ESPE Abstracts

Background: The pathogenesis of central precocious puberty (CPP) is complex, and exposure to environmental endocrine disruptors leading to CPP deserves attention. Poly- and perfluoroalkyl substances (PFASs) can interfere with sexual development, but there are few reports of their effects on sexual hormones and other hormones in CPP girls.Objective: To explore the levels of PFASs in CPP girls and healthy control girls age...

Background: Androgen insensitivity syndrome (AIS) is a common 46XY disorders of sex development (DSD), which is mainly caused by mutations in the androgen receptor (AR) gene. The clinical manifestations vary among patients, depending on residual androgen receptor activity.Methods: Five patients with different degrees of masculinization of external genitalia were selected as the research objects. As well as the detailed m...

This study aim ed to screen pediatric patients with clinically diagnosed pseudohypoparathyroidism (PHP), pseudopseudohypoparathyroidism (PPHP), and progressive osseous heteroplasia (POH) for genetic and epigenetic defects in GNAS and to assess their clinical features. A total 87 patients from 8 medical centers in China were included in this study, and 70 patients underwent analysis of GNAS by next-generation sequencing and methylation-specific multiple ligati...

Objective: Type E brachydactyly (BDE) is characterized by shortening of the metacarpal/metatarsal bones, with the phalanges also potentially affected. This study analyzes the clinical features and genotype-phenotype correlations of BDE in children.Methods: This study selected 135 patients with BDE who visited the Children's Hospital affiliated with Soochow University from June 2021 to December 2023 and completed a b...

Objective: Hypophosphatasia (HPP) is a monogenic metabolic bone disease characterized by skeletal and dental mineralization disorders and paradoxically low serum alkaline phosphatase (ALP) activity. The pathogenic gene for HPP is ALPL, which encodes tissue-nonspecific alkaline phosphatase (TNSALP). The purpose of this study is to determine the prevalence of HPP among the population in Suzhou and explore the genotypic spectrum of ALPL gene in ...

Introduction: Hypopituitarism has been reported to be associated with lower quality of life (QoL), marital rates, and sex-life satisfaction in adulthood in patients with GH deficiency. Very few studies have examined this in those with childhood-onset multiple pituitary hormone deficiency (COMPHD).Aims: To evaluate QoL in adults with COMPHD.Subjects and methods: All COMPHD patients aged (≥18 years were identified from medical ...

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...

Background: The current standard method to diagnose central precocious puberty(CPP) is gonadotropin releasing hormone stimulation test (GnRHST). But, it is inconvenient for children because of time-consuming and multiple samples. This study aimed to present utility of morning basal luteinizing hormone (LH) for the screening of central precocious puberty with emphasis on the influence of diurnal variation.Methods: This study is a retrospective review of 1...

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...