hrp0084p2-245 | Diabetes | ESPE2015

Association of Ghrelin Levels and Insulin Resistance in Small for Gestational Age Rats

Liu Wangkai , Shen Zhenyu , Du Minlian , Zhuang Siqi , Ma Huamei

Background: Because ghrelin is closely linked to insulin resistance and type 2 diabetes mellitus in adults, ghrelin might also participate in the development and progression of pathological changes in insulin resistance in SGA infants.Objective and hypotheses: This study aimed to determine insulin sensitivity index (ISI), variation in ghrelin levels, and their relationship in small for gestational age (SGA) rats.Method: The SGA ani...

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...

hrp0094p2-394 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

SRY negative 46XX male syndrome: case report

Zhang Jun , Ma Huamei , Chen Qiuli , Guo Song ,

Objective: To study the clinical characteristics of 46XX male syndrome case with negative SRYMethods: To summarize the characteristics of one case of SRY negative 46XX male syndromeResults: a 12-year-old boy came to our clinic for "breast development for one year". At the age of 1 year old, karyotype was done with the result of 46XX for hypospadias (penile-scrotal type). At...

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...

hrp0094p2-225 | Fat, metabolism and obesity | ESPE2021

A case report of sitosterolemia and the early differential diagnosis

Zhang Jun , Ma Huamei , Chen Qiuli , Guo Song ,

Objective: To explore the clinical manifestations and early identification of sitosterolemia.Methods: To summarize the clinical characteristics of the case and review literatures of sitosterolemia.Result: The child was an 11-year-old boy. The main complaint was that subcutaneous yellow nodules were found more than 1 years with blood cholesterol increased for 4 months. Two months ago, the patient ca...

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...

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:...