ESPE Abstracts

Results: During the years of this study, the prevalence of NB reported as suspected with CH was 1:1220 NB, showing a stable trend on the linear tendency analysis; when adjusted for cases with confirmed high values of TSH in umbilical cord measurement, the prevalence is 1:3041 NB. Regarding the demographic data of the patients analyzed, it was found 54% were men and 46% women. Of the total CH cases with a reported weight, 20% weighted less ...

Introduction: Multisystem inflammatory syndrome in children (MIS-C) is associated with Covid-19. MIS-C was first reported in April 2020 with similar symptoms to Kawasaki disease and has several treatment options, one of which is glucocorticoids.Autopsy studies in Covid-19 patients have shown degenerative adrenal changes.It has been reported that rarely Covid-19 may affect adrenal function and cause both primary and secondary adrenal insufficiency.Here we prese...

Introduction: β-thalassemia is a hereditary chronic hemolytic anemia characterized by a defect in the synthesis of beta-globin chains, particularly common in the Mediterranean region, southern Asia, and the Middle East (1) Transfusion programs and chelating therapy have greatly extended the life expectancy of patients (2). This has led to an increase in the prevalence of endocrine complications, linked to iron overload (3) including abnormalities in gluco...

Introduction and Objective: Puberty marks the transition from childhood to adulthood, initiated by the activation of the hypothalamic-pituitary-gonadal axis. Anti-Müllerian hormone (AMH) and inhibin B, both secreted by granulosa cells, play crucial roles in pubertal development and reflecting ovarian reserve. Establishing reference intervals for AMH and inhibin B across different pubertal stages is essential for assessing ovarian function and identifying ...

Purpose: The aimof this study is to investigate the presence of microalbuminuria in children and adolescents diagnosed with Graves' Disease (GD) and Hashimoto's thyroiditis (HT) and compare the results with the healthy control group.Materials and Methods: This cross-sectional, single-center study included 35 patients with GH, 29 patients with HT, and 34 healthy control groups. Microalbumin and creatinine measur...

Introduction: The impact of COVID-19 on the thyroid axis is still unclear. The most recent studies have presented contradictory findings. Theoretically, both direct toxic effects and indirect inflammatory responses can influence thyroid functions. A limited number of studies conducted in pediatric patients have revealed cases of hypothyroidism, hyperthyroidism, and nonthyroidal illness syndrome occurring during the COVID-19 infection.<st...

Giant prolactinomas are rare tumours, with a prevalence of 0.5–4.4% among all pituitary tumours. In the literature, relatively few series describing their management and outcomes are available; moreover, only individual case reports of giant prolactinomas in children have been documented. We report a 10-year-old boy presented with painless progressive vision loss, insidious in onset, and bitemporal headache of six mounths duration. On physical examination; height: 134.2 ...

Purpose: Therapeutic goals in the adolescent male with hypogonadotropic hypogonadism(HH) are virilization, optimal adult height, normal bone mass, body composition, psychosocial development, and fertility. Until recently, only testosterone was used to treat adolescent males with HH. However, this treatment did not cover all treatment goals and adverse effects on fertility were reported. Therefore, gonadotropin therapy can be used in addition to testosterone in...

Introduction: Thyroid dyshormonogenesis (TD) is a heterogeneous group of genetic diseases caused by the total or partial defect in the synthesis or secretion of thyroid hormones. It presents clinical heterogeneity, from subclinical hypothyroidism (SH) to goitre. The clearer understanding of the pathways and enzymatic activities involved in the synthesis of thyroid hormones has allowed us to identify an important number of causal genes. Defective organification...

Background: A few patients with NS have been reported to harbour pathogenic mutations in LZTR1 gene. RAS regulation by LZTR1-mediated ubiquitination provides an explanation for the role of LZTR1 in human disease. Mutations in this gene could hence lead to NS phenotype. Three patients with mutations in this gene and compatible NS phenotype are herein described.Case 1: A 5 year-old boy with bilateral cryp...