ESPE Abstracts

Background: It is now widely accepted that chemical pollutants in the environment can interfere with the endocrine system. The impact of endocrine disrupting chemicals on puberty disorders is concerned. bisphenol-A (BPA) has been measured in fetal plasma. There are different toxic effects with different doses of BPA.Objective and hypotheses: To observe vaginal opening day (VOD), hypothalamic kiss-1 gene and ovarian estrogen receptors (ER) gene expression...

The action of Thyroid hormone (T3) is mediated by the binding to nuclear receptors (TRa1, TRα1/2), which are ligand dependent transcription factors, encoded by the THRA and THRB genes. THRA germline mutations cause a rare genetic disease called resistance to thyroid hormone α (RTHα) first reported in 2012 . Only 20 missense and frameshift mutations have been reported to date, From this small group of patients, and analysis of animal models, it emerges that the d...

Background: Anti-Müllerian hormone (AMH) and inhibin B (INHB) are two hormones investigated as markers of ovarian reserve in female. serum AMH and INHB levels change through the progression of puberty, and might be markers for identifying pubertal progression rate in girls.Objective and hypotheses: To invetigate serum AMH and INHB levels as markers of pubertal progression rate in girls with central precocious puberty (CPP).Met...

Background: Congenital hypothyroidism (CH) is a condition that characterize by the deficiency in thyroid hormone. CH has a proximate prevalence of one in 4 000 newborns. Major CH cases were reported to be linked with mutations in TSHR, PAX8, NKX2.1, NKX2.5 and FOXE1 genes.Objective and hypotheses: The clinical presentation of CH patients caused by PAX8 mutations are variable and PAX8 mutation rates differ significantly among different p...

Background: FLNB encodes filamin B (FLNB), a protein expressed in human growth plate chondrocytes, building the cytoskeleton that gives structure to cells and allows them to change shape and move. Biallelic loss-of-function mutations in FLNB result in spondylocarpotarsal synostosis (SCT; OMIM: 272460), while heterozygous null mutations related isolated short stature (ISS) have not been well described previously.Objective:</strong...

Objective: To explore the clinical manifestations and genetic characteristics of 10 patients with ACAN variants presented as short stature, and analyze the efficacy of recombinant human growth hormone (rhGH) and/or combined with gonadotropin-releasing hormone agonist (GnRHa) in some patients with premature thelarche.Methods: We reviewed clinical data of 10 patients with ACAN variants. Genetic testing was performed on pro...

Objective: To investigate the clinical efficacy of GnRHa in the treatment of girls with post-menarche in ICPP or rapidly progressive puberty（RPP）. To analyze the effect of GnRHa combined with rhGH on growth velocity (GV) and predicted adult height (PAH) in the process of GnRHa treatment with too low growth velocity.Methods: Retrospective analysis of the clinical data of 55 post-menarche ICPP/RPP girls withi...

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...