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...

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...

hrp0084p2-542 | Puberty | ESPE2015

Gonadotropin-Releasing Hormone Agonist Analog (Tripotorelin) Stimulation Test in Evaluation of Pituitary -Testicular Function in Boys

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

Background: The hypothalamus-pituitary-gonad (HPG) axis is crutial to the development and function of reproductive system. Gonadotropin-releasing hormone (GnRH) has been the standard test for the assessment of activation of HPG axis. Because GnRH is no longer available, GnRH analogues (GnRHa) are now used. In previous studies, GnRHa stimulation tests have been the mainstay for establishing the diagnosis of precocious puberty in female and distinguishing constitutional delay of...

hrp0084p3-613 | Adrenals | ESPE2015

Near-Final Height Outcome of Congenital Adrenal Hyperplasia due to Classic 21-Hydroxylase Deficiency in 55 Chinese Patients

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

Background: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is reported inadequate growth and impairment of the final height (FH).Objective: We present the results of near FH in 55 patients with classic 21-OHD followed up for approximately 11.6 years(the longest 25.3 years)in a single institution, and the variables related to NFH.Method: Patients with classic 21-OHD followed up at our clinic, who had ...

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...

hrp0084p3-994 | Gonads | ESPE2015

Homozygous CYP17A1 Mutation Identified in a Chinese Family with 46, XX and 46, XY 17α-Hydroxylase Deficiency

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

Background: Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency is a rare autosomal recessive disorder, characterized by sexual infantilism, amenorrhoea, hypertension and hypokalemia,which is caused by CYP17A1 gene mutations.Objective and hypotheses: To provide a descriptive analysis of 17α-hydroxylase deficiency in two female siblings with different karyotype of 46, XX and 46, XY.Method: The clinical feature...

hrp0084p3-1236 | Turner | ESPE2015

A Comparison of Efficacies between rhGH and rhGH Combined with Stanozolol Therapies in Growth of the Girls with Turner Syndrome

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

Objective and hypotheses: To compare the different efficacies between recombinant human GH (rhGH) alone and rhGH combined with low does stanozolol on improving growth of the girls with Turner syndrome (TS).Method: TS girls were divided into two groups. Group 1 (15 cases) received rhGH therapy, aged (13.09±2.70) years, bone age (11.00±1.01) years, height was (131.46±8.22) cm. Group 2 (22 cases) received low does stanozolol combined with rhG...

hrp0092p1-183 | Diabetes and Insulin (1) | ESPE2019

Study on the Mechanism of Metformin in Improving PGRN-Induced Insulin Resistance of 3T3-L1 Cell

Huang Siqi , Liang Liyang , Meng Zhe , Zhang Lina , Hou Lele , Liu Zulin , Chen Hongshan

To investigate the effect of metformin on the PERK-eIF2a pathway in PGRN - induced insulin - resistant cell model. METHODS: The 3T3-L1 Insulin-resistance cell model was constructed by dexamethasone and PGRN. Metformin was used to act on the cell model to screen out the optimal concentration group for reducing PGRN,The experiment was divided into the normal control group, dexamethasone group, and PGRN group. 4-PBA and metformin were used to act respectively.Western Blot was use...

hrp0092p3-241 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

46XY, DSD with Hemolytic Uremic Syndrome as the Primary Manifestation——Denys–Drash Syndrome Caused by WT1 Gene Mutation

zhang jun , guo song , chen qiuli , ma huamei , li yanhong , chen hongshan , du minlian , cheng cheng , ye minyi

Objective: To summarize the diagnosis and treatment of a rare 46XY DSD cause: Denys-Drash syndrome.Methods: To summarize the clinical manifestations, laboratory tests, diagnosis and treatment of a rare 46XY DSD cause presenting with hemolytic uremic syndrome: Denys-Drash syndrome (WT1 mutation).Results: Female, 2 years and 4 months, were admitted to the hospital at 2018-11-7 becaus...