ESPE Abstracts

Background:In children and adolescents suffered form primary intracranial germ cell tumors, bifocal GCTs are rare and were reported a bad prognosis. In this study, we report a case and summarize the clinical characteristics and prognosis.Methods: A boy suffered form bifocal GCTs (Basal ganglia and pineal region) was diagnosed in our hospital and accepted chemotherapy+radiotherapy, and was followed up.<p class="abstex...

Background: Because ghrelin is closely linked to insulin resistance and type 2 diabetes mellitus in adults, ghrelin might also participate in the development and progression of pathological changes in insulin resistance in SGA infants.Objective and hypotheses: This study aimed to determine insulin sensitivity index (ISI), variation in ghrelin levels, and their relationship in small for gestational age (SGA) rats.Method: The SGA ani...

Background: Ovarian adrenal rest tumours (OARTs) are rare in contrast to testicular adrenal rest tumours (TARTs).Objective and hypotheses: To summarise the characterization of OART in children and adolescent females with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD).Method: We have diagnosed four cases of CAH 21-OHD with OART in the recent 5 years and summarised the characterisations.<p class="a...

Objective: To explore the genetic basis for a Chinese three-generations pedigree affected with Severe Short Stature with a mild form of Geleophysic Dysplasia Type 2（GD2）Methods: We collected 11 related family members from a Chinese 3-generation pedigree with severe short stature with a mild form of Geleophysic Dysplasia Type 2 GD2. Clinical data of the 11 family members was collected．With genomic DNA...

Objective: To study the clinical characteristics of 46XX male syndrome case with negative SRYMethods: To summarize the characteristics of one case of SRY negative 46XX male syndromeResults: a 12-year-old boy came to our clinic for "breast development for one year". At the age of 1 year old, karyotype was done with the result of 46XX for hypospadias (penile-scrotal type). At...

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: To explore the clinical manifestations and early identification of sitosterolemia.Methods: To summarize the clinical characteristics of the case and review literatures of sitosterolemia.Result: The child was an 11-year-old boy. The main complaint was that subcutaneous yellow nodules were found more than 1 years with blood cholesterol increased for 4 months. Two months ago, the patient ca...

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...

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....