hrp0095p1-523 | Growth and Syndromes | ESPE2022

The diagnosis of aortic dilatation in Chinese children and adolescents with Turner syndrome

Wei Su , Longwei Sun , Zhuoguang Li , Xia Liu , Longjiang Zhang , Xiu Zhao , Shumin Fan , Boning Li , Ying Xie , Weiwei Xiao , Zhe Su

Objective: Patients with Turner syndrome (TS) have an increased risk of aortic dilatation (AD), which is associated with higher mortality. The diagnosis of AD in children is more difficult than that in adults. This study aimed to investigate the application of cardiovascular assessment criteria in diagnosing AD in Chinese children and adolescents with TS.Methods: In this retrospective study, a comprehensive cardiovascula...

hrp0095p2-191 | Growth and Syndromes | ESPE2022

A case report of gonadal Y-chromosome mosaicism 45, X Turner syndrome complicated by HCG-secreting gonadoblastoma

Zheng Rujiang , Ma Huamei , Liu Juncheng , Chen Huadong , Liang Jianbo , Chen Hongshan , Li Yanhong , Chen Qiuli , Zhang Jun , Guo Song , Wang Bing , Du Minlian

Objective: We report a case of a 5y3m patient who complained of breast development with "45, X Turner syndrome (TS) and HCG-secreting gonadoblastoma (Gb)" with Y chromosome mosaicism. Aim to understand the diagnosis of TS and improve the diagnosis and treatment of HCG-secreting tumors.Methods: The data of clinical diagnosis and treatment of this patient were summarized, and the literatures were reviewed.<p ...

hrp0095p2-254 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Intracranial beta human chorionic gonadotropin(β-hCG)-secreting germ cell tumor in a girl with central precocious puberty

Huang Meng-tian , Zheng Ru-jiang , MA Hua-mei , LI Yan-hong , Jiang Bo , Huang Li-Bin , Guo Song , Zhang Jun , Chen Qiu-Li

Background: Precocious puberty is common in boys occasionally in girls with beta human chorionic gonadotropin (β-hCG)-secreting intracranial tumors, and is reported to be peripheral precocious puberty exclusively.Object: To described a girl with intracranial β-hCG-secreting germ cell tumor(GCT) who presented with central precocious puberty(CPP).Method:<...

hrp0082fc2.5 | Bone &amp; Mineral | ESPE2014

Pharmacokinetics and Pharmacodynamics of a Human Monoclonal Anti-Fibroblast Growth Factor 23 Antibody (KRN23) Following 4 Month Intra-Dose Escalation in Adults with X-Linked Hypophosphatemia

Zhang Xiaoping , Imel Erik , Ruppe Mary , Weber Thomas , Klausner Mark , Ito Takahiro , Vergeire Maria , Humphrey Jeffrey , Glorieux Francis , Portale Anthony , Insogna Karl , Peacock Munro , Carpenter Thomas

Background: In X-linked hypophosphatemia (XLH), abnormally elevated serum fibroblast growth factor 23 (FGF23) results in low renal maximum threshold for phosphate reabsorption (TmP/GFR), low serum phosphorus (Pi), inappropriately normal 1,25-dihydroxyvitamin D (1,25(OH)2D) and development of rachitic deformities.Methods: Up to four s.c. KRN23 doses were given every 28 days to 28 adults with XLH according to a dose-escalation algorithm (0.05&#1...

hrp0082fc2.6 | Bone &amp; Mineral | ESPE2014

Efficacy and Safety Following 4 Monthly s.c. Doses of a Human Anti-Fibroblast Growth Factor 23 Antibody (KRN23) in Adults with X-linked Hypophosphatemia

Peacock Munro , Imel Erik , Zhang Xiaoping , Ruppe Mary , Weber Thomas , Klausner Mark , Ito Takahiro , Vergeire Maria , Humphrey Jeffrey , Glorieux Francis , Portale Anthony , Insogna Karl , Carpenter Thomas

Background: In X-linked Hypophosphatemia (XLH), abnormally elevated serum Fibroblast Growth Factor 23 (FGF23) results in low renal maximum threshold for phosphate reabsorption (TmP/GFR), low serum phosphorus (Pi), inappropriately normal 1,25-dihydroxyvitamin D (1,25(OH)2D) and development of rachitic deformities.Methods: Up to four SC KRN23 doses were given every 28 days to 28 adults with XLH (26 completed) according to a dose-escalation algorithm (0.05&...

