report: A 7.86 years old boy was referred to the Childhood Lipid Clinic due to incidental finding of hypercholesterolemia: total cholesterol 524 mg/dl (13.54 mmol/l), LDL-choles...

hrp0082p1-d1-240 | Thyroid | ESPE2014

A Novel Mutation in the TITF1 Gene in a Child with Benign Hereditary Chorea

Patianna Viviana Dora , Predieri Barbara , Garavelli Livia , Fusco Carlo , Madeo Simona Filomena , Bruzzi Patrizia , Iughetti Lorenzo

Introduction: Benign hereditary chorea (BHC) is a rare, autosomal dominant disorder, described as a non-progressive chorea of early onset. BHC can present as single neurologic disorder (13%), brain and thyroid disease (30%) or ‘brain–lung–thyroid syndrome’ with congenital hypothyroidism and neonatal respiratory distress syndrome (50%).Case Report: 18 months old infant was admitted to the Endocrinology Outpatient Clinic with motor dela...

hrp0098p2-255 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2024

Exploring the Clinical Implications of a LARS2 Gene Mutation in a Female Adolescent with Perrault Syndrome

Yang Tong , Ferreira Madalena , Sousa Filomena , Amorim Marta , Lopes Lurdes , Galhardo Júlia

Introduction: Perrault syndrome is a rare autosomal recessive (AR) disorder (<1:1.000.000). Mutations in several genes, including HSD17B4, HARS2, CLPP, LARS2, TWNK, and ERAL1 have been associated with it, reflecting the genetic and clinical heterogeneity of this condition. It is characterized by bilateral mild to severe sensorineural hearing loss (SNHL) in both sexes and gonadal dysgenesis in 46,XX karyotype females. Ovarian dysfunction ranges from underdev...

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...