ESPE Abstracts

Background: TRNT1 (CCA-adding transfer RNA nucleotidyl transferase) enzyme deficiency is a newly reported inborn error of metabolism caused by defective post-transcriptional modification of mitochondrial and cytosolic transfer RNAs (tRNAs). TRNT1 mutations cause a complex multisystem disease leading to manifestations in most organs. We here described the effect of growth hormone (GH) treatment on short stature in two siblings with TRNT1 deficiency.Case p...

Objective: To explore the influencing factors of girls with rapidly progressive puberty(RPP), to construct a risk prediction model of RPP in girls, to investigate the value of serum IGFBP-2, Irisin and Ghrelin in prediction of RPP in girls.Methods: 1. Construction and verification of the prediction model for girls with rapidly progressive puberty. The girls who visited the Department of Endocrinology, Children's Hos...

Vosoritide is a C-type Natriuretic Peptide (CNP) analogue therapy for treatment of achondroplasia. Vosoritide acts on growth plate chondrocytes through the Natriuretic Peptide Receptor-B to stimulate increased endochondral bone growth, leading to increased growth velocity in treated subjects. In Phase II clinical studies, subject blood and urine samples were analyzed to monitor putative bone growth biomarkers including cross-linked C-terminal telopeptides of collagen II (CTxII...

Background: Short stature is clearly not a disease, but is commonly perceived to be associated with social and psychological disadvantage.Objective and hypotheses: To evaluate the psychological changes in children with short stature after growth hormone therapy.Method: One hundred and thirty children aged 6–14 years old were diagnosed as short stature (ISS and GHD). And they were divided into intervention group (55 children) a...

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...

Gynecologic anomalies, including uterine agenesis and ovarian dysgenesis, are reported in clinical practice of reproductive endocrinology. They are some of several differential diagnoses in adolescent females with primary amenorrhea and delayed puberty. Primary ovarian insufficiency can be determined by conducting sex hormone tests to evaluate the hypothalamic-pituitary-ovarian axis, but accurate confirmation of Mullerian agenesis can be extremely challenging by image modaliti...

Background: Adolescent growth spurt is the fast and intense increase in the rate of growth in height and weight that occurs during the adolescent stage of the human life cycle.Objective and hypotheses: To investigate the changes of hormone levels and body composition in pubertal children with growth retardation.Method: A non-randomised clinical controlled study was conducted in 208 cases (males 122, 10–14 years and females 86,...

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...