ESPE Abstracts

Background: Abnormalities in glucose homeostasis are fairly common complications in thalassemia major (TM) patients. Previous studies had shown associations between some endocrinopathies and iron overload of the myocardium, liver as assessed by MRI techniques. This study aimed at determining the relationship among cardiac T2*, liver T2* and abnormal glucose in TM patients.Objective and hypotheses: A total of 34 (27 male) transfusion-dependent TM patients...

Objective: Excessive exposure to glucocorticoids (GCs) during gestation period not only causes fetal growth retardation but also increases the risk of adult metabolic diseases. 11 Beta-hydroxysteroid dehydrogenase (11β-HSD2) is a kind of glucocorticoid metabolic enzymes, which plays a role to the placental GCs barrier during gestation period. The aim of this study is to investigate the effect and mechanism of sonic hedgehog (Shh) signalling on regulation the expression of...

Background: Studies about the genetics of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency congenital adrenal hyperplasia (CAH) in Chinese children are less.Objective and hypotheses: Study the genotypes of Chinese probands with salt-wasting form of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency (CAH) and performed pedigree-based linkage analysis.Method: We have performed genetic-testing (Method...

Dysosteosclerosis (DOS) is a rare form of dense bone disease and, short stature, recurrent fractures, optic atrophy, cranial nerve palsy, developmental delay, flattened fingernails, skin related complications, and failure of tooth eruption are the characteristic features of the disease (MIM %224300). Irregular osteosclerosis, flattened diffusely dense vertebral bodies, sclerotic skull, radiolucent sub-metaphyseal portions of the long tubular bones with sclerotic diaphysis are ...

Objective: To assess the efficacy and influential factors of GnRHa treatment for Chinese CPP/EFP boys.Methods: From April, 1994 to June, 2020, 94 boys diagnosed with CPP or EFP who had reached the final adult height were retrospectively included. Among these patients, 41 patients received no treatment, 43 patients received GnRHa treatment alone and 10 patients received GnRHa + GH treatment. The final adult height and the...

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...

Objective: To analyze the clinical characteristics and treatment of non-germinomatous germ cell tumor (NGGCT) in one girl with the initial onset of homosexual peripheral precocious puberty (PPP) and central diabetes insipidus (CDI) and eventually progressed into central precocious puberty (CPP).Methods: The clinical data of a girl who was diagnosed as NGGCT with the onset of PPP and CDI and eventually progressed into CPP...

Objective: We sought to evaluate the role of long-term HRT on the lipid profile and glucose metabolism in girls with TS.Design: A pre-test/post-test observational study.Seting: Pediatric TS clinic in The First Affiated Hospital, Sun Yat-sen University.Patients: 56 girls with TS had accurate maintenance HRT data....

Objective: To understand the clinical characteristics, etiological distribution and related metabolic problems of children with premature pubarche.Methods: The clinical data of 55 cases of premature pubarche were summarized. All the children were tested by ACTH stimulation test and GnRHa stimulation test, of which 17 cases were detected by CYP21A2 gene,and 16 cases of Premature Adrenarche (PA) and 14 cases of Isolated Pr...

An 11-year-old boy came to our hospital on 2019-1-23 because of "discovered hypercalcemia for 4 months."Past History: The child has a history of lupus nephritis for 2 years, and currently oral prednisone 12.5mg qd, mycophenolic acid 0.25g q12h, tacrolimus 1mg q12h for treatment. The lupus activity index was reviewed once a month due to lupus nephritis. At present, SLEDAI (lupus activity score) is 2 points, and the condition is we...