ESPE Abstracts

Background: Loss-of-function of immunoglobulin superfamily, member 1 (IGSF1) causes an x-linked syndrome of central hypothyroidism, macroorchidism, delayed pubertal testosterone rise, variable prolactin deficiency, and variable partial growth hormone deficiency in childhood. The clinical features and gene expression pattern suggest a pivotal role for IGSF1 in the pituitary, but detailed knowledge on pituitary hormone secretion in this syndrome is lacking.<p class=...

Background: Screening for glucose intolerance (GI) or type 2 diabetes (T2D) is recommended for obese children over 10 years of age (or onset of puberty) in the presence of ≧2 of the following risk factors: family history of T2D in a first- or second-degree relative, high risk ethnicity, signs of insulin resistance (IR) or associated conditions, or maternal gestational diabetes. The diagnostic importance of HbA1C levels is still controversial in children and adolescents....

Drosophila melanogaster as a study model has already significantly contributed to the understanding of the mechanisms of many human diseases. So far D. melanogaster has rarely been exploited as a model for human sex development. Nanda et.al already demonstrated in 2009 that the Drosophila orthologue of SOX9, Sox100B is essential for testis development in Drosophila. Similarly, we could demonstrate that the fly homolog of STARD8, cv-c</...

Background: The goal of congenital hypothyroidism (CH) treatment is rapid normalization and maintenance of TSH and FT4 in the reference range. Recommended starting dose of levothyroxine (LT4) ranges from 10-15 mg/kg/d. Hyperthyroxinemia can be accepted in the context of normal TSH and LT4 should only be reduced in case of symptoms or repeatedly increased FT4. The aim of this study was to quantify duration and maximum peak of FT4 levels outside the reference range for each CH s...

Achondroplasia (ACH) is the most common form of dwarfism, occurring in 1: 20,000 births. ACH is caused by gain-of-function mutations in the fibroblast growth factor receptor 3 (FGFR3) gene that interfere with endochondral ossification. Clinically significant morbidities are frequent in ACH; however, there are currently no approved therapies that target the underlying pathobiology. C-type natriuretic peptide (CNP) is an attractive target as it has the potential to inhi...

Duplicated pituitary gland in association with other midline craniofacial anomalies – also described as DPG-plus syndrome – is extremely rare. So far the only described endocrine associations are precocious or delayed puberty. We describe the multifaceted management of a female infant with DPG-plus syndrome. Interestingly, the patient also presented with trans-cranial nasal dermoid cyst and a nasal dimple with protruding hair, which has not been described in previous...

Introduction: The prevalence of pediatric type 2 diabetes (T2D) increased over the last 2 decades, related to the rise in obesity. Meanwhile, treatment options for T2D have evolved considerably. Therefore, we analyzed changes in treatment approaches for pediatric T2D over two decades.Material and Methods: Patients with T2D from 321 pediatric diabetes centers (Austria 24, Switzerland 2, Luxemburg 1, Germany 290) were reco...

Introduction: The soluble leptin receptor (sLR) is the main binding protein of leptin in the serum. It reflects the amount of membrane-bound leptin receptors (LEPR) as the sLR is produced by proteolytic cleavage of the extracellular domain of membrane-bound LEPR. Low sLR but high leptin levels were measured in patients with severe obesity. In patients with monogenic obesity caused by biallelic LEPR variants, sLR levels were found to be either undetect...

Background: Current reference values for leptin in childhood and adolescence are presented separately for girls and boys, and as a function of age without considering the variability of fat mass. This complicates the interpretation of measured serum leptin concentrations since fat mass is the major determinant of circulating leptin concentrations. To fill this gap, we aimed at pooling existing data (age, BMI, sex, tanner stage (TS), serum leptin concentrations...

Background and Aim: A substantial proportion of SGA patients have a syndrome underlying their growth restriction. Most SGA cohorts comprise both syndromic (S-SGA) and non-syndromic patients (nonS-SGA) impeding delineation of the recombinant human growth hormone (rhGH) response. We present a detailed characterization of the Belgian SGA cohort and analyze rhGH response based on adult height (AH).Patients & Methods: Cli...