ESPE Abstracts

Background: It’s well known that GnRH analogue (GnRHa) could not improve the final height of mid/late pubertal girls with central precocious puberty (CPP) or early and fast puberty (EFP) for their low growth potential.Objectives: To evaluate the effect of combined treatment with GnRHa and GH on the linear growth in mid/late pubertal girls with CPP/EFP at great bone ages. To investigate the relation between C-type natriuretic peptide (CNP) and GH&#14...

Background: Sea-blue histiocytosis is a morphological finding that can be associated both with acquired conditions of increased cellular turnover and inborn errors of lipid metabolism.Objective and hypotheses: To present a Chinese boy of hypertension and sea-blue histiocytosis secondary to Niemann–Pick disease type B.Methods: Diagnosis was confirmed by the bone marrow aspiration and the specific enzyme assay of leukocytes (def...

This study represents the first documentation of the coexistence of complete androgen insensitivity syndrome (CAIS) with Müllerian duct remnants (MDRs) in mainland China. Additionally, we provide a comprehensive review of the existing literature concerning CAIS with MDRs resulting from androgen receptor (AR) gene mutations. This study broadens the clinical spectrum of CAIS and offer novel insights for further exploration into Müllerian duct regression. A 14-...

Background: Hepatoblastoma is the most common malignant pediatric hepatic tumor virtually confined to infants and young children. Accompanied by raised levels of alpha fetoprotein (AFP)，rarely, the beta human chorionic gonadotropin (β hCG) levels may also be elevated, which can cause male peripheral precocious puberty (PPP).Objective: To report a case of HB presented with PPP with elevated serum AFP, β h...

Background: In children with extracranial germ cell tumors (GCTs), brain metastases are rare and are classified as “poor prognosis”. The longest interval to brain metastases was 36 months after diagnosis in children, however, it is still less understood.Methods: We report a boy who had suprasella tumor recurrence 4 years after the first diagnosis of extracranial GCTs (thymus).Re...

Introduction: Cushing's syndrome(CS) is rare in the pediatric population, and the cause vary with age. Primary pigmented nodular adrenocortical disease (PPNAD) is one of the causes of CS, though it is a rare disorder. It has been proposed that in children with CS, PPNAD should be suspected. Here we report a young boy with CS due to PPNAD associated with a somatic mutation of the PRKACA.Case Presentation: The child w...

Background: Patients with 46,XY, DSD are characterized by ambiguous or female external genitalia, caused by incomplete intrauterine masculinization. 5α-reductase type 2 deficiency due to SRD5A2 gene mutations result in inadequate conversion from testosterone to dihydrotestosterone (DHT), and is responsible for incomplete virilization in male patients. Up to date, more than 50 mutations have been reported, however, clinical features are variable and heterogeneous.<p cl...

Background: It is not yet clear whether the adult height (AH) is affected by the onset of puberty at 6 or 7 years old in girl in China.Objective and hypotheses: To evaluate AH in girl with the onset of puberty at 6 or 7 years old.Method: The standard of AH in girl was considered that their bone ages were equal to (or greater than) 15 years old or they were at least 3 years post-menarche. Eighty-two girls with the onset of puberty a...

Background: Cystic fibrosis (CF) is the most common genetic sever disease in Caucasian populations. It is crucial to identify patients with CF who are at increased risk of acquiring CF-related diabetes (CFRD).Objective: To identify potential demographic, clinical, and laboratory predictors of CFRD in patients with CF.Method: The study group included patients more than 10 years of age with CF and pancreatic insufficiency who attende...

Background: Male genital abnormalities may be associated with environmental endocrine disruptors.Objective and hypotheses: To observe the hypothalamic kiss-1 gene and the testis androgen acceptor (AR) gene expression level changes and the level of serum luteinizing hormone (LH), follicle stimulating hormone (FSH); testosterone (T) and Inhibin B (INH B) in neonatal rats which exposure to different doses of bisphenol-A (BPA). In order to explore the effect...