ESPE Abstracts

Objective: The aim of this study was to detect potential gene mutation of idiopathic hypogonadotropic hypogonadism Syndrome (IHH) in a Chinese family.Methods: Patient with clinical diagnosis and parents were analyzed in this study. The analysis included medical histories, clinical analysis, and genetic tests. A Disorder of Sexual Development (DSD) gene panel was applied to identify the pathogenic mutation responsible for the DSD and verified by Sanger.</...

Purpose: Turner Syndrome (TS) is a common chromosomal disorder in females, affecting approximately 3% of female conceptions. At present, the diagnosis of TS largely relies on karyotype testing and related technologies. The issuance of such tests depends on the experience of doctors and the analysis of reports takes more than a week, which leads to a high misdiagnosis rate for TS. Therefore, our objective is to facilitate swift and accurate identification of TS...

Background: The combination of Turner syndrome (TS) and congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency is rare. These two diseases affect children’s growth and development through different endocrine hormone metabolic dysfunction.Case presentation: A patient suffering from ambiguous genitalia was referred to our hospital when she was 2 months old. Her length was 58 cm (+0.9 standard deviation, SD) and weigh...

Keywords: Primary ovarian insufficiency; Microsomal maintenance complex 8; Cell apoptosis; Cell cycle; PI3K/AKTBackground: Primary ovarian insufficiency (POI) with a chromosome karyotype of 46,XX in children, compared to adults, is difficult to diagnose and often seek medical attention due to delayed puberty or short stature. We have reported the two novel pathogenic mutations p.C242R and p.S445*of MCM8 gene in a pedigre...

Background: The correlation between free thyroid hormones and poor diabetic control in children with diabetic ketoacidosis (DKA) and the effects of thyroid hormone therapy on euthyroid sick syndrome (ESS) remain unclear.Objective and hypotheses: To investigate characteristics of ESS in children with DKA and the effects of thyroid hormone therapy on ESS. In children with DKA, free thyroid hormones may be associated with the severity of DKA and thyroid hor...

Objective: The aim of this study was to detect potential gene mutation of Methylmalonic acidemia (MAA) in a Chinese patient.Methods: Patient with clinical diagnosis and parents were analyzed in this study. The analysis included medical histories, clinical analysis, and genetic tests. A NGS panel include MUT,MMAA,MMAB,MMADHC and MCEE genes was identify the pathogenic mutation responsible for the MAA and verified by Sanger.Results: A...

Background: Short stature can be caused by mutations in a multitude of different genes. Cockayne Syndrome is a rare growth disorder marked by progressive growth failure, neurologic abnormality. The current report describes a patient with severe short stature and neurologic abnormality.Methods: Patient with clinical diagnosis and parents were analyzed in this study. The analysis included medical histories, clinical analysis, and genetic tests. The gene wa...

Background: The growth pattern of normal children was inappropriately used to evaluate those who with DSD.Objective: To understand growth and development of the 46, XY disorders of sex development (DSD) children, drawing height, weight and BMI curve of children with 46, XY DSD at the age of 0–16.Method: The registration database was used in this study. Non- CAH 0-16 years old 46, XY DSDs were collected. Growth curves were fitt...

Objective: To investigate the role of serum anti-mullerian hormone (AMH) and inhibin-B (INHB) in central precocious puberty precocious puberty (CPP) and early and fast puberty (EFP).Methods: A total of 423 girls with CPP, EFP, premature thelarche (PT) and undeveloped healthy who were treated in our Hospital from October 2020 to December 2022 were collected. General data, sex hormones, AMH, INHB levels and gonad ultrasoun...

Background and objectives: Dyslipidemia especially hypercholesterolemia attracts much more attention recently. Given different management and treatment of multiple categories, precise diagnosis becomes increasingly important. However, studies in pediatric patients lacks around the world, especially in China. Consequently, this study was designed to confirm the molecular defect of persistent hypercholesterolemia with next-generation sequencing basing on a singl...