ESPE Abstracts

Introduction: High doses of biotin are reported to cause incorrect results in various immunoassays in some patients. However, there is no systematic study regarding biotin interference in childhood.Aim: To assess thyroid function with different methods in subjects with biotinidase deficiency, to determine the factors causing interference, and to investigate the efficiency of the methods for overcoming interference.Method: The study...

Background: The CYP27B1 gene encodes 25-hydroxyvitamin D-1α-hydroxylase. Mutations of this gene cause a rare autosomal recessive disorder, vitamin D-dependent rickets type 1A.Objective and hypotheses: To investigate CYP27B1 mutations in children when rickets was associated with normal or high vitamin D levels and low or inappropriately normal calcitriol levels.Method: All coding exons and intron-exon boundari...

Aim: Quail egg (QE) consumption became popular among children for alleged health benefits. Based on our observation of premature thelarche (PT) in a few children who consumed QE, we investigated the relationship between QE and puberty by a clinical and an experimental studies.Method: In the clinical study, a questionaire was used to compare the frequency and amount of QE consumption (between 55 girls with PT (n ...

Key words: Dysgerminoma, gonadoblastoma, virilizationIntroduction: Gonadoblastoma is a rare ovarian tumor composed of sex cord cells and primitive germ cells. Although it is frequently seen in patients with 46,XY gonadal dysgenesis, it is also rarely seen in patients with a 46,XX karyotype. Here, we report a girl with a 46,XX karyotype presenting due to an uncommon cause of virilization, which was caused by bilateral gon...

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 ...

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...