hrp0098p1-118 | Bone, Growth Plate and Mineral Metabolism 2 | ESPE2024

Patient-Centred Data Collection Provides Comprehensive Insights into Healthcare Resource Use in Achondroplasia: Data From the Pilot Phase of the VIrtual STudy in Achondroplasia (VISTA)

Pimenta Jeanne , Abner Sophia , Chen Joy , Chu Dorna , Dosenovic Sara , Horvathova Veronika , Fettes Fiona

Background: Achondroplasia (ACH) is a rare genetic condition caused by a gain-of-function variant in the fibroblast growth factor receptor 3 (FGFR3) gene. It results in severe disproportionate short stature and medical complications requiring multidisciplinary care. Vosoritide, a C-type natriuretic peptide analogue, is currently the only approved targeted treatment for children with ACH from birth to epiphyseal closure. Understanding real-world ACH management ...

hrp0098p1-300 | Late Breaking 1 | ESPE2024

The Diagnostic and Therapeutic Monitoring Value of Morning Urinary Gonadotropins for Central Precocious Puberty in Girls with Different BMI

Xu Huijiao , Yuan Xin , Wu Wenyong , Hu Zhijian , Chen Ruimin , Luo Xiaoping

Objective: To explore the diagnostic value of morning urinary gonadotropins for assessing central precocious puberty (CPP) in girls with varying BMI and the potential use of first morning voided urinary luteinizing hormone (FMV ULH) in monitoring CPP treatment.Methods: A total of 335 precocious puberty girls were selected. Data of serum luteinizing hormone (LH), follicle stimulating hormone (FSH), gonadotropin-releasing ...

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...

hrp0092p3-106 | Fat, Metabolism and Obesity | ESPE2019

Phenotypic and Genotypic Properties of Children with Suspicion of Monogenic Obesity

Ayranci Ilkay , Çatli Gönül , Eroğlu Filibeli Berna , Yiğit Gülşahin Elif , Özyilmaz Berk , Manyas Hayrullah , Nuri Dündar Bumin

Results: Total of 47 obese patients (20 females, 39 pubertals, mean age of 14.3 years).±3.2 years) were included in the study. Severe obesity present in 85% of patients, early-onset obesity in 51%, consanguinity among parents in 17%, and at least one parent with obesity in 63.8% were present. 55.3% of the patients had a family history of diabetes, 63% had acanthosis nigricans and 77% had striae. Anthropometric and laboratory ch...

hrp0086fc12.4 | Neuroendocrinology | ESPE2016

Idiopathic Hypogonadotrophic Hypogonadism Caused by Inactivating Mutations in SRA1

Kotan Leman Damla , Cooper Charlton , Darcan Sukran , Carr Ian , Ozen Samim , Yan Yi , Hamedani Mohammad K. , Gurbuz Fatih , Mengen Eda , Turan Ihsan , Ulubay Ayca , Akkus Gamze , Yuksel Bilgin , Leygue Etienne , Topaloglu Kemal

Background: What initiates pubertal process in humans and other mammals has remained elusive.Objective and hypotheses: We hypothesize that gene(s), whose products trigger the GnRH pulse generator to restart ticking at the usual time of puberty, can be identified via autozygosity mapping together with whole exome sequencing in patients with idiopathic hypogonadotrophic hypogonadism (IHH).Method: We studied a cohort IHH cases. Functi...

hrp0084p2-248 | Diabetes | ESPE2015

Genetic Analysis and Follow-Up of 23 Neonatal Diabetes Mellitus Patients in China

Bingyan Cao , Chunxiu Gong , Di Wu , Chaoxia Lu , Fang Liu , Xiaojing Liu , Ying-xian Zhang , Yi Gu , Zhan Qi , Xiaoqiao Li , Min Liu , Wenjing Li , Chang Su , Xuejun Liang , Mei Feng

Objective: To study the clinical features and gene mutations of neonatal diabetes mellitus (NDM) in Chinese patients.Methods: Patients with clinically diagnosed NDM were subjected to genetic screening by targeted gene capture of the genes associated with glucose metabolism, and followed up.Results: Of the 23 cases of NDM studied, 16 (69.6%) were permanent neonatal diabetes mellitus (PNDM), 6 (26.1%) were transient neonatal diabetes...

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...

hrp0098p1-304 | Late Breaking 2 | ESPE2024

ER stress relief drives ß-cell proliferation

Bourgeois Stephanie , Staels Willem , Van Mulders Annelore , Willems Lien , Coenen Sophie , Degroote Laure , Pierreux Julie , Leuckx Gunter , Heremans Yves , De Leu Nico , Heimberg Harry , Cnop Miriam , Yi Xiaoyan , Movahedi Kiavash , Kancheva Daliya , Scheyltjens Isabelle , de Koning Eelco , Carlotti Françoise

Introduction: Regenerating endogenous pancreatic β-cells is a potentially curative yet currently elusive strategy for diabetes therapy. Mimicking the microenvironment of the developing pancreas and leveraging vascular signals, critical to pancreatic endocrinogenesis, may promote β-cell regeneration. We aimed to investigate whether recovery from experimental hypovascularization of the endocrine pancreas could trigger mouse ß-cell proliferation.<...

hrp0098p2-316 | Late Breaking | ESPE2024

A critical role for iron import through the transferrin receptor in developing ß-cells.

Van Mulders Annelore , Staels Willem , Lien Willems , Coenen Sophie , Bourgeois Stephanie , Xiaoyan Yi , Yue Tong , Leuckx Gunter , Heremans Yves , De Koning Eelco , Carlotti Francoise , Scharfmann Raphael , Cnop Miriam , De Leu Nico

Introduction: The transferrin receptor (TFRC) is abundant on the surface of ß-cells compared to neighboring α- and ∂-cells, suggesting an important role of iron in ß-cell biology. The precise impact of iron on ß-cell development, function, and survival remains elusive. Here, we investigated the role of iron metabolism in mouse and human ß-cells through chemical and genetic modulation of iron supply.<str...

hrp0092p1-277 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

New Insights from Unbiased Panel and Whole-Exome Sequencing in a Large Chinese Cohort with Disorders of Sex Development

Xu Yufei , Wang Yirou , Li Niu , Yao Ruen , Li Guoqiang , Li Juan , Ding Yu , Chen Yao , Huang Xiaodong , Chen Yuling , Qing Yanrong , Yu Tingting , Shen Yongnian , Wang Xiumin , Shen Yiping , Wang Jian

Context: Diagnosis of non-chromosomal type disorders of sex development (DSD) has long been challenging. There is still no research on overview of a large Chinese DSD cohort.Objective: To determine the etiologic diagnosis through unbiased large-scale panel sequencing and whole-exome sequencing (WES) within a large Chinese DSD cohort.Design: Patients were recruited according to the ...