ESPE Abstracts

Background: Pseudohypoparathyroidism (PHP) is a heterogeneous group of disorders characterized by hypocalcemia, hyperphosphataemia and Albright hereditary osteodystrophy (AHO), resulting from abnormalities of GNAS.Objective and hypotheses: This study investigated clinical features, outcomes, molecular characteristics of patients with PHP and pseudopseudohypoparathyroidism (PPHP).Method: Thirty one patients (15 males and 16...

Background: Permanent neonatal diabetes mellitus is caused by mutations in the KATP channel subunits. DEND (Developmental delay, Epilepsy, and Neonatal Diabetes) syndrome is the most severe form of permanent neonatal diabetes. We experienced a patient with DEND syndrome, who was initially misdiagnosed as type 1 diabetes, who has been successfully switched from insulin injection to oral sulfonylurea therapy.Case presentation: A 50-day-old male ...

Purpose: The 3-month gonadotropin-releasing hormone analogs (GnRHa) are expected to achieve better compliance in central precocious puberty (CPP) patients, but the 1-month depot remains the dominant choice for conventional treatment worldwide. Our study aimed to investigate the long-term efficacy of 3-month GnRHa for the treatment of CPP.Methods: In this retrospective study, 69 Korean girls diagnosed with CPP were includ...

Background: Increase in incidence of congenital hypothyroidism (CH) is explained by detection of transient CH (TCH), previously commonly underdiagnosed, due to neonatal screening programs. Current guidelines recommend that treatment be started immediately after diagnosis and that hypothalamic-pituitary-thyroid (HPT) axis be reevaluated after 3 years of age. We aimed to identify the factors associated with TCH, such as the perinatal history or L-thyroxine (LT4)...

Backgrounds: Sitosterolemia is an inborn error of sterol metabolism caused by pathogenic variation of ABCG5 or ABCG8. It is characterized by increased plant sterol levels, xanthomas, and accelerated atherosclerosis; however, it is likely to be underdiagnosed in the clinical field. This study aims to describe the genetic variance of clinically confirmed patients with sitosterolemia and analyze the clinical spectrum according to genetic variance.<p class="ab...

Objective: This study aimed to compare clinical parameters, including final adult height (FAH), in girls with central precocious puberty treated with gonadotropin-releasing hormone agonists (GnRHa) with and without growth hormone (GH).Methods: This retrospective study reviewed data of 210 girls with precocious puberty who had reached FAH in a long-term trial of GnRHa treatment. The subjects were divided into the GnRHa tr...

Objective: Central precocious puberty (CPP) is defined as early activation of the hypothalamic-pituitary-gonadal axis. The gonadotropin releasing hormone (GnRH) stimulation test has become widely used in the evaluation of CPP. However, intravenous GnRH is often not readily available for commercial use. Therefore, we aimed to evaluate the diagnostic accuracy of the Triptorelin test compared to the GnRH test.Methods: A tot...

Introduction: Genes on the X chromosome (BMP15, FMR1) and autosomal chromosomes (FOXL2, RSPO1, WNT4) are known to influence ovarian development. 46,XX gonadal dysgenesis is a rare disease caused by chromosomal abnormalities, genetic mutations, and postnatal ovarian damage, leading to premature ovarian failure.Case Report: A 16-year-old female presented with primary amenorrhea and poor breast development. She was born at ...

Purpose: To examine the association of Insulin-like growth factor-1 (IGF-1) and binding protein-3 (IGFBP-3) with metabolic parameters of childhood obesity and assess its relationship with the presence of metabolic syndrome (MetS)Methods: A cross-sectional study of total 307 children and adolescents referred for growth assessment was performed. Subjects were divided into three groups based on body mass index (BMI) percent...

Background: Insufficient data exist for the prediction of the first-year response to growth hormone (GH) treatment in Korean prepubertal children with idiopathic GH deficiency (GHD).Methods: Data from children (n = 345) who were in the LG Growth Study Database or had participated in other relevant clinical trials were used to develop a model. All included patients had been diagnosed with idiopathic GHD with maximum G...