hrp0098t18 | Top 20 Posters | ESPE2024

DNA methylation level at five specific CG-sites within TRAK1 correlates with the neurocognitive profile in individuals with Klinefelter syndrome.

Bandsholm Leere Tallaksen Helene , B. Johannsen Emma , Berletch Joel , Deng Xinxian , Filippova Gala , H. Gravholt Claus , Disteche Christine , Just Jesper , Skakkebæk Anne

Background: Klinefelter syndrome (47,XXY; KS) influences neurodevelopment, resulting in a neurocognitive profile with a more pronounced impact on verbal IQ compared to performance IQ. Additionally, KS is linked to changes in the epigenome and transcriptome. The relation between these epigenetic and genetic changes and the neurocognitive phenotype has yet to be determined.Methods: We conducted a comprehensive and integrat...

hrp0095rfc10.2 | GH and IGFs | ESPE2022

Severe primary IGF1 deficiency diagnosed by a standardized IGF1/ IGFBP3 generation test : the Belgian experience

Ryckx Sofie , Derycke Christine , Anckaert Ellen , Beauloye Véronique , Beckers Dominique , Brachet Cécile , Den Brinker Marieke , De Waele Kathleen , Dotremont Hilde , Boros Emese , Klink Daniel , Lebrethon Marie-Christine , Lysy Philippe , Mouraux Thierry , Parent Anne-Simone , Rochtus Ann , van der Straaten Saskia , De Schepper Jean

Background/ Aim: Over the past 6 years, the IGF1/ IGFBP3 generation test (IGFGT) has been used in Belgium in a standardized form to identify children with severe primary IGF1 deficiency (SPIGFD). In this study, the discordance of the IGF1 and IGFBP3 responses during an IGFGT and the prevalence of SPIGFD were analyzed in a cohort of children with short stature (height SDS < - 2) and presenting with low (below lower reference limit) serum IGF1 level and norma...

hrp0095p1-102 | GH and IGFs | ESPE2022

Growth and Growth Delay in Children with Systemic Juvenile Idiopathic Arthritis: A Single Center Study

Cristina Maggio Maria , Genesia Alizzi Clotilde , Corsello Giovanni

Systemic Juvenile Idiopathic Arthritis (sJIA) is a chronic autoinflammatory disease, with significant complications that can give short-term and long-term disability with reduced quality of life. Growth delay and short stature are described in >40% of cases, with a complex pathogenesis. Chronic inflammation, long-term corticosteroids treatment, hepatic involvement, malnutrition decrease IGF-1 and GH biological effects. Corticosteroids inhibit growth velocity, bone maturatio...

hrp0095p1-142 | Multisystem Endocrine Disorders | ESPE2022

Two causes of short stature and delayed puberty in one patient: craniopharyngioma and celiac disease. A case report.

Simina MihutaMonica , Stoian Dana , Cepeha Cristina , Paul Corina

Introduction: Craniopharyngioma, a benign tumor, develops in the sellar/parasellar region. Diagnosis is usually late. Symptoms include severe headaches and vomiting, visual impairment, visual and olfactory hallucinations and at least one hormonal deficiency. Celiac disease is caused by an immune reaction triggered by gluten in the small intestine. Over time, due to inflammation, it causes malabsorbtion which can affect growth in children.<p class="abstext"...

hrp0092p2-192 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Shox-Haploinsufficiency Intra-Familial Phenotipic Variability and the Impact on Final Height: Report of a Pedigree

Maggio Maria Cristina , Mulè Flavia , Cardella Francesca , Corsello Giovanni

SHOX haploinsufficiency (SHOX-D) is a genetic cause of disharmonic short stature. However, the different impact on phenotype can show differences between patients with the same genotype.GH ameliorates final height, with significant differences between patients for the putative role of environmental factors who can influence growth.We describe the case of two sisters with SHOX-D (target height: 146.8 cm (-2.6SDS); mother: 146.5 cm; ...

hrp0092p2-225 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Unusual Presentation of McCune-Albright Syndrome in a 10-Year-Old Girl

Ciccone Sara , Bizzarri Carla , Cristina Matteoli Maria , Cappa Marco

Case report: A 10-year-old Italian girl presented with a painless, hard swelling in left fronto-orbital region noted two years earlier. She had no headache or other symptoms; ophthalmologic evaluation revealed no signs of intracranial hypertension; the visual field showed a reduced level of sensitivity in the upper sector of the left eye.Her previous medical history was not relevant except for a mild head injury reported two years earlier. The girl was a secon...

hrp0089p3-p245 | Growth &amp; Syndromes P3 | ESPE2018

Shox Haploinsufficiency in Short and Not Short Children: A Sigle Italian Cetre Data

Maggio Maria Cristina , Ragusa Saveria Sabrina , Miceli Roberto , Corsello Giovanni

SHOX haploinsufficiency (SHOX-D) is a cause of disharmonic short stature and a possible genetic cause of idiopathic short stature also in familial cases. We describe clinical, hormonal and genetic characteristics of patients with SHOX-D haploinsufficiency, followed and treated in the period 2014–2017, in a single Italian centre. The Rappold score was used to screen short children, to select those who needed a genetic analysis of SHOX gene by MLPA and sequencing. We select...

hrp0089p3-p372 | Thyroid P3 | ESPE2018

Dento - Maxillary and Periodontal Changes in Puberty/Adolescence in Subclinical Hypothyroidism of Autoimmune Cause

Circo Eduard , Gosu Cristina , Ibadula Seila , Circo Razvan

Introduction: The development of the dentomaxillary system in children involves a normal thyroid function. Juvenile hypothyroidism has different complications depending on the congenital or acquired nature of it.Objective: To identify periodontal changes under the conditions of chronic autoimmune thyroiditis and subclinical hypothyroidism.Material and method: The study group comprised 24 young patients, 15 girls and 9 boys (15.2&#1...

hrp0086p1-p830 | Syndromes: Mechanisms and Management P1 | ESPE2016

A Rare Case of Deletion in 2q24.1: Clinical Features and Response to Gh Hormone Treatment

Maggio Maria Cristina , Malacarne Michela , Vergara Beatrice , Corsello Giovanni

Background: Chromosomal imbalances are often due to sub microscopic deletions or duplications not evidenced by conventional cytogenetic methods.Objective and hypotheses: CGH array can help in the diagnosis of severe short stature, associated with mental retardation and dysmorphisms.Method: We describe the clinical case of a 13.1-year-old girl, born at 35 weeks, from a triplets pregnancy. She was 127.5 cm (<−5 SDS), 33 kg ...

hrp0082p1-d1-146 | Growth | ESPE2014

Analysis of GH Receptor Gene Expression in Idiopathic Tall Stature Children

Pagani Sara , Radetti Giorgio , Meazza Cristina , Bozzola Mauro

Background: Growth is a multifactorial process involving genetic, nutritional and other environmental determinants. Because of a major proportion of ultimate stature is dependent upon an intact GH and IGF1 axis, much attention has been devoted to abnormalities related to these growth factors and their signalling pathways.Objective and hypotheses: At the tissue level, the action of GH result from the interaction of GH with a specific cell surface GH recep...