hrp0097p1-514 | Growth and Syndromes | ESPE2023

Addition of genetic workup in children with isolated short stature to improve the diagnostic yield for growth hormone treatment

Martinez de Lapiscina Idoia , Zürcher Matthias , Saner Christoph , E. Flück Christa

Introduction: Short stature is a common finding that affects per definition about 3% of the population. Isolated, severe short stature may be treated successfully with recombinant human growth hormone (rhGH). Currently, rhGH is offered to short children with specific disorders or biochemically proven growth hormone deficiency (GHD). However, biochemical testing for GHD is artificial and therefore controversial. Adding genetic testing may improve the diagnostic...

hrp0097p1-356 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Acquired Hypothalamic dysfunction in childhood: “What do patients need?“ – an Endo-ERN survey

van Roessel I.M.A.A. , de Graaf J.P. , Biermasz N.R. , Charmandari E. , van Santen H.M.

Objective: Hypothalamic dysfunction is a rare condition and can be encountered in patients who have been diagnosed or treated for a suprasellar brain tumor. Due to its rarity, signs and symptoms of hypothalamic dysfunction may be difficult to recognize, leading to delayed diagnosis of the suprasellar brain tumor or to difficulties in finding the health care expertise for hypothalamic dysfunction after tumor treatment. To improve care and outcome of patients wi...

hrp0097p1-565 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Insights into pubertal development among individuals with NR5A1/SF-1 variants: Results from the international SF1next study

Kouri Chrysanthi , Sommer Grit , Martinez de LaPiscina Idoia , E. Flück Christa

Background: NR5A1/SF-1 variants result in a wide range of phenotypes including DSD, male infertility, and primary ovarian insufficiency (POI). Little is known of how NR5A1/SF-1 variants affect puberty in individuals with or without DSD. This study aimed to assess the impact of NR5A1/SF-1 variants on pubertal development and investigate whether abnormal puberty is linked to the severity of DSD in an international cohort with NR5A1...

hrp0097p1-566 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Inhibin A (INHA) and steroidogenic factor 1 (SF-1/NR5A1) collaborate in regulating human sex development.

Naamneh Elzenaty Rawda , Sara Sauter Kay , Kouri Chrysanthi , Martinez de Lapiscina Idoia , E. Flück Christa

Background: Inhibin consists of two homologous subunits, the α (INHA) and the βA or βB subunits (INHBA/INHBB). Both inhibins play an important role in the hypothalamic-pituitary-gonadal axis by regulating the follicle stimulating hormone levels. INHA knockout mice develop mixed or incompletely differentiated gonadal stromal tumours. In females, some INHA variants have been associated with primary ova...

hrp0098p1-101 | Thyroid 1 | ESPE2024

Genetic analyses in a cohort of pediatric patients with congenital hypothyroidism based on congenital hypothyroidism consensus guideline

Kurnaz Erdal , Turkyilmaz Ayberk , Yaralı Oguzhan , Sena Dönmez Ayşe , Çayır Atilla

Background: Pathogenic variants in the genes involved in the formation of thyroid tissue and thyroid hormone secretion have been reported to cause congenital hypothyroidism (CH) in some cases.Aim: This study aimed to evaluate the clinical and genetic findings of CH cases thought to be due to genetic variantsMethod: The study included cases whose genetic analysis was performed in ac...

hrp0098p2-292 | Thyroid | ESPE2024

Normal Thyroid Gland Size in Healthy Turkish Newborns Living in An Iodine-Sufficient Area: Ultrasonographic Measurements and Comparison of Handheld and Standard Devices

Tuzcu Göksel , Deveci Sevim Reyhan , Gök Mustafa , Anık Ayşe , Anık Ahmet

Objective: The primary aimof this study was to determine the normal values of thyroid gland size measured by ultrasonography (US) in healthy term newborn infants. The secondary objective was to compare the measurements made with handheld and standard US devices.Materials and Methods: Healthy newborn infants aged 0-30 days were included in the study. Thyroid size was measured twice: first between days 1-2 and again betwee...

hrp0095p1-242 | Diabetes and Insulin | ESPE2022

The lncOb rs10487505 polymorphism impairs insulin sensitivity and glucose tolerance in children and adolescents with obesity

Rosaria Umano Giuseppina , Cirillo Grazia , Rondinelli Giulia , Vittoria Foderini Maria , Ferrara Serena , Di Sessa Anna , Marzuillo Pierluigi , Santoro Nicola , Miraglia del Giudice Emanuele

Purpose: Leptin plays a key role in the regulation of body weight and other endocrine systems. Recently, impairment of leptin gene transcription due to genetic variations in a long-noncoding RNA, also referred as lncOb, has been described in mice. In humans, a correspondent polymorphism (rs10487505) has been associated with relatively low plasmatic leptin levels compared to obesity severity and with early obesity onset.Objectives...

hrp0098p1-136 | Fat, Metabolism and Obesity 2 | ESPE2024

PODiaCar-Fight against Pediatric Obesity: from a predictive tool for type 2 Diabetes and Cardiovascular diseases risk to healthy educational programs

Calcaterra Valeria , Rossi Virginia , Vandoni Matteo , Verduci Elvira , Pagani Valter , Corbellini Camilo , Fiore Giulia , Tosi Martina , Carnevale Pellino Vittoria , Marin Luca , Mannarino Savina , Campoy Cristina , Zuccotti Gianvincenzo

Introduction: Both the detrimental effects on health produced by obesity, and the burden provoked on healthcare systems clearly dictate the need to provide nutritional interventions for preventing and managing obesity during childhood. Furthermore, the lifestyle habits developed in early childhood have a long lasting effect on cardiovascular and metabolic health, highlighting the importance of prevention. PODiaCar project is dedicated to enhancing the efforts ...

hrp0098p1-138 | Fat, Metabolism and Obesity 2 | ESPE2024

Enhanced Metabolic Profiles Following Exercise Training in Children

Rossi Virginia , Giovanelli Luca , Bernardelli Giuseppina , Facchetti Simone , Malacarne Mara , Vandoni Matteo , Carnevale Pellino Vittoria , Lucini Daniela , Zuccotti Gianvincenzo , Calcaterra Valeria

Aim: To evaluate whether a straightforward assessment like the Six-Minute Walking Test (6MWT) can effectively gauge the impact of an online supervised training program on lipid and glucose metabolism in a cohort of children with obesity, given the efficacy of exercise-based interventions in influencing the pathogenic processes underlying obesity-related complications.Methods: A group of 35 Caucasian children aged 8-13 wi...

hrp0086p1-p372 | Gonads & DSD P1 | ESPE2016

Effects and Side Effects of Cyproterone Acetate Alone and in Combination with Estrogens in Natal Male Adolescents with Gender Dysphoria

Tack Lloyd , Craen Margarita , Dhondt Karlien , Bossche Heidi Vanden , Laridaen Jolien , Cools Martine

Background: Male to female (MtF) gender dysphoric adolescents with advanced pubertal development can be treated with antiandrogenic progestins such as cyproterone acetate (CA). CA is much cheaper and easier to administer than GnRHa and can later be combined with cross-sex hormones (17β-estradiol) (CA+E). To date, few data exist on the (side) effects of progestins for this indication.Objective and hypotheses: To report the effects of consecutive CA a...