ESPE Abstracts

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...

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...

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...

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...

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...

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...

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 ...

Objective: To explore the therapeutic effects and adverse reactions of a combination of letrozole or Gonadotropin releasing hormone analog (GnRHa) and recombinant human growth hormone (rhGH), compared with rhGH alone, in pubertal short boys.Methods: Sixty-four pubertal short boys were divided into three groups, one group were treated with rhGH (rhGH group, n=21), one group were treated with the combination o...

We have examined a female child patient aged about 3 years and 8months old to confirm the diagnosis of Schmid metaphyseal chondrodysplasia (SMCD) at the Genetics out-patient department, Children's Hospital Affiliated to Zhengzhou University. The child was diagnosed with the abnormal phenotypic characteristics who showed short-limbed dwarfism, bowed legs, waddling gait and genu varum. Based on the child's family history, during the early stages, the child was misdiagnos...

Objective: To know more about the etiology and mechanism of antibody-negative diabetes, screening MODY pathogenicity genes and deepening understanding of islet autoantibody-negative diabetes, so as to individualized precision treatment.Methods: A total of 31 subjects with diabetes who had negative islet autoantibodies and C-peptide ≥0.3 ng/ml were collected. Another group was the type 1 diabetes control group, After informed consent obtained patien...