hrp0095p1-117 | Growth and Syndromes | ESPE2022

The elevated levels of Fetuin-A and FGF21 are correlated with metabolic indicators in Turner syndrome

Yao Qian , Chen Ruimin , Yuan Xin , Zhang Ying , Shangguan Huakun , Lin Xiangquan , Yang Xiaohong

Objective: To find the roles of Fetuin-A and FGF21 in metabolic disorders through investigating the correlations between Fetuin-A, FGF21 with metabolic indicators in girls with Turner syndrome (TS).Methods: A cross-sectional study of TS girls ranging from 5 to18 years and age-, body mass index (BMI)- matched healthy girls were recruited from the outpatients in Fuzhou Children’s Hospital of Fujian Medical University...

hrp0095p1-124 | Growth and Syndromes | ESPE2022

Analysis of Clinical Features and Causative Genes in 48 Children with Short Stature of Unknown Etiology

Hou Lele , Lin Shaofen , Liu Zulin , Ou Hui , Zhang Lina , Huang Siqi , Meng Zhe , Liang Liyang

Objective: To analyze the clinical features and causative genes in children with undiagnosed short stature and study the causative genes in our hospital. Methods Clinical manifestations, laboratory test and whole exome sequencing (WES) results of children with undiagnosed short stature who visited pediatric endocrinology department of our hospital from January 2018 to August 2019 were analyzed retrospectively. Causative genes were classified and analyzed accor...

hrp0095p1-307 | Growth and Syndromes | ESPE2022

A Prospective Clinical Trial of Vosoritide in Hypochondroplasia: Baseline Demographics and Preliminary Results

Dauber Andrew , McCarthy Tara , Zhang Anqing , Merchant Nadia , Boucher Kimberly , Dham Niti , Kanakatti Shankar Roopa

Objectives: Vosoritide is a C-type natriuretic peptide analog which binds its receptor on chondrocytes, leading to increased chondrocyte proliferation and differentiation via its inhibition of the ERK1/2-MAPK pathway. It was recently approved for increasing linear growth in children with achondroplasia. This is the first study to examine the safety and efficacy of vosoritide in children with hypochondroplasia.Methods: Th...

hrp0095p1-363 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Medium-and long-term follow-up observation of the efficacy and safety of GnRHa in the treatment of five cases of central precocious puberty caused by hypothalamic hamartoma

Huang Siqi , Meng Zhe , Liu Zulin , Zhang Lina , Hou Lele , Ou Hui , Liang Liyang

Background: Hypothalamic hamartoma (HH) is the most common cause of organic central precocious puberty (CPP). Gonadotropin-releasing hormone analogue (GnRHa) is widely used in the treatment of HH combined with CPP, but there is no report on the medium-and long-term efficacy and safety of HH in China.Objective: To investigate the medium-and long-term efficacy and safety of GnRHa in the treatment of children with CPP cause...

hrp0095p1-394 | Thyroid | ESPE2022

Analysis on the influencing factors of neonatal serum FT3, FT4 and TSH

Zhang Cong , Zheng Rongxiu , Ma Shifeng , Wu Chushan , Liu Xiaoxiao , Cheng Siqi , Zhao Yue , Jiang Haiyan

Background: With the increasing survival rate of extremely premature infants, neonatal thyroid dysfunction is more frequently observed clinically. Despite the guidelines, the timing of screening for neonatal thyroid function remains controversial, especially for premature infants. At present, there is no unified standard for serum FT3, FT4 and TSH levels of newborns of different gestational ages and postnatal days.Objective:</str...

hrp0095p2-10 | Adrenals and HPA Axis | ESPE2022

Long-term Outcomes for Ninety-four Boys with Central Precocious Puberty or Early and Fast Puberty in Chinese Boys

Chen Zhixin , Chen Qiuli , Li Yanhong , Ma Huamei , Zhang Jun , Guo Song

Objective: To assess the efficacy and influential factors of GnRHa treatment for Chinese CPP/EFP boys.Methods: From April, 1994 to June, 2020, 94 boys diagnosed with CPP or EFP who had reached the final adult height were retrospectively included. Among these patients, 41 patients received no treatment, 43 patients received GnRHa treatment alone and 10 patients received GnRHa + GH treatment. The final adult height and the...

hrp0095p2-23 | Adrenals and HPA Axis | ESPE2022

Primary pigmented nodular adrenocortical disease in a young boy associated with a rare somatic mutation of the PRKACA: case report and literature review

Xu Yu-ying , Li Yan-hong , Chen Qiu-li , Ma Hua-mei , Zhang Jun , Guo Song

Introduction: Cushing's syndrome(CS) is rare in the pediatric population, and the cause vary with age. Primary pigmented nodular adrenocortical disease (PPNAD) is one of the causes of CS, though it is a rare disorder. It has been proposed that in children with CS, PPNAD should be suspected. Here we report a young boy with CS due to PPNAD associated with a somatic mutation of the PRKACA.Case Presentation: The child w...

hrp0095p2-216 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

β-hcg secreting intracranial germinoma in a girl with isosexual precocious puberty : A case report and review of literature

Chen Zhixin , Chen Qiuli , Ma Huamei , Li Yanhong , Zhang Jun , Guo Song

Objective: To analyze the clinical characteristics and treatment of non-germinomatous germ cell tumor (NGGCT) in one girl with the initial onset of homosexual peripheral precocious puberty (PPP) and central diabetes insipidus (CDI) and eventually progressed into central precocious puberty (CPP).Methods: The clinical data of a girl who was diagnosed as NGGCT with the onset of PPP and CDI and eventually progressed into CPP...

hrp0092rfc1.5 | Diabetes and Insulin Session 1 | ESPE2019

Decreased Circulating Levels of MOTS-c in Individuals with Newly Diagnosed Type 1 Diabetes Children

Du Caiqi , Zhang Cai , Liang Yan , Wu Wei , Hou Ling , Luo Xiaoping

Background and Aims: A novel bioactive peptide, mitochondrial-derived peptide (MOTS-c), has recently attracted interests as a potential prevention or therapeutic option for obesity and type 2 diabetes mellitus in mice. MOTS-c profiles have not yet been reported in type 1 diabetes (T1DM). We aimed to determine circulating MOTS-c levels in T1DM and explore the association between MOTS-c levels and various metabolic parameters.Metho...

hrp0092p1-183 | Diabetes and Insulin (1) | ESPE2019

Study on the Mechanism of Metformin in Improving PGRN-Induced Insulin Resistance of 3T3-L1 Cell

Huang Siqi , Liang Liyang , Meng Zhe , Zhang Lina , Hou Lele , Liu Zulin , Chen Hongshan

To investigate the effect of metformin on the PERK-eIF2a pathway in PGRN - induced insulin - resistant cell model. METHODS: The 3T3-L1 Insulin-resistance cell model was constructed by dexamethasone and PGRN. Metformin was used to act on the cell model to screen out the optimal concentration group for reducing PGRN,The experiment was divided into the normal control group, dexamethasone group, and PGRN group. 4-PBA and metformin were used to act respectively.Western Blot was use...