ESPE Abstracts

Background: Tamoxifen is a selective estrogen receptor modulator，administrated in girls with precocious puberty such as McCune-Albright syndrome.Objective: To explore the effect of tamoxifen on the linear growth of precocious pubertal female rats.Method: At 16-22 day of age, 16 precocious pubertal female rats(induced by 300 μg danazol s.c. at 5-day old), were randomized...

Objective: We aim to investigate the association among progranulin (PGRN), high-mobility group box 1 (HMGB1), and obesity related markers in young rat model of high fat diet-induced obesity.Materials and Methods: 20 Male Sprague-Dawley (SD) rats at the age of 21 days were divided into two groups randomly. The rats were fed with normal diet (NC group) or high-fat diet (OB group). The NC group and OB group were sacrificed ...

Background: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) syndrome is a genetic disorder which was first recognized in 2010. MDPL syndrome is comprised of mandibular hypoplasia, deafness, progeroid features, lipodystrophy, hypogonadism and metabolic disorders. It is caused by an autosomal dominant mutation in the polymerase delta 1 (POLD1) gene, with <30 genetically confirmed cases to date.Cas...

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...

Background: —Floating-Harbor syndrome(FHS) is a rare autosomal dominant genetic disorder associated with heterozygous mutations in SRCAP gene. The SRCAP protein activates the cAMP-response element binding protein-binding protein(CREBBP) gene that is involved in the regulation of cell growth and division.Objective: To report on long-term follow-up data of a boy with FHSMethods:...

Background: Detail knowledge of pubertal development mode in girls with Turner syndrome (TS) who underwent hormone replacement therapy (HRT) is benefit for the proposal of an optimal HRT. The study was to study the pubertal development mode of girls with TS who underwent HRT and to evaluate the optimal therapy for sex induction in girls with TS.Method: We present a retrospective, longitudinal study over the past two deca...

Objective: The study was to detect the proper regimen of estrogen in HRT in girls with TS.Method: We conducted a retrospective, longitudinal study with 76 girls with TS from The First Affiliated Hospital of Sun Yat-sen University over the past two decades.Results: The investigation time was 3.00 (2.00, 4.66) yrs. The uterine volume grew significantly till B4 stage when compared wit...

Objective: To investigate the etiology and clinical features of Chinese children with PAI.Method: 427 children (age 0–18 years) with PAI followed at our institution between September 1989 and March 2016 were studied.Results: 1. 228 males and 199 female (1.14:1) were included. Median age at diagnosis was 1.66 (10th–90th, 0.06~8.73 yrs.2. An identified diagnosis(clinical or genetic) was obtained in 93...