ESPE Abstracts

Introduction: In obese boys, alteration of Sertoli and Leydig cell functions have been described, but potential reversibility of these alterations after weight loss during childhood has not been fully evaluated.Objective: Evaluate the impact of weight loss on gonadic function in obese boys.Setting: Monocentric study in the Pediatric Endocrinology Unit of Angers University Hospital ant its follow-up...

21-hydroxylase deficiency (21OHD) is the most common form of congenital adrenal hyperplasia (CAH) and is caused by mutations in the CYP21A2 gene. 21OHD causes a wide array of clinical symptoms that result from gluco- and mineralocorticoid deficiency and adrenal androgen excess. In most cases, supra-physiological glucocorticoid doses are necessary which may cause short stature, obesity, hypertension, cardiovascular and metabolic co-morbidity with reduced quality of lif...

Background: Inherited amino-acid metabolism disorders (IAAMDs) require lifelong restriction of natural dietary proteins. Nutritional amino-acid mixtures (AMM) free of the poorly metabolised amino-acids by the enzyme block, improve nutrition. An adequate protein intake is crucial to ensure normal body development, notably during puberty. We aimed to: 1/ describe growth and puberty in IAAMDs 2/ investigate associations linking height, IGF1 and IGFBP3 with AAM an...

Background: Turner syndrome (TS) is associated with short stature, hypogonadism, autoimmune diseases and metabolic conditions. Genome-wide changes in TS affect both transcriptome and methylome. Genomic studies have primarily focused on 45,X, but only 35-45% of the TS population has 45,X, while the remaining TS have other karyotypes.Methods: We used 5 study cohorts. A “genomic cohort” of TS with 45,X karyotype...

Introduction: Primary brain tumors are the second most common childhood malignancies, with an increasing survival rate over the years. Late effects on puberty and fertility alter survivors’ quality of life.Methods: We included 204 patients diagnosed with a primary brain tumor before 18 years, followed in pediatric endocrinology at the University Hospital “Necker-Enfants Malades” in Paris between January 20...

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...

Objective: To describe clinical manifestations of SARS-CoV-2 infection in children, adolescents, and young adults with established type 1 diabetes and explore the effects of COVID-19 on glycemic control and disease course.Methods: Observational study conducted at three pediatric diabetes clinics in Israel between mid-March-2020 and mid-March-2021. Included were young people with established type 1 diabetes, <30years, ...

Background: The ‘External Masculinization Score’ (EMS) is an objective method of scoring undervirilized genitalia in infants but may require further adaptation to capture the appearance of the genitalia more comprehensively across the phenotypic spectrum.Objective: To develop and validate a non-binary, standardized score that describes the range of appearance of external genitalia.Method: The external genitalia score (EGS...

Background: GLI2 is a zinc-finger transcription factor of the SHH signaling pathway, expressed during ventral forebrain and pituitary development. GLI2 mutations account for microforms of dominant holoprosencephaly. So far, only 15 unambiguous mutations were found in hypopituitarism –essentially combined pituitary hormone deficiency (CPHD)– frequently associated with holoprosencephaly-like malformations and/or polydactyly.Objective and...

Background: 45,X/46,XY mosaicism is a rare karyotype with a broad phenotypic variation. In patients with a male or predominantly male phenotype, impaired genital development and statural growth have been observed, but little is known about long-term outcomes. Larger multicenter studies are needed.Objective and hypotheses: The aim of this study is to investigate long-term outcomes, namely gonadal function, growth and co-morbidities, in a larger group of m...