ESPE Abstracts

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: The achievement and maintenance of normoglycemia is one of the most important goals to prevent both short and long-term complications in type 1 diabetes mellitus (T1DM). As carbohydrate acts as the primary macronutrient affecting postprandial glycemic response, carbohydrate counting is crucial in adjusting prandial insulin doses to preserve postprandial blood glucose within normal limits. The purpose of this study is to examine the effect for carbo...

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...

Introduction: The Kiss1/Kisspeptin/Kiss1r system is essential for puberty onset and reproductive system development, especially in the hypothalamus. Nevertheless, Kiss1 is expressed in other organs. Additionally, serum kisspeptin has been associated with puberty. However, studies on the developmental changes in serum kisspeptin levels and its main source are limited. Therefore, the aim of this study was to evaluate the developmental ...

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....

Background: Management options are limited for the treatment of Graves' disease (GD) in children and adolescents. Antithyroid drugs (ATDs) remain the first-line therapy in patients with GD, despite a high relapse rate. We investigated the clinical characteristics, treatment, the outcome, and predictors of a remission of children and adolescents with GD at a single center.Methods: We retrospectively reviewed the medic...

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...