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...

Objectives: To report a case of concomitance of diabetes mellitus, severe acanthosis nigricans, short stature in a 6-year boy.Methods: Retrospective review of medical records of a patient with diabetes, acanthosis nigricans and short stature followed at the Departments of Endocrinology and Metabolism, Children's Hospital of Fudan University. This rare case was undergoing whole exome sequencing....

Background: Prader-Willi syndrome is a genetic disorder characterized by obesity, short statue, hypotonia and hypogonadism. Delayed or incomplete puberty are usually found in PWS, whereas central precocious puberty is very rare.Objective: This study aimed to report the case of a boy with PWS who was diagnosed with precocious puberty during growth hormone replacement therapy.Methods...

Objectives: To explore the clinical value of common pathogenic gene detection in the diagnosis and treatment in hyperglycemia infants and children.Subjects and Methods: Subjects were in-patients with hyperglycemia, age of onset before 1 year-old, or insulin antibody negative and with family history of diabetes. Gene sequencing for ABCC8, KCNJ11, INS and GCK were performed and potential mutations were analyzed. The pati...

Objectives: To report a case of concomitance of diabetes mellitus, autoimmune hemolytic anemia, hepatosplenomegaly and lymphadenopathy in a 7-year girl.Methods: Retrospective review of medical records of a patient with multiple autoimmune diseases followed at the Departments of Endocrinology and Metabolism, Children’s Hospital of Fudan University. This rare case was undergoing whole exome sequencing.Results: This girl 2 year w...

Objectives: To summarize the clinical manifestations of a patient of 46,XY partial gonadal dysgenesis (PGD) accompanied by neuropathy. This is the first reported case of DHH mutation from China.Methods: We retrospectively reviewed the case and summarized the clinical history, physical examinations, laboratory and genetics tests, electromyography, ultrasound, surgical exploration and histopathology results.Results: The 14.3-year-old...

Objective: This paper is aimed to explore the significance of plasma kisspeptin level in diagnosis and therapeutic evaluation through the detection of kisspeption level of girls diagnosed with idiopathic central precocious puberty (ICPP) before treatment and after 6-months of treatment and girls with simple premature thelarche (PT).Methods: A total of 70 girls including 24 girls diagnosed with ICPP, 21 girls with PT and 25 normal girls were enrolled. ELI...

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: Management of transient neonatal diabetes mellitus is complex. Conventional insulin therapy may be increase additional medical problems. From the case is presented, We suggested s.c. insulin pump therapy of neonatal diabetes is a safe and effective approach to management.Objective and hypotheses: To evaluate the therapeutic effect of continuous s.c. insulin infusion with insulin pump in a case with transient neonatal diabetes mellitus (TNDM)....

Keywords: growth hormone, small for gestational age, genetic defects; Silver-Russell syndrome; growth hormone deficiencyObjectives: To evaluate the influencing factors of GH treatment in Chinese short stature children born SGA.Methods: This was a single-center, retrospective, cross-sectional survey in China. Of 101 patients were identified born SGA and 66 short stature children bor...