hrp0092p3-325 | Late Breaking Abstracts | ESPE2019

45X/47XXX Mosaicism and Progressive Puberty

liu ziqin , chen xiaobo

Objective: To report a case girl with 45X/47XXX mosaic Turner syndrome exhibiting a progressive puberty.Design: Case reportResult: A 9 years 4 months old girl was presented with growth retardation. Chromosome analysis revealed a mosaic karyotype 45X/47XXX. She presented with normal height but much lower than the mid-parental height. During annual check-ups, her growth rate was acce...

hrp0089p1-p146 | GH & IGFs P1 | ESPE2018

Laron Syndrome Patients have an Abnormal Plasma Amino Acid Pattern

Laron Zvi , Barazani Chen

Background: Laron syndrome (LS), (OMIM#262500) is a rare recessively inherited disease caused by deletions or mutations of the GH receptor, and is characterized by low or undetectable serum IGF-I. This deficiency leads to a series of metabolic abnormalities including of the proteins.Subjects & Method: This study presents for the first time the amino-acid analysis of two untreated and one IGF-I treated LS patients using the LC-MS/MS method (Waters TQS...

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 ...

hrp0098fc13.3 | Pituitary, Neuroendocrinology and Puberty 2 | ESPE2024

Effect of Precocious Puberty and GnRHa Treatment on Glucose Metabolism in Female Rats

Lin Xiaoya , Chen Qiuli

Objective: In order to investigate the effect of precocity and gonadotropin-releasing hormone analogists (GnRHa) GnRHa treatment on glucose metabolism in female rats, the possible mechanism was studied through the changes of leptin, estrogen, growth hormone, insulin-like growth factor 1 and insulin receptor signal crosslinking pathway.Methods: Forty-eight 2-day-old female Sprague-Dawley (SD) suckers were randomly divided...