hrp0084wg6.2 | Turner Syndrome | ESPE2015

The Challenges of Prenatal Diagnosis: The Experience of a Supportive Group for Parents of Children with TS

Foresti Maura

Background: Prenatal diagnostics (PND), as any achievement in genetic research, brings ethical and moral dilemmas that need to be a subject of reflection and debate in modern societies.Objective and hypotheses: Once the expecting parents have undergone PND, data about abnormalities confront them with moral dilemmas regarding the decision on the life or death of the unborn child, the responsibility for it, and possible suffering during its future life. Ps...

hrp0097rfc7.1 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2023

Penile width increases more clearly than penile length during minipuberty: a longitudinal study of 136 healthy infant boys

Mola Gylli , Siegfried Busch Alexander , Lindhardt Ljubicic Marie , N. Upners Emmie , Bistrup Fischer Margit , Juul Anders , P. Hagen Casper

Background: In minipuberty, the male hypothalamic-pituitary-gonadal (HPG) axis is transiently activated triggering a surge in reproductive hormones causing growth of the genitalia. Longitudinal individual growth of the infant penis during minipuberty and associations to the HPG axis and IGF-I have not been thoroughly assessed.Aim: To describe the development of penile length and width as well as their relation to serum c...

hrp0097p1-318 | Growth and Syndromes | ESPE2023

15-year experience with the IGF1 generation test in the Netherlands

Kruijsen Anne , de Groote Kirsten , Punt Lauren , van Trotsenburg Paul , Pijnenburg-Kleizen Karijn , Bocco Gianni , Berkenbosch Lizanne , van Setten Petra , Claahsen - van der Grinten Hedi , van der Kaay Danielle , Schott Nina , van Tellingen Vera , van Mill Edgar , van der Heyden Josine , Brandsma Annelies , Hendriks Yvonne , Losekoot Monique , van Duyvenvoorde Hermine , Hokken-Koelega Anita , Renes Judith , Maarten Wit Jan , de Bruin Christiaan , Joustra Sjoerd

Introduction: Among children with short stature, some show persistent IGF-I levels <-2.0 SDS despite a normal growth hormone (GH) response in a stimulation test. This may be caused by conditions that could benefit from recombinant human GH (rhGH) therapy (e.g. GH neurosecretory dysfunction, bioinactive GH, partial GH insensitivity). Therefore, the IGF-I generation test (IGFIGT) was implemented in 2006 using a national, standardized protocol. Children with a...

hrp0097p2-271 | Late Breaking | ESPE2023

Craniosynostosis in Patients With X-Linked Hypophosphatemia: a monocentric experience

Grandone Anna , Luongo Caterina , Aiello Francesca , Romano Francesca , Miraglia Del Giudice Emanuele , Aliberti Ferdinando

Introduction: X-linked hypophosphatemic rickets (XLHR) represents the most common form of genetic hypophosphatemia and causes rickets in children because of increased FGF23 secretion and renal phosphate wasting. Even though cranial vault an craniovertebral anomalies of potential neurosurgical interest, namely early closure of the cranial sutures and Chiari type I malformation (CM-I), have been observed in children with XLH, their actual incidence and character...

hrp0092pl3 | Glucocorticoid Rhythms, Stress Response and the Brain from Neonates to Adults | ESPE2019

Glucocorticoid Rhythms, Stress Response and the Brain from Neonates to Adults

Lightman Stafford

Biological systems are invariably dynamic, with both stochastic interactions and deterministic processes across multiple timescales ensuring the maintenance of homeostatic regulation and allowing us to adapt to changes in both internal and external environments. It is no surprise therefore that the stress responsive hypothalamic-pituitary-adrenal (HPA) axis shows multiple levels of regulation which come together to regulate oscillating levels of glucocorticoid secretion with b...

hrp0092na2 | Genomic Imprinting Analysis in Clinical Practice | ESPE2019

Genomic Imprinting Analysis in Clinical Practice

Mackay Deborah

Genomic imprints in humans are epigenetic marks inscribed upon our genomes from the earliest stages of our development, forming a permanent memory of our parental origin. Approximately 1% of human genes are imprinted, with expression that is permanently restricted to either the paternal or the maternal DNA. Genetic or epigenetic errors of imprinting cause a range of imprinting disorders, each with distinctive effects upon growth, development, metabolism and behaviour.<...

hrp0092yi1.2 | (1) | ESPE2019

Early Life Events and Postnatal Effects from Infancy to Childhood

Kiess Wieland

Early life events can profoundly affect an individual's metabolic phenotype, inducing adaptive responses that may be protective in utero but potentially disadvantageous for long-term health. Indeed, environmental cues during sensitive windows of development may result in altered growth and lead to an increased risk of cardiovascular and metabolic alterations later in life. In this talk, I will discuss several models of exposure to early life events, which were the top...

hrp0092p1-217 | GH and IGFs (1) | ESPE2019

Association Between Nonalcoholic Fatty Liver Disease and Growth Hormone Deficiency in Patients with Childhood-Onset Hypopituitarism

Kim Se Jin , Kim Heung Sik , Lee Ga Hyun , Kang Seok Jin

Background & Aims: Although, there has been reports demonstrating association between adult-onset hypopituitarism and development of nonalcoholic fatty liver disease (NAFLD), studies are lacking regarding the development of NAFLD in children and young adult with childhood-onset hypopituitarism. We aimed to identify association between NAFLD and hypopituitarism in these patients.Methods: 76 Korean children and young a...

hrp0092p3-77 | Diabetes and Insulin | ESPE2019

Factors Affecting the Preservation of C-Peptide Secretion in Egyptian Children with Type 1 Diabetes

El-hawary Amany , Aboelenin Hadil , El-Helaly Rania , El-Gwad Ahmed Abd

Background: type I diabetes is associated with progressive destruction of pancreatic β-cells with gradual decline of insulin secretion. C-peptide is considered the best indicator of endogenous insulin secretion in patients with diabetes.Aim of the Work: evaluate the effect of different variables associated with preserved pancreatic beta cell function at one year after diagnosis of children with type I DM.<p c...

hrp0089p2-p051 | Bone, Growth Plate &amp; 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...