hrp0086fc14.1 | Growth : Mechanisms | ESPE2016

Clinical Characterization of Children with Autosomal Dominant Short Stature due to Aggrecan Mutations Broadens the Phenotypic Spectrum

Gkourogianni Alexandra , Andrew Melissa , Crocker Melissa , Dunbar Nancy , Jorge Alexander , Lafranchi Stephen , Lalani Seema , Lebl Jan , Lin Lynda , Los Evan , Newbern Dorothee , Nowak Catherine , Olson Micah , Popovic Jadranka , Pruhova Stepanka , Quintos Jose Bernardo , Sentchordi Lucia , Baron Jeffrey , Nilsson Ola , Dauber Andrew

Background: Heterozygous mutations in the Aggrecan gene (ACAN) cause autosomal dominant short stature with bone age (BA) acceleration, and premature growth cessation.Objective and methods: To characterize the phenotypic spectrum, associated conditions and describe response to growth-promoting therapies, detailed clinical evaluation of 73 mutation positive individuals from 16 families different families with heterozygous ACAN mutations was perfor...

hrp0097p1-323 | Growth and Syndromes | ESPE2023

A systematic review of core outcomes reported in clinical trials of growth hormone therapy in children with growth hormone deficiency

Tseretopoulou Xanthippi , Lucas-Herald Angela , Chen Jiajia , Bachega Tania , Charmandari Evangelia , Choi Jin-Ho , Dou Xinyu , Gong Chunxiu , Hamza Rasha , Harvey Jamie , R. Hoffman Andrew , Horikawa Reiko , Johannsson Gudmundur , Jorge Alexander , S. Miller Bradley , Roehrich Sebastian , Sävendahl Lars , Vitali Diana , Wajnrajch Michael , Ching Chen Suet , Faisal Ahmed Syed

Introduction: Although the safety and effectiveness of recombinant human growth hormone therapy (rhGH) has been reported for several years, the level of consensus on the outcomes that should be reported is unclear. The aim of this systematic review is to study the frequency of reporting of these outcomes in children with GH deficiency (GHD).Methods: A systematic review was performed in Medline, Embase, Cochrane Central R...

hrp0084p3-899 | Fat | ESPE2015

The Influence of Physical Activity and Physical Fitness in the Metabolic Profile and Microcirculation of Eutrophic, Overweight and Obese Children 5–12 Years of Age

da Penha Jociene Terra , Gazolla Fernanda Mussi , Carvalho Cecilia Noronha de Miranda , Madeira Isabel Rey , Rodrigues Jr Flavio , Machado Elisabeth de Amorim , Sicuro Fernando Lencastre , Farinatti Paulo de Tarso Veras , Collett-Solberg Paulo Ferrez

Background: Obesity is a worldwide epidemic affecting adults and children. Social changes throughout history have contributed to modifications in nutrition and physical activity levels. These changes in lifestyle affected health, increasing the number of metabolic and cardiovascular diseases. Obese children already have a low grade systemic inflammation as well as markers of increased cardiovascular risk. The endothelial function is an important and early marker of atheroscler...

hrp0089p3-p019 | Adrenals and HPA Axis P3 | ESPE2018

Erythrocytosis as First Manifestation of Adrenal Mass

Valenzise Mariella , Cannavo Laura , Zirilli Giuseppina , Iaria Graziella , Lima Mario

Background: Erythrocytosis is characterized by increased number of red blood cells. Primary form is also known as polycythemia vera, while secondary forms can be due to several causes, among which hyperandrogenism. Although the association of severe hyperandrogenism and polyglobulia is known, literature data concerning this comorbidity are overall scanty, and completely lacking in pediatric age.Case report: We report the history of a 14 years-old girl ad...

hrp0094p2-219 | Fat, metabolism and obesity | ESPE2021

What do lipids tell us about the pandemic?

