Previous issue | Volume 97 | ESPE2023

61st Annual ESPE (ESPE 2023)

The Hague, Netherlands
21 Sep 2023 - 23 Sep 2023

Card image cap
The 61st ESPE Annual Meeting will now be taking place in The Hague, The Netherlands

hrp0097rfc14.1 | Late Breaking | ESPE2023

Clinical characteristics of patients presented with primary adrenal insufficiency due to a p.R451W mutation in the CYP11A1 gene

Çayır Atilla , Demirbilek Huseyin , Nuri Ozbek Mehmet , Kurt lknur , Karaoglan Murat , Albayrak Serpil , Nuri Dundar Bumin , Guran Tulay

Background and objective: The first and rate-limiting step of steroidogenesis is the conversion of cholesterol to pregnanolone which is catalyzed by the P450scc side chain cleavage enzyme (encoded by CYP11A1 gene-SCC). Homozygous recessive mutations of the CYP11A1 gene cause a global steroid hormone deficiency thereby disorders of sexual development in 46, XY individuals with a variable phenotype depending on the mutation characteristics. About 60 cases of SCC...

hrp0097rfc14.2 | Late Breaking | ESPE2023

No Relationship Between Thyroid Function and ADHD – Results From a Nationwide Prospective Epidemiological Study and Mendelian Randomization

Hirtz Raphael , Grasemann Corinna , Dinkelbach Lars , Hinney Anke , Hebebrand Johannes , Peters Triinu

Introduction: Limited research has focused on the potential connection between thyroid function and attention-deficit/hyperactivity disorder (ADHD), particularly beyond prenatal effects. The few studies addressing children and adolescents have important methodological shortcomings, mainly when seeking to establish causality. To clarify this relationship, a combined epidemiological and genetic approach was adopted to overcome the methodological limitations of e...

hrp0097rfc14.3 | Late Breaking | ESPE2023

Body composition in a pediatric population with type 1 diabetes mellitus - the importance of planned physical activity

Adriana Rangel Maria , Pires Rita , Lopes Vilma , Lima Conceição , Arménia Campos Rosa , Luísa Leite Ana

Introduction: Type 1 diabetes mellitus (T1DM) is associated with significantly higher cardiovascular disease mortality compared to the general population, even when glycated hemoglobin (HbA1c) is less than 7.0%. Inadequate body composition may increase the risk.Aim and Methods: To evaluate body composition of a group of pediatric patients with T1DM, from Portuguese Pediatric Endocrinology/Diabetic Clinic, using the bioim...

hrp0097rfc14.4 | Late Breaking | ESPE2023

Evaluating the Effect of Recombinant Human Growth Hormone Treatment on Sleep-related Breathing Disorders in Toddlers with Prader–Willi Syndrome: a one-year retrospective cohort study.

Cheng Ruoqian , Sun Chengjun , Guo Haiyan , Fu Jinrong , Zhou Yufeng , Wu Jing , Xu Zhenran , Ni Jinwen , Luo Feihong

Keywords: Sleep-Related Breathing Disorders, recombinant human Growth Hormone treatment, Prader–Willi syndrome, Toddlers.Background: Recombinant human growth hormone (rhGH) therapy is beneficial for children with Prader–Willi syndrome (PWS) in improving short stature and metabolism, but the effect of early rhGH treatment on respiratory and sleep parameters for the PWS children under three years old remains el...

hrp0097rfc14.5 | Late Breaking | ESPE2023

Functional demonstration that variants in the C-terminal of IHH cause short stature and/brachdactyly

Diaz-González Francisca , Modamio-Høybjør Silvia , Lucas-Castro Elsa , Coral Barreda-Bonis Ana , Campos-Barros Angel , González-Casado Isabel , Sentchordi-Montané Lucia , E. Heath Karen

Introduction: Variants in the N-terminal of the Indian-hedgehog gene (IHH) have been associated with Brachydactyly type-A1 (AD) and Acrocapitofemoral dysplasia (AR), only three of which have been functionally studied. However, heterozygous IHH variants, majority classified as variants of unknown significance (VUS) are being increasingly identified, not only in the N-terminal but also in the uncharacterized C-terminal, by NGS, in individuals with short...

hrp0097rfc14.6 | Late Breaking | ESPE2023

Enhanced histones acetylation in children with obesity: relationship with insulin resistance and inflammation

Nourbakhsh Mitra , Nourbakhsh Mona , Razzaghy-Azar Maryam , yousefi Zeynab , Hasan Maleki Mohammad , Taheri Alemeh

Introduction: Widespread changes occur in gene expression in obesity, contributing to metabolic and inflammatory abnormalities. Epigenetic mechanisms play a role in obesity by altering gene expression patterns, and connecting environmental factors to genetic alterations. Histone acetylation is a crucial epigenetic modification that impacts chromatin structure and regulates gene expression. Adipogenesis has been associated with gene-specific increases in histon...