ESPE Abstracts

Background: Central precocious puberty (CPP) is mostly idiopathic, however, familial cases of CPP and evidence of genetic factors on pubertal timing by genome-wide association studies suggested genetic causes of CPP.Objective and hypotheses: Molecular defects in six genes (KISS1, KISS1R, LIN28A, LIN28B, TAC3, and TACR3) have been known to cause early activation of the hypothalamic-pituitary–gonad...

Context: Acute or chronic metabolic derangement after solid organ transplantation (SOT) can result in endocrine complications. As survival rates following SOT have significantly increased, the occurrence of endocrine complications has also risen.Objective: This study was performed to investigate long-term endocrine complications after SOT in children and adolescents.Methods: This s...

Background: Isolated gonadotropin-releasing hormone deficiency (IGD) is a genetically heterogeneous disorder caused by >60 genes resulting in a broad range of clinical manifestations and classified into Kallmann syndrome (KS) with anosmia and normosmic isolated hypogonadotropic hypogonadism (nIHH). Despite the advent of next-generation sequencing technology, ~50% of the cases remain genetically undiagnosed. Previously, copy number variations (CNVs) in known...

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...

Objectives: This study aim ed to evaluate the safety and effectiveness of recombinant human growth hormone (rhGH) treatment, using specific products (Eutropin®, Eutropin®Pen, Eutropin®AQ, Eutropin®Plus and Eutropin®SPen; LG Chem, Ltd.), in pediatric patients with growth disorders in Korea.Methods: The safety analysis included all eligible patients who received at least one dose of rhGH. The effectiven...