ESPE Abstracts

Background: Familial hCG syndrome is a rare and benign cause of elevated serum beta human chorionic gonadotropin (β- hCG), moreover, elevated β-hCG in cerebrospinal fluid(CSF) has never been reported in familial hCG syndrome.Object: To report the two Chinese families of familial hCG syndrome with elevated β-hCG concurrently in blood/CSF.Method: We described the clini...

Objective: To summarize the metabolic status in children with classic congenital adrenal hyperplasia(CAH) due to 21-hydroxylase deficiency (21OHD).Methods: Children with classic 21OHD from Pediatric Endocrinology Clinics at the First affiliated hospital of Sun Yat-Sen University from January 1990 to February 2023 were included in the study. The prevalence of overweight/obesity, dyslipidemia [high triglyceride (TG), high ...

Aim: Aromatase inhibitors are widely used in clinical practice and are currently employed in the treatment of adolescents with short stature. However, the impact of these inhibitors on the reproductive function in male adolescents remains unclear.Methods: The data of patient with short stature who had completed aromatase inhibition therapy between 2015 and 2022 at the First Affiliated Hospital of Zhejiang University Scho...

Objective: This study investigated the genetic etiology and clinical phenotype of non-syndromic childhood and adolescent obesity.Methods: A total of 392 non-syndromic obese children aged 7-14 years old who were hospitalized in Department of Endocrinology. Whole exon sequencing was used to screen the potential genetic causes and analyze CNV and 79 reported obesity candidate genes.Results:</s...

Purpose: Aromatase inhibitors are widely used in clinical practice and are currently employed in the treatment of adolescents with short stature. However, the impact of these inhibitors on the reproductive function in male adolescents remains unclear.Methods: The data of patient with short stature who had completed aromatase inhibition therapy between 2015 and 2022 at the First Affiliated Hospital of Zhejiang University ...

Background: Steroidogenic factor-1 (SF1) is a nuclear receptor transcription factor that plays a crucial role in regulating the adrenal, gonadal, splenic development, steroidogenesis and reproduction.Objective: To describe a Chinese 46,XY female with sex reversal, primary adrenal insufficiency and congenital splenic dysplasia harboring a novel de novo heterozygous deletion in NR5A1 gene.<p class="ab...

Background: Globally, 16% of infants are born with small-for-gestational-age (SGA) status. The high risks of cognitive and growth deficits in these infants are well reported; however, the potential link between SGA and mental disorders remains understudied.Methods: We conducted a thorough search across the MEDLINE, PubMed, Embase, Web of Science, and APA PsycInfo databases, screening 4672 studies. Observational studies t...

Background: X-linked adrenal hypoplasia congenita (AHC) is a rare disorder characterized by primary adrenal insufficiency (PAI) and hypogonadotropic hypogonadism (HH), with limited clinical and genetic characterization.Methods: The clinical, biochemical, genetic, therapeutic, and follow-up data of 42 patients diagnosed with X-linked AHC were retrospectively analysed.Results: Hyperp...

Background: Sitosterolemia (STSL) is an extremely rare genetic disease. Xanthomas as the first symptom is frequently misinterpreted as familial hypercholesterolemia (FH) in children. Inappropriate treatment may deteriorate the condition.Objectives: The goal of this study was to summarize the clinical characteristics of children with STSL who had xanthomas as their first symptom and to provide clues for early clinical dia...

Background and Objectives: In the patients with Turner syndrome (TS), the risk of hypertension is higher in childhood and adulthood. The aim of the study was to retrospectively analyze 24-hour ambulatory blood pressure monitoring (ABPM) in children and adolescents with TS and its related factors.Materials and Methods: A retrospective study was conducted involving TS patients admitted to our pediatric endocrine specialist...