ESPE Abstracts

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...

Objective: To investigate the early predictors of serum IGF-1, DHEAS, AMH and BMP-6 in rapidly progressive puberty girls.Methods: 750 cases of central precocious puberty(CPP), early puberty(EP) and rapidly progressive puberty(RPP) in Children's hospital of Soochow university were recruited from August 2017 to December 2018. After follow-up six months to one year, 138 girls were divided into CPP(n=32), EP...

Background: Now in many causes of precocious puberty, thinking of environmental endocrine disruptors (EDCs) is one of the causes. Bisphenol A (BPA), as a kind of environmental endocrine disruptors, can interfere with normal endocrine activities. But up to now, there is few reports of the influence of BPA in premature thelarche (PT) of below 2 years girls.Objective and hypotheses: To investigate the association between BPA and premature thelarche in 6 mon...

Objective: To screen and identify serum differentially expressed proteins in girls with rapidly progressing central precocious puberty and healthy girls by proteomics. Methods: 15 idiopathic central precocious puberty girls and 15 healthy children were admitted to the Children’s Hospital of Suzhou University from August 2017 to October 2018.After mixing in the group, the high-abundance protein was removed and quantified ...

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: 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...

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 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...