hrp0084p2-571 | Thyroid | ESPE2015

Mutation Screening of the TSH Receptor Gene in a Cohort of 192 China Patients with Congenital Hypothyroidism

Fu Chunyun , Chen Yun

Background: Congenital hypothyroidism (CH) is a common endocrine disorder with a prevalence ranging from 1:2000 to 1:4000 newborns. The majority of CH cases were reported to be associated with mutations in several genes, which including the TSH receptor gene (TSHR).Objective and hypotheses: The aim of this study is to examine the frequency of TSHR gene mutations among CH patients in the Guangxi Zhuang Autonomous Region of China and to discover correlatio...

hrp0097p1-296 | GH and IGFs | ESPE2023

The efficacy and safety of rhGH treatment combined with letrozole/GnRHa in adolescent boys

Zhang Ying , Chen Ruimin

Objective: In boys during puberty who were undergoing recombinant human growth hormone (rhGH) treatment, we compared the therapeutic efficacy and any adverse reactions, of co-therapy with letrozole/gonadotropin releasing hormone analog (GnRHa).Methods: Fifty-six pubertal growth hormone deficiency (GHD) boys were studied, they were treated with the combination of letrozole and rhGH (letrozole group) or GnRHa and rhGH (GnR...

hrp0097p1-111 | Growth and Syndromes | ESPE2023

The phenotypic spectrum of Kenny-Caffey type 2: a case series and literature review

Chen Xuefei , Zou Chaochun

Context: Kenny–Caffey syndrome (KCS) is a rare condition characterized by proportionate short stature, cortical thickening and medullary stenosis of tubular bones, delayed closure of the anterior fontanelle, ocular and dental anomalies, and variable hypocalcemia due to hypoparathyroidism. KCS is classified into two types according to its clinical features and inheritance pattern. KCS Type 2 (KCS2) is caused by mutations in FAM111A and is distinguished fr...

hrp0097p1-150 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Comparative of serum estradiol levels in girls with different types of precocious puberty by liquid chromatography tandem-mass spectrometry and chemiluminescence immunoassay method

Chen Linqi , Shen Xinyi

Objectives: To compare the levels of E2 in girls measured by LC-MS/MS and CLIA, and to evaluate the correlations between E2 levels and bone age, uterine length, and uterine volume.Methods: 133 newly diagnosed girls were selected. There were 80 girls in the ICPP group (44 in the Tanner II stage in the ICPP group, 36 in the Tanner III in the ICPP group), and 53 in the PT group, 40 healthy girls in the Tanner III gro...

hrp0097p1-355 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Effects of probiotic supplementation during childhood on the gut microbiota when puberty onset in lactating female mice

Yuan Xin , Chen Ruimin

Background: The relationship between probiotic supplementation and puberty onset has not been explored.Objective: To investigate the effects of probiotics oral intake during childhood on the gut microbiota when puberty onset in lactating female mice.Method: Feeding female mice with probiotic suspension of Bifidobacterium longum, Lactobacillus bulgaricus and Streptococcus thermophil...

hrp0097p1-377 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Prognostic Factors and Long-Term Safety of GnRHa in the Treatment of Idiopathic Central Precocious Puberty in Girls

Wu Wenyong , Chen Ruimin

Objective: To investigate the relevant prognostic factors and long-term safety of gonadotropin-releasing hormone analogs (GnRHa) in the treatment of idiopathic central precocious puberty (ICPP).Methods: This was a retrospective study. Data analysis included 142 girls with ICPP who reached final adult height (FAH). Among them, 101 girls were treated with GnRHa while 41 girls were untreated. The Pearson and Spearman correl...

hrp0097p2-299 | Late Breaking | ESPE2023

Comparative of serum estradiol levels in girls with different types of precocious puberty by liquid chromatography tandem-mass spectrometry and chemiluminescence immunoassay method

Chen Linqi , Shen Xinyi

Objectives: To compare the levels of estradiol (E2) in girls measured by liquid chromatography tandem-mass spectrometry (LC-MS/MS) and chemiluminescence immunoassay (CLIA), and to evaluate the correlations between E2 levels measured by the two methods and bone age, uterine length, and uterine volume. To explore the difference, consistency, and accuracy of LC-MS/MS and CLIA in determining E2 in girls with idiopathic central precocious puberty (ICPP), premature ...

hrp0097p1-215 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Clinical and genetic characteristics of primary hypoparathyroidism in children:two-center experience in China

Shen Yingxiao , Yang Wei , He Qin , Xu Xiaoqin , Huang Ke , Dong Guanping , Fu Junfen , Wei Haiyan , Wu Wei

Object: To analyze the clinical and genetic characteristics of primary hypoparathyroidism in children from two children's hospitals in China.Methods: This study includes 47 patients (26 males, 21 females), who were diagnosed with primary hypoparathyroidism in Children's Hospital of Zhengzhou University and Children's Hospital of Zhejiang University School of Medicine from January 2015 to November 2022. We ...

hrp0082p2-d3-401 | Fat Metabolism & Obesity (2) | ESPE2014

Mannose Binding Lectin and Carotid Intima–Media Thickness in Chinese Obese Children

Wu Wei , Cheng Liqing , Fu Junfen

Background: Mannose binding lectin (MBL) is an important innate immune molecule and is previously found to be related to artery damage in some diseases as SLE rheumatoid arthritis and severe atherosclerosis. However, its role in artery change is still contradictory according to different studies. We found the carotid intima–media thickness (CIMT) increased in obese children which indicated an early change of atherosclerosis.Objective and hypotheses:...

hrp0084p3-647 | Bone | ESPE2015

Vitamin D Dependent Rickets Type 1A with Genetic Analysis in Three Chinese Children

Li Wenjing , Gong Chunxiu , Wei Liya

Background: Vitamin D dependent rickets type 1A (VDDR1A) is a rare disease caused by CYP27B1 mutations which encodes vitamin D 1α-hydoxylase.Objective and hypotheses: Vitamin D dependent rickets type 1A features of three Chinese cases with CYP27B1 mutations and report the experience of medication for severe hypocalcaemia.Method: Summarise their clinical features analyse the CYP27B1 and vitamin D receptor (VDDR) mutations.<...