ESPE Abstracts

Background: Turner syndrome, a condition that affects only girls and women, result when the X chromosome is missing or partially missing. Ornithine transcarbamylase (OTC) deficiency, the most common inherited urea cycle disorder, is transmitted as a partially dominant X-linked trait. The OTC gene maps to Xp21.1 and spans approximately 73 kb, containing 10 exons and 9 introns. OTC deficiency is diagnosed using a combination of clinical findings and biochemical testing, while co...

Background: Hypertension is the leading cause of cardiovascular disease worldwide and both high and low blood pressures are associated with various chronic disease. Thyroid hormones have profound effects on cardiovascular function, including effects on blood pressure.Objective and hypotheses: Recent studies suggest that early life high blood pressure could be attributed to hypertension in late adulthood. Therefore, we aimed to investigate the association...

Background: Germline mutations in SDHB gene are associated with the familial paraganglioma (PGL) syndrome that carries the highest malignant potential. Although penetrance is lower than initially described, lack of effective treatments for metastatic PGLs makes screening essential for early tumour detection, surgical removal and improved outcome. However, no consensus exists in relation to timing and mode of screening.Objective: To assess publis...

Purpose: We investigated uric acid reference values and their association with cardiometabolic risk among children and adolescents using the Korea National Health and Nutrition Examination Survey (KNHANES).Methods: A total of 2,462 participants, aged 10-18 years, from the KNHANES 2016-2018 were included.Results: Serum uric acid (SUA) levels varied with sex and age. In male subjects...

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: 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)...

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-Purpose: In addition to chromosomal abnormalities, a number of genes have been implicated as causes of Disorders of Sexual Development (DSD). The NR5A1 (SF-1) gene expresses a transcription factor that plays a role in steroidogenesis by controlling multiple stages of adrenal and gonadal development, and its mutations have been reported in cases of DSD.Case presentation: A 152/12-year-old teenager ...

Background: Rare genetic diseases of obesity are often driven by gene variants in the melanocortin-4 receptor (MC4R) pathway. The MC4R agonist setmelanotide demonstrated significant reductions in body weight in patients ≥6 years old with various rare genetic diseases of obesity, including proopiomelanocortin (POMC), proprotein convertase subtilisin/kexin type 1 (PCSK1), or leptin receptor (LEPR) deficiency and Bardet-Biedl syndrome (BBS). While these condit...