ESPE Abstracts

Introduction: Klinefelter syndrome (KS) is most common sex chromosomal aneuploidy in males. The typical clinical features are tall stature with long extremities, small testis, and learning disabilities. Three M syndrome is an extremely rare genetic disorder characterized by short stature, craniofacial abnormality and skeletal malformations. We report a unique case of short stature in KS due to three M syndrome.Case: A 9-...

Background/aim: Puberty is a mysterious process about which much is as yet unknown. MKRN3 is involved in regulating the initiation of puberty by inhibiting gonadotropin releasing hormone (GnRH) secretion. This study evaluated the serum level of MKRN3 and investigated its diagnostic usefulness in girls with central precocious puberty (CPP). Changes in the MKRN3 concentration during GnRH agonist (GnRHa) treatment were also analyzed.Methods: In total, 41 gi...

Background: Vitamin D deficiency has been associated with chronic diseases, such as diabetes mellitus, obesity and autoimmune disease. However, There are only a few studies about the correlation between Vitamin D levels and precocious puberty in girls.Objective and hypotheses: In the previous study, vitamin D levels may be associated with precocious puberty. We also aimed to re-evaluate the relationship between serum 25-hydroxyvitamin D (25(OH)D) and pre...

Background: Fetuin-A plays a role in insulin resistance and cardiovascular disease.Objective and hypotheses: The aim of present study was to determine the relation between fetuin-A levels and caridiometabolic risk factors and to investigate effect of serum fetuin-A to insulin sensitivity indices for determining whether fetuin-A is additional marker of insulin resistance in prepubertal children.Method: Ninety-nine prepubertal Korean...

Background: The GHR-exon3 and the -202 A/C IGFBP3 polymorphisms have been suggested to affect responses to recombinant human GH (rhGH) therapy in some individuals with short stature. This study aimed to assess the influences of the two polymorphisms on treatment outcomes in patients with GH deficiency (GHD).Method: In 72 (32 girls and 40 boys) children with confirmed diagnosis of GHD, genotyping and serial measurements of auxological and endocrinological...

Background: Leptin has a major role in the metabolic gating of pubertal maturation. Kisspeptin is an essential gatekeeper of puberty. Neurokinin B (NK B) is not widely known in the precocious puberty (PP) but it is coexpressed with kisspeptin in the arcuate nucleus and synchronizes the pulsatile secretion of kisspeptin.Objective and hypotheses: Leptin, kisspeptin, and NK B are influenced by energy balance and metabolic status has a clear impact on the ti...

Background: As newborn screening test (NST) became popular, the incidence of congenital hypothyroidism (CH) was raised. But not all CH children require lifelong levothyroxine (LT4) replacement therapy.Objective and hypotheses: We aimed to analyse predicting factors suggesting transient CH (TCH) compared to permanent CH (PCH) or transient thyroid function test (TFT) abnormality who had a positive screening results in our centers for the past de...

Purpose: As the survival rate for pediatric cancers increases significantly with advances in treatment modalities, long-term endocrine complications have also risen. This study investigated the frequencies and risks of endocrine sequelae of childhood cancer survivors after hematopoietic stem cell transplantation (HSCT).Methods: This study included 200 pediatric patients who underwent HSCT. Clinical and endocrinological f...

Purpose: Androgen insensitivity syndrome (AIS) is a rare X-linked recessive disorder caused by unresponsiveness to androgen because of mutations in the AR gene. Here, we investigated the clinical outcomes and molecular spectrum of AR variants in patients with AIS attending a single academic center.Methods: This study included 19 patients with AIS who were confirmed by molecular analysis of AR. Clinical features and endoc...

Introduction: Reduced muscle strength is associated with increased cardiometabolic morbidity and mortality. Handgrip strength (HGS) is an indicator of muscle strength and has been correlated with total muscle strength in children and adolescents. We aimed to evaluate the association between HGS and parameters of the metabolic syndrome and insulin resistance in children and adolescents.Methods: A total of 2,242 children a...