hrp0092p3-44 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Rare Case Report: Asymptomatic Hypercalcemia in Children with Lupus Nephritis Complicated with Parathyroid Adenoma

zhang jun , chen qiuli , guo song , ma huamei , li yanhong , chen hongshan , pu ronghui , du minlian

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...

hrp0092p3-151 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Long-Term Follow-Up Study for a Boy with Floating–Harbor Syndrome Due to a de novo Novel Heterozygous SRCAP Mutation

Ma Huamei , Zhang Jun , Guo Song , Li Yanhong , Chen Qiuli , Chen Hongshan , Du Minlian

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:...

hrp0092p3-193 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

The Pubertal Development Mode of Chinese Turner Syndrome Girls with Hormone Replacement Therapy

Guo Song , Zhang Jun , Chen Qiu , Li Yanhong , Ma Huamei , Chen Hongshan , Du Minlian

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...

hrp0092p3-222 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Research on Detecting the Dose of Estrogen in the Hormone Replacement Treatment in Girls with TS – A Retrospective Study in Single Clinical Center

Guo Song , Chen Qiuli , Li Yanhong , Zhang Jun , Chen Hongshan , Ma Huamei , Du Minlian

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...

hrp0089p2-p034 | Adrenals and HPA Axis P2 | ESPE2018

Etiology of Primary Adrenal Insufficiency in Children: a 29-year Single Center Experience

Ma Huamei , Zhang Jun , Guo Song , Li Yanhong , Chen Hongshan , Chen Qiu , Du Minlian , Li Shaofu

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...

hrp0089p2-p136 | Fat, Metabolism and Obesity P2 | ESPE2018

Dyslipidemia and Its Related Factors in Chinese Children and Adolescents with Turner Syndrome

Huang Siqi , Chen Hongshan , Du Minlian , Li Yanhong , Ma Huamei , Chen Qiuli , Zhang Jun , Guo Song

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...

hrp0089p2-p317 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

The Effect of Letrozole on the Reproductive Function and Linear Growth in the Early and Mid Puberty Boys

Ma Huamei , Lin Juan , Zhang Jun , Li Yanhong , Chen Qiuli , Du Minlian

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...

hrp0086p2-p79 | Adrenal P2 | ESPE2016

Three Chinese Patients from Two Kindreds with Aldosterone Synthase Deficiency: Clinical Characteristic with Mutation Analysis Report

Li Shaofu , Ma Huamei , Zhang Jun , Du Minlian , Li Yanhong , Chen Qiuli , Chen Hongshan , Guo Song

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...

hrp0086p1-p831 | Syndromes: Mechanisms and Management P1 | ESPE2016

Serum Levels of IL-6, TNF-a, Omentin-1 are Increased in Girls with Turner Syndrome

Chen Hongshan , Xiong Hui , Du Minlian , Li Yanhong , Ma Huamei , Chen Quili , Zhang Jun , Guo Song

Objective: To assess the serum levels of IL-6, TNF-a and Omentin-1 in girls with Turner Syndrome (TS) and to analyze their association with FPG, FINS, TC, TG, HDL-c, LDL-c, and BMISDS.Methods: In total of 33 TS girls aged (12.8±3.9) yr and 33 age-matched normal girls aged (12.6±3.7) yr were recruited in the study. Height (Ht) and Weight (Wt) were measured; FPG, FINS, TC, TG, HDL-c, LDL-c, IGF-1 and E2 were also measured; BMI and BMISDS were cal...

hrp0084p3-616 | Adrenals | ESPE2015

Nephrotic Syndrome Developing in a Girl with Classic 21-Hydroxylase Deficiency – First Report

Ma Huamei , Lin Juan , Zhang Jun , Li Yanhong , Chen Qiuli , Chen Hongshan , Du Minlian

Background: Nephrotic syndrome is the most common cause of kidney disease in children, but its pathogenesis remains unclear. Nephrotic syndrome in patients with congenital adrenal hyperplasia has not been reported.Case presentation: A 38-month-old female child was admitted with eyelid edema. She was the first child (birth weight, 3.0 kg, full term) of non-consanguineous parents of Chinese Han ethnicit. She had been diagnosed with congenital adrenal hyper...