Campagnoli Myrna P , Lima Eloise M R , Cavalli Luana ,

The pandemic has changed habits in families around the world. Eating habits and physical activity were directly impacted by social distance. The first year of the pandemic left its mark on children’s health. The purpose of this analysis was to evaluate the relationship between the first year of the pandemic and the serum lipid profile in children who underwent lab tests in a private laboratory in Curitiba-PR.Methods: Observational a...

hrp0098p1-271 | Pituitary, Neuroendocrinology and Puberty 4 | ESPE2024

The Use Of GloBE-Reg As A Global Platform For Performing Safety & Efficacy Studies Of rhGH Therapy

Alimussina Malika , Bryce Jillian , Chen Minglu , Koley Sanhita , E Al-Agha Abdulmoein , Amin Nadia , Atapattu Navoda , C Chan Kate , Chen Jiajia , Ki Chung Ying , Deyanova Yana , Fu Antony , Gong Chunxiu , Iotova Violeta , Janus Dominika , AL Jorge Alexander , Markosyan Renata , Maniatis Aristides , Seneviratne Sumudu , M Shaikh Guftar , Shepherd Sheila , JW Tack Lloyd , Wasniewska Malgorzata , WC Wong Sammy , Yu Wai Wai , Ching Chen Suet , Faisal Ahmed S

Introduction: The Global Registry For Novel Therapies In Rare Bone & Endocrine Conditions (GloBE-Reg, https://globe-reg.net/) project was launched in 2022 with the aim of supporting studies that focus on effectiveness and long-term safety of specific therapies. The project’s initial focus has been on recombinant human growth hormone therapy (rhGH) given that there are existing gaps in knowledge with the introdu...

hrp0094p1-44 | Sex Endocrinology and Gonads A | ESPE2021

Adolescents and young adult men with non-syndromic hypospadias: testicular function and in-depth genetic screening

Tack Lloyd , Spinoit Anne-Francoise , Riedl Stefan , Springer Alexander , Tonnhofer Ursula , Hiess Manuela , Weninger Julia , Mahmoud Ahmed , Tilleman Kelly , Laecke Erik Van , Hoebeke Piet , Juul Anders , Albrethsen Jakob , De Baere Elfride , Verdin Hannah , Cools Martine ,

Background: Hypospadias affects approximately 1/200 newborn males. Based on the testicular dysgenesis syndrome hypothesis, some may be suspected of having persistent testicular dysfunction later in life. Few clinical data currently support this hypothesis.Methods: Cross-sectional assessment of hypospadias cases (n = 193) and controls (n = 50), aged 16-21 years, recruited at Ghent University Hospital and...

hrp0098fc8.3 | Adrenals and HPA Axis 2 | ESPE2024

Insight into the role of TXNRD2 in steroidogenesis through a novel homozygous TXNRD2 splice variant

Brachet Cecile , Laemmle Alexander , Cools Martine , Sauter Kay-Sara , De Baere Elfride , Vanlander Arnaud , V. Pandey Amit , du Toit Therina , D. Voegel Clarissa , Heinrichs Claudine , Verdin Hannah , E. Flück Christa

Objective: Adrenal cortisol production occurs through a biosynthetic pathway which depends on NADH and NADPH for energy supply. The mitochondrial respiratory chain and the reactive oxygen species (ROS) detoxification system are therefore important for steroidogenesis. Mitochondrial dysfunction leading to oxidative stress has been implicated in the pathogenesis of several adrenal conditions. Nonetheless, only very few patients with variants in one gene of the R...

hrp0092p3-323 | Late Breaking Abstracts | ESPE2019

De Novo PPM1D Mutation in a Patient with Growth Hormone Deficiency: A Case Report

Yuan Yuan , Shufang Liu

Growth hormone deficiency (GHD) is a relatively rare cause for short stature resulting from insufficient secretion of growth hormone (GH). With complicated etiology, GHD can coexist in numerous syndromes or disorders such as Turner Syndrome. So, it is necessary to take genetic analysis to patients with GHD especially those perform various phenotypes. A 9.5 years old boy complained of short stature was diagnosed with GHD by height velocity (HV) <5 cm/year, delayed bone age ...

hrp0082p1-d2-213 | Reproduction (1) | ESPE2014

The Association of Moebius Syndrome and Kallman Syndrome is Due to a Specific Mutation of TUBB3

Amouyal Melanie , Bouvagnet Patrice , Rochette Galliane , de Roux Nicolas

Background: Between the 6000 monogenic disorders, only few are due to a single mutation. Recently, a specific mutation has been described in TUBB3, encoding tubulin beta 3, in the association of Moebius syndrome (MS) and Kallmann syndrome (KS). MS is a congenital paralysis of eye and face’s muscles and can be caused by mutations of TUBB3. KS combines hypogonadotropic hypogonadism and anosmia.Objective and hypotheses: The combination of these two syn...