hrp0082p1-d2-35 | Bone | ESPE2014

Assessment of Quality of Life Data After 4 Monthly S.C. Doses of a Human Monoclonal Anti-Fibroblast Growth Factor 23 Antibody (KRN23) in Adults with X-linked Hypophosphatemia

Ruppe Mary , Zhang Xiaoping , Imel Erik , Weber Thomas , Klausner Mark , Ito Takahiro , Vergeire Maria , Humphrey Jeffrey , Glorieux Francis , Portale Anthony , Insogna Karl , Peacock Munro , Carpenter Thomas

Objectives: In X-linked hypophosphatemia (XLH), abnormally elevated serum Fibroblast growth Factor 23 (FGF23) results in low renal maximum threshold for phosphate reabsorption, low serum phosphorus, inappropriately normal 1,25-dihydroxyvitamin D, and development of rachitic deformities. The effect of KRN23 on health-related quality of life (HRQL) was assessed.Methods: Open-label KRN23 was given s.c. every 28 days up to four doses to 28 adults with XLH (2...

hrp0094p2-332 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Evaluating Safety, Efficacy, and Pharmacokinetics of Weekly TransCon CNP in Children with Achondroplasia: Design of the ACcomplisH Trial

McDonnell Ciara , Irving Melita , Zarate Yuri , B. Hove Hanne , Hogler Wolfgang , Hoernschemeyer Daniel , Zhang Ying , Viuff Dorthe , Hartoft-Nielsen Marie-Louise , Beckert Michael , Savarirayan Ravi ,

Achondroplasia (ACH) is the most common form of dwarfism, occurring in 1: 20,000 births. ACH is caused by gain-of-function mutations in the fibroblast growth factor receptor 3 (FGFR3) gene that interfere with endochondral ossification. Clinically significant morbidities are frequent in ACH; however, there are currently no approved therapies that target the underlying pathobiology. C-type natriuretic peptide (CNP) is an attractive target as it has the potential to inhi...

hrp0097p1-135 | Multisystem Endocrine Disorders | ESPE2023

A novel heterozygous variant of FOXJ1 in a Chinese female with primary ciliary dyskinesia and hydrocephalus: A case report and literature review

Gao hiyang , Zhang Qianwen , Feng Biyun , Gu Shili , Li Zhiying , Sun Lianping , Yao Ru-en , Yu Tingting , Ding Yu , Wang Xiumin

Background: Primary ciliary dyskinesia (PCD) is a type of ciliary dyskinesia that is usually caused by autosomal recessive inheritance and can manifest as recurrent respiratory infections, bronchiectasis, infertility, laterality defects, and chronic otolaryngological disease. Although ependymal cilia, which affect the flow of cerebrospinal fluid in the central nervous system, have much in common with respiratory cilia in terms of structure and function, hydroc...

hrp0098fc5.5 | Growth and Syndromes | ESPE2024

Phase 2 Trial of Vosoritide Use in patients with Hypochondroplasia: Pharmacokinetic/ Pharmacodynamic analysis from 12 Month Data

Galetaki Despoina , Zhang Anqing , Qi Yulan , merchant Nadia , Kanakatti Shankar Roopa , Boucher Kimberly , Shafaei Niusha , Seaforth Raheem , Dham Niti , Dauber Andrew

Objectives: Vosoritide is a C-type natriuretic peptide (CNP) analog that binds its receptor on chondrocytes, promoting growth by inhibiting the ERK1/2-MAPK pathway. We previously reported the results of a Phase II study in children with hypochondroplasia. Vosoritide led to an average increase in annualized growth velocity (GV) of 1.81 cm/year and gain of 0.36 in height SD over 12 months. We present here the pharmacokinetic/ pharmacodynamic (PK/PD) data from th...

hrp0098p1-58 | GH and IGFs 1 | ESPE2024

Somapacitan is Effective and Well Tolerated in Chinese Children with GHD: 52-week Results from the Randomized Phase 3 REAL6 Trial

Fu Junfen , Cheng Xinran , Højby Michael , Gong Chunxiu , Lund Leunbach Tina , Li Yanhong , Wei Haiyan , Zhu Yu , Zhang Yining , Zhong Yan

Somapacitan is currently the only long-acting GH approved by FDA, PDMA and EMA to treat GH deficiency (GHD) in both children and adults. Similar efficacy, safety, and tolerability in children with GHD was demonstrated for somapacitan (0.16 mg/kg/week) compared to daily GH (0.034 mg/kg/day) in the global phase 3 REAL4 study, which was conducted in 20 countries within Asia (excluding China), Europe, and North America. Efficacy and safety of somapacitan in Chinese children with G...