ESPE Abstracts

Objective: To explore the genotypes and phenotypes of 19 patients with ACAN variants presented as short stature with or without premature thelarche and abnormal intellectual development. Then the therapeutic response to recombinant human growth hormone (rhGH) and/or gonadotropin-releasing hormone agonist (GnRHa) were analysed.Methods: We reviewed clinical data of 19 patients with ACAN variants. Genetic ...

Objective: To highlight the clinical characteristics and early genetic diagnosis of Schaaf-Yang syndrome (SYS).Methods: Three cases were reported and related literature were reviewed.Results: All the three patients were diagnosed with Schaaf-Yang syndrome attributing to the variation of MAGEL2 gene. Two of the patients predominantly presented as "language dysplasia&#34...

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...

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...

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...