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...

hrp0095p2-225 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Clinical Characters and Prognosis of a Case With Bifocal Germ Cell Tumors in Children

Shi Xianjun , Li Yanhong , Ma Huamei , Du Minlian

Background:In children and adolescents suffered form primary intracranial germ cell tumors, bifocal GCTs are rare and were reported a bad prognosis. In this study, we report a case and summarize the clinical characteristics and prognosis.Methods: A boy suffered form bifocal GCTs (Basal ganglia and pineal region) was diagnosed in our hospital and accepted chemotherapy+radiotherapy, and was followed up.<p class="abstex...

hrp0084p3-590 | Adrenals | ESPE2015

Characterisation of Ovarian Adrenal Rest Tumours in Children and Adolescent Females with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Su Zhe , Li Yanhong , Ma Huamei , Du Minlian

Background: Ovarian adrenal rest tumours (OARTs) are rare in contrast to testicular adrenal rest tumours (TARTs).Objective and hypotheses: To summarise the characterization of OART in children and adolescent females with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD).Method: We have diagnosed four cases of CAH 21-OHD with OART in the recent 5 years and summarised the characterisations.<p class="a...

hrp0094fc3.2 | Growth Disorders | ESPE2021

Identification of a FBN1 variant in a pedigree affected with Severe Short Stature with a Mild Form of Geleophysic Dysplasia Type 2

MA Huamei , Zhang Jun , Guo Song , Chen Qiuli , LI Yanhong ,

Objective: To explore the genetic basis for a Chinese three-generations pedigree affected with Severe Short Stature with a mild form of Geleophysic Dysplasia Type 2(GD2)Methods: We collected 11 related family members from a Chinese 3-generation pedigree with severe short stature with a mild form of Geleophysic Dysplasia Type 2 GD2. Clinical data of the 11 family members was collected.With genomic DNA...

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...

hrp0089p3-p183 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Diagnosis and Treatment of Persistent Hyperkalemia in Newborn Twins – Rare Case Report of Gordon Syndrome

Zhang Jun , Ma Huamei , Li Yanhong , Guo Song , Du Minlian , Yu Muxue , Li Xiaoyu

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’. ...

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...

hrp0084p3-1236 | 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...

hrp0092p2-114 | Fat, Metabolism and Obesity | ESPE2019

Five Years' Follow-up of the Effect of Sex Steroid Hormone on Lipid and Glucose Metabolism in Girls with Turner Syndrome

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

Objective: We sought to evaluate the role of long-term HRT on the lipid profile and glucose metabolism in girls with TS.Design: A pre-test/post-test observational study.Seting: Pediatric TS clinic in The First Affiated Hospital, Sun Yat-sen University.Patients: 56 girls with TS had accurate maintenance HRT data....

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...