hrp0097lb1 | Late Breaking | ESPE2023

Familial hCG Syndrome in two Chinese Families with elevated hCG level concurrently in blood and cerebrospinal Fluid

Huang Mengtian , Zhang Jun , Ma Huamei , Li Yanhong , Zheng Rujiang , Chen Qiuli , Liu Liulu

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...

hrp0097lb15 | Late Breaking | ESPE2023

Metabolic Status in children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Huang Mengtian , Ma Huamei , Du Minlian , Chen Hongshan , Li Yanhong , Chen Qiuli , Zhang Jun , Guo Song

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 ...

hrp0098p1-85 | Pituitary, Neuroendocrinology and Puberty 1 | ESPE2024

Do aromatase inhibitors used during adolescence affect male reproductive function in adulthood? An exploratory study.

Dai Chengjun , Ding Jingchao , Zhang Junrong , Zhu Jianfang , Fang Yanlan , Wang Chunlin

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...

hrp0098p2-130 | Fat, Metabolism and Obesity | ESPE2024

Genetic etiology and clinical phenotype of childhood obesity based on whole exon sequencing technology

Yang Yu , Huang Hui , Liang Yiwei , Yang Li , Xie Liling , Zhang Dongguang

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...

hrp0098p2-348 | Late Breaking | ESPE2024

Do aromatase inhibitors used during adolescence affect male reproductive function in adulthood? An exploratory study.

Dai Chengjun , Ding Jingchao , Zhang Junrong , Zhu Jianfang , Fang Yanlang , Wang Chunlin

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 ...

hrp0098p3-227 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2024

A de novo novel heterozygous deletion mutation in steroidogenic factor 1 gene (NR5A1) in a 46,XY female with sex reversal, primary adrenal insufficiency and splenic aplasia: A 13 years follow-up

Wang Danyi , Ma Huamei , Zhang Jun , Du Minlian , Li Yanhong , Chen Qiuli

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...

hrp0098p3-312 | Late Breaking | ESPE2024

Association between Small for Gestational Age and Mental Disorders: A Systematic Review and Meta-Analysis

Tian Anran , Meng Fucheng , Li Sujuan , Liang Furong , Zhang Cai , Luo Xiaoping

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...

hrp0097rfc1.5 | Adrenals and HPA Axis | ESPE2023

Clinical and Genetic Characteristics of 42 Chinese Paediatric Patients with X-Linked Adrenal Hypoplasia Congenita

Zheng Wanqi , Duan Ying , Xia Yu , Liang Lili , Gong Zhuwen , Wang Ruifang , Lu Deyun , Zhang Kaichuang , Yang Yi , Sun Yuning , Zhang Huiwen , Han Lianshu , Gong Zizhen , Xiao Bing , Qiu Wenjuan

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...

hrp0095p1-463 | Fat, Metabolism and Obesity | ESPE2022

Clinical characteristics of sitosterolemic children with xanthomas as the first manifestation

Zhang Jun , Chen Qiu-li , Guo Song , Li Yan-hong , Li Chuan , Zheng Ru-jiang , Ma Hua-mei

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...

hrp0095p1-123 | Growth and Syndromes | ESPE2022

Single center analysis of the characteristics of 24-hour ambulatory blood pressure and related factors in patients with Turner syndrome

Zheng Rujiang , Chen Hongshan , Huang Huiling , Ma Huamei , Li Yanhong , Chen Qiuli , Zhang Jun , Guo Song , Wang Bing , Du Minlian

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...