ESPE Abstracts

Objectives: Non-high-density lipoprotein (HDL) cholesterol is an alternative method to assess dyslipidemia and is not required fasting. We aimed to assess the validity of non-HDL cholesterol for detecting dyslipidemia among Korean adolescents.Subjects and Methods: Data for 6,989 adolescents aged 10 to 19 years (3,684 boys and 3,305 girls), were obtained from the Korean National Health and Nutrition Examination Surveys du...

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...

Turner syndrome is associated with insulin resistance, increased incidence of type II diabetes, and hypertension, all of which are cardiovascular risk factors. The purpose of this study was to evaluate the lipid profile of Chinese girls with untreated Turner syndrome, (aged 2 to 15 years; 50.9% 45,XO) and age-matched, normal girls. A total of 108 girls with Turner syndrome and 99 normal girls had lipid profile measurements, including cholesterol, triglycerides,high-density lip...

Objectives: To summarize the diagnosis and treatment course of hyperkalemia in twins, review the diagnosis approach of hyperkalemia in neonate and guide clinical practice.Methods: The clinical manifestation, laboratory examination, the course of diagnosis and treatment of the two cases were summarized.Results: A pair of twin girls, 38 days after birth, came to our department because of ‘Hyperkalemia more than one month’. ...

Objectives: To investigate the effect of Letrozole on the reproductive function and linear growth in adolescent boys.Methods: 43 early and middle pubertal boy with seriously damaged predicted adult height(PAH), treated with letrozole 1.5mg/m2/d Po(≯2.5mg/d) with a duration of 3-18 months were enrolled as Short-, medium- and long- treatment group with letrozole of 3-6, 6-12, 12-18 months, respectively. 48 healthy pubertal boys were enrolled as control...

Aldosterone synthase deficiency (ASD) is a rare autosomal recessive disease caused by inactivating mutation in the CYP11B2 gene, usually presenting with severe salt-wasting in infancy or stress-induced hyperkalaemia and postural hypotension in adulthood. ASD is unable to be detected by Neonatal screening of 17-hydroxyprogesterone, hence patients would not be diagnosed until they suffer from salt-wasting crisis. Due to this potentially life-threatening risk, early detection and...

Introduction: Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous syndrome characterized by unilateral lipomatosis and ipsilateral neurologic/ophthalmic malformation. Jaffe–Campanacci syndrome (JCS) is characterized by the association of café-au-lait spots, axillary freckles, multiple non-ossifying fibromas of the long bones and jaw. Both of ECCL and JCS was associated neurofibromatatosis type 1. We had a case of GH deficiency with combined ECCL and ...