hrp0094p2-77 | Bone, growth plate and mineral metabolism | ESPE2021

Effect of tamoxifen on linear growth of precocious female SD rats

MA Huamei , LI Yanhong , DU Minlian , CHEN Qiuli , CHEN Hongshan ,

Background: Tamoxifen is a selective estrogen receptor modulator,administrated in girls with precocious puberty such as McCune-Albright syndrome.Objective: To explore the effect of tamoxifen on the linear growth of precocious pubertal female rats.Method: At 16-22 day of age, 16 precocious pubertal female rats(induced by 300 μg danazol s.c. at 5-day old), were randomized...

hrp0092p1-61 | Fat, Metabolism and Obesity | ESPE2019

Association Among PGRN, HMGB1, and Obesity Related Markers in Young Rat Model of High Fat Diet-Induced Obesity

Chen Hongshan , Li Dan , Zhang Yuanyuan , Huang Siqi , He Xiaohua

Objective: We aim to investigate the association among progranulin (PGRN), high-mobility group box 1 (HMGB1), and obesity related markers in young rat model of high fat diet-induced obesity.Materials and Methods: 20 Male Sprague-Dawley (SD) rats at the age of 21 days were divided into two groups randomly. The rats were fed with normal diet (NC group) or high-fat diet (OB group). The NC group and OB group were sacrificed ...

hrp0094p2-319 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Rare case report: A Chinese boy with MDPL syndrome cause by POLD1 gene mutation

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

Background: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) syndrome is a genetic disorder which was first recognized in 2010. MDPL syndrome is comprised of mandibular hypoplasia, deafness, progeroid features, lipodystrophy, hypogonadism and metabolic disorders. It is caused by an autosomal dominant mutation in the polymerase delta 1 (POLD1) gene, with <30 genetically confirmed cases to date.Cas...

hrp0092p3-6 | Adrenals and HPA Axis | ESPE2019

Clinical Characteristics and Etiological Diagnosis of Premature Pubarche Among 55 Children

MA Huamei , LIN Juan , ZHANG Jun , LI Yanhong , CHEN Qiuli , CHEN Hongshan , GUO Song , DU Minlian

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...

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:...

hrp0092p3-222 | 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...

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...

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 ...

hrp0084p3-994 | 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...