ESPE Abstracts

Background: Low-dose adrenocorticotropic hormone stimulation test (LDST) is commonly used for evaluating the adequacy of hypothalamo-pituitary-adrenal axis functions. However, there is still no standardization between protocols used in different centres.Objective: To contribute to the optimal time of highest cortisol response in the LDST in children.Design: A prospective study of L...

Background: DNAJC3 is an endoplasmic reticulum (ER) co-chaperone involved in folding/processing of secretory and transmembrane proteins. The defect in the ER co-chaperone proteins impairs adaptive ER responses and leads to apoptosis, impairment of organ function with multisystemic involvement. Biallelic mutations in the DNAJC3, described in a limited number of cases cause multiple endocrine dysfunction and neurodegeneration of nervous system.<p cl...

Background: Low-dose adrenocorticotropic hormone stimulation test (LDST) is widely used to assess patients for adrenal insufficiency. However, the predictive power of basal cortisol for the performance of LDST is not clear.Objective: To determine the appropriate basal serum cortisol cutt-off values that predict a positive or negative LDST.Design: A single-centre retrospective study...

Background: Bone morphogenetic protein 15 (BMP15), is an oocyte-specific growth factor, that regulates folliculogenesis and ovulation rate. It is encoded by the BMP15 gene (chromosome Xp11.2), in which heterozygous missense variants in the precursor or mature peptide cause primary ovarian insufficiency (POI) with the dominant-negative effect. BMP15-related ovarian dysgenesis (OD) constitutes 1.5-2.0% of POI. The underlying mechanism ...

Aim: This study aims to investigate the presentation characteristics, follow-up, and treatment modalities in children and adolescents diagnosed with Type 2 Diabetes (T2D).Materials and Methods: This retrospective chart review includes 50 patients aged 4-20 years diagnosed with T2D between February 2013 and October 2023 according to American Diabetes Association (ADA) criteria in pediatric endocrinology clinic of a univer...

Background: Hypoparathyroidism (HP) and pseudohypoparathyroidism (PHP) are conditions associated with basal ganglia calcification (BGC) which is thought to be caused by high serum calcium-phosphorus product and inadequate management of hypocalcemia. Novel mechanisms have recently been proposed for phosphate sensing and transport. However, the exact pathophysiology of BGC remains to be elucidated.Objective: To gain furthe...

Background: Hereditary hypophosphatemia (HH), is a rare condition related to decreased renal tubular phosphate reabsorption. Although X-linked hypophosphatemia (PHEX mutation) is the most frequent cause of HH, recent advances in the next-generation sequencing (NGS) techniques enable the identification of various genetic etiologies. Our study aims to determine the molecular etiology of patients with hypophosphatemia and to identify new candidate genes....

A worldwide increase in pediatric thyroid cancers incidence over the years has been observed. Although pediatric thyroid cancers tend to have a more aggressive course compared to adults, the survival rate is better. In this study, we aimed to examine the demographic, clinical, pathological, and laboratory characteristics, prognostic and risk factors of children with thyroid cancer.Methods: We retrospectively analyzed 39 children with thy...

Context: The 45,X/46,XY mosaicism poses a great clinical challenge influencing gonadal development, histology, hormonal balance, and growth. Patients present a wide spectrum of phenotypes with varying degrees of genital ambiguity from Turner Syndrome to male. Here, we present five children with 45,X/46,XY mosaicism presenting with different clinical phenotypes.Case Descriptions:Case 1:</str...

Background: Primary hypoparathyroidism (HP) is a rare disease characterized by hypocalcemia, hyperphosphatemia and low/inappropriately normal parathyroid hormone (PTH) levels. We aim to characterize the clinical findings and molecular aetiology of childhood HP in our cohort.Method: DiGeorge-VCFS FISH analysis was performed on all patients (n=28) as the initial step after the diagnosis. In whom, FISH analysis was...