hrp0098p2-247 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2024

A novel CUL4B gene variant activating Wnt4/β-catenin signal pathway to 46, XY female with disorders of sex development

Wang Chunlin , Chen Hong , Chen Qingqing , Qu Yangbin , Yuan Ke , Liang Li , Yan Qingfeng

Background: 46, XY female disorders of sex development (46, XY female DSD) are congenital conditions caused by abnormal gonadal development or in androgen synthesis or action. Genes play an important role in DSD, but mechanisms are not clear. This study identified a Chinese family with the 46, XY female DSD caused by the CUL4B gene.Method: s: The proband medical history and pedigree were investigated. Variants analysis w...

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 ...

hrp0098p3-135 | GH and IGFs | ESPE2024

Exploring healthcare professionals’ perception and intent towards utilisation of digital solutions in the management of growth hormone therapies: A Taiwanese participatory study

Huang Ying-Hua , Wang Chung-Hsing , Koledova Ekaterina , Rivera Romero Octavio

Background: Digital health solutions are paving the way for the management of long-term treatment with recombinant-human growth hormone (r-hGH) administration. Understanding the utility and challenges of adopting these digital health solutions is indispensable for improving adherence and achieving optimal growth outcomes. Clinical discussions were conducted to analyse healthcare professionals’ (HCPs) perceptions regarding the potential acceptance of digi...

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...

hrp0089fc3.2 | Diabetes and Insulin 1 | ESPE2018

Genome-Wide Meta-Analysis Identifies a Novel Low Frequency STK39 Variant of Large Effect on Risk of Type 1 Diabetes

Forgetta Vincenzo , Manousaki Despoina , Ross Stephanie , Tessier Marie-Catherine , Marchand Luc , Qu Hui-Qi , Bradfield Jonathan P , Grant Struan FA , Hakonarson Hakon , Paterson Andrew , Piccirillo Ciriaco , Polychronakos Constantin , Richards J Brent

Background: The genetic etiology of Type 1 Diabetes (T1D) is well recognized, with over 60 loci being identified to date, mainly through genome-wide association studies (GWAS). Most of these genetic associations involve common variants, while a sizable portion of the missing heritability of T1D could be attributed to unidentified rare single nucleotide polymorphisms (SNPs) (minor allele frequency (MAF) < 5%). The recent availability of large human whole genome sequencing d...

hrp0098p1-80 | Pituitary, Neuroendocrinology and Puberty 1 | ESPE2024

A 12-month, Open-Label, Single-Arm, Phase 3 Trial of the Efficacy and Safety of Triptorelin 6-Month Formulation in Chinese Children with Central Precocious Puberty

Yu Xiao , Cheng Xinran , Xu Xu , Gong Chunxiu , Li Guimei , Yao Hui , Zhou Li , Zhong Yan , Yang Yu , Luo Feihong , Zhang Yining , Huang Frank , Shi Xiaofeng , Cabri Patrick , Luo Xiaoping

Objectives: The gonadotropin-releasing hormone (GnRH) analogue triptorelin is used to treat central precocious puberty (CPP) in 1-, 3- and 6-month prolonged-release (PR) formulations. Currently, only the 1- and 3-month formulations are approved for CPP in China. However, the 6-month formulation is available for CPP treatment in numerous countries; this study assessed the efficacy and safety of this formulation in Chinese children with CPP.<p class="abstext...

hrp0095p1-205 | Adrenals and HPA Axis | ESPE2022

Exploring the growth curves of 248 Chinese patients aged 0-3 years with salt-wasting 21-hydroxylase deficiency

Li Yingying , Fan Xin , Wang Yirou , Zhao Xiu , Pan Lili , Yu Yuting , Gong Gong Chunxiu , Su Zhe

Background: To construct the growth curves of body length and weight for Chinese patients from birth to 3 years with salt-wasting 21-hydroxylase deficiency (SW 21-OHD), changes in body mass index (BMI) will also be described, so as to explore the growth pattern of these special patients and guide the monitoring of early growth.Methods: The body length and weight data of SW 21-OHD patients aged 0-3 years who visited in 4 ...

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...

hrp0095p1-558 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Simultaneous quantification of 51 steroids in pediatric plasma and urine samples by LC–MS/MS

Wu Xiaoyu , Chen Yao , Li Xiaoqing , Xue Peng , Tang Jingyi , Yu Xiaodan , Zheng Liang , Wang Xiumin , Liu Shijian

Quantitative analysis of endogenous and exogenous steroid hormones is an important step for our understanding of the causes of endocrine disorders in pediatric. In this study, we developed a method to simultaneously quantify endogenous and exogenous steroids in pediatric urine and plasma. Ultra-performance liquid chromatography-tandem mass spectrometry (LC-MS/MS) was used to simultaneously quantify steroid hormones in children plasma and urine. Under the optimum conditions, th...

hrp0095p1-598 | Thyroid | ESPE2022

Retrospective analysis and literature review of five cases of thyroid hormone resistance syndrome caused by THRB gene mutation

Zhang Lidan , Zhang Caiping , Chen Xiaoyan , Ye Lei , Lu Wenli , Dong Zhiya , Wang Wei , Ma Xiaoyu , Xiao Yuan

Objective: To summarize the clinical characteristics, genetics and follow-up data of five children with thyroid hormone resistance syndrome (RTH) and review the related literatures.Methods: The clinical data of the five children diagnosed with RTH in our hospital from 2018 to 2020 were retrospectively analyzed. Next-generation sequencing of the candidate genes related to thyroid diseases was performed using the blood col...