ESPE Abstracts

Introduction: Primary polydipsia is rare during adolescence and is known to be associated with psychiatric disorders or psychological stress. Differential diagnosis includes endocrine, neurologic, renal, and iatrogenic causes.Case Report: A 14-year-old male presented with polydipsia and polyuria that persisted for 6 years. His fluid intake was about 9 liters a day and he woke up for voiding once or two times every night....

Background: The differential diagnosis of partial precocious puberty (PPP) and central precocious puberty (CPP) is vital to the prompt intervention and administration, but their specific biomarkers are still unavailable. The potential harmful effects of environmental factors on children's growth and development attract great concern and require urgent investigation.Objective: The metabolic differences and connection...

Background: FPLD2 results from autosomal dominant mutations in the LMNA gene. The physical appearance develops through adolescence where subcutaneous fat deposits of the limbs, trunk, buttocks and legs do not develop resulting in a muscular appearance. The metabolic phenotype includes elevations in triglyceride concentrations and hepatosteatosis with resultant insulin resistance. Co-morbidities that may manifest during young adulthood include early-onset diabe...

Background: Retinol binding protein 4 (RBP4) and adiponectin are known to be related with insulin resistance and type 2 diabetes.Objective and hypotheses: This study was aimed at investigating (RBP4) and adiponectin secretion in obese Korean children and adolescents with newly diagnosed type 2 diabetes (T2DM).Method: Nine obese children and adolescents with newly diagnosed T2DM (DM group) and ten obese age-matched subjects without ...

Background: Kallmann syndrome is the most common form of hypogonadotropic hypogonadism and is associated with genes such as KAL1, KAL2, CHD7, NELF, PROK2, and PROKR2. Genetic factors in hypopituitarism are involved with the gene mutation of PROP1, POU1F1, HESX1, LHX3, LHX4, and PTX2. We found a novel mutation of the AVP gene in a Kallmann syndrome patient with hypopituitarism.Case presentation: The pa...

Background: Congenital combined pituitary hormone deficiency (CPHD) has various clinical presentations and can be caused by genetic defects related to pituitary development. We investigated the clinical features and genetic analysis in Korean patients with congenital CPHD.Method: Among 444 patients diagnosed with CPHD between 1994 and 2021 from Seoul National University Children’s Hospital, 43 patients with congeni...

Background: The current diagnostic criteria for Prader–Willi syndrome (PWS) although widely accepted, is challenging to be implemented in Chinese population.Objective and hypotheses: The present study collected PWS cases from 12 centres across China. By analysing the clinical manifestation during early infancy, we aimed to provide data for clinical characteristics, screening strategy and effect of GH treatment in Chinese PWS patients.<p class="a...

Background: McCune-Albright Syndrome(MAS）is a rare disease caused by somatic gain-of-function mutations of the GNAS gene, presenting with fibrous dysplasia(FD), cafe-au-lait spots and gonadotropin-independent precocious puberty(PP). Adenohypophyseal hyperfunction syndromes is reported uncommon but potentially severe complication of MAS.Method: A prospective study was performed to evaluate the prevalence of the pit...

Background: Hepatoblastoma is the most common malignant pediatric hepatic tumor virtually confined to infants and young children. Accompanied by raised levels of alpha fetoprotein (AFP)，rarely, the beta human chorionic gonadotropin (β hCG) levels may also be elevated, which can cause male peripheral precocious puberty (PPP).Objective: To report a case of HB presented with PPP with elevated serum AFP, β h...

Background: In children with extracranial germ cell tumors (GCTs), brain metastases are rare and are classified as “poor prognosis”. The longest interval to brain metastases was 36 months after diagnosis in children, however, it is still less understood.Methods: We report a boy who had suprasella tumor recurrence 4 years after the first diagnosis of extracranial GCTs (thymus).Re...