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-p063 | Diabetes & Insulin P2 | ESPE2018

Detection of the Pathogenic Genes in the Diagnosis and Treatment of Hyperglycemia Infants and Children

Zhao Zhuhui , Cheng Ruoqian , Xi Li , Li Xiaojing , Zhang Miaoying , Pei Zhou , Sun Chengjun

Objectives: To explore the clinical value of common pathogenic gene detection in the diagnosis and treatment in hyperglycemia infants and children.Subjects and Methods: Subjects were in-patients with hyperglycemia, age of onset before 1 year-old, or insulin antibody negative and with family history of diabetes. Gene sequencing for ABCC8, KCNJ11, INS and GCK were performed and potential mutations were analyzed. The pati...

hrp0089p3-p110 | Diabetes & Insulin P3 | ESPE2018

Diabetes Mellitus, Autoimmune Hemolytic Anemia, Hepatosplenomegaly and Lymphadenopathy: A Rare Association in Chinese Children

Zhang Miaoying , Li Xiaojing , Xi Li , Zhao Zhuhui , Cheng Ruoqian , Wu Bingbing , Luo Feihong

Objectives: To report a case of concomitance of diabetes mellitus, autoimmune hemolytic anemia, hepatosplenomegaly and lymphadenopathy in a 7-year girl.Methods: Retrospective review of medical records of a patient with multiple autoimmune diseases followed at the Departments of Endocrinology and Metabolism, Children’s Hospital of Fudan University. This rare case was undergoing whole exome sequencing.Results: This girl 2 year w...

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’. ...

hrp0089p3-p360 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

46,XY Gonadal Dysgenesis Accompanied by Neuropathy Caused by a DHH Mutation

Su Zhe , Pan Lili , Wang Li , Chen Weiyan , Song Jianming , Li Shoulin

Objectives: To summarize the clinical manifestations of a patient of 46,XY partial gonadal dysgenesis (PGD) accompanied by neuropathy. This is the first reported case of DHH mutation from China.Methods: We retrospectively reviewed the case and summarized the clinical history, physical examinations, laboratory and genetics tests, electromyography, ultrasound, surgical exploration and histopathology results.Results: The 14.3-year-old...

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...

hrp0082p1-d3-224 | Reproduction (2) | ESPE2014

Test on Kisspeptin Levels in Girls with Idiopathic Central Precocious Puberty and its Significance

Yang Yu , Xiong Xiang-Yu , Yang Li , Xie Li-Ling , Huang Hui

Objective: This paper is aimed to explore the significance of plasma kisspeptin level in diagnosis and therapeutic evaluation through the detection of kisspeption level of girls diagnosed with idiopathic central precocious puberty (ICPP) before treatment and after 6-months of treatment and girls with simple premature thelarche (PT).Methods: A total of 70 girls including 24 girls diagnosed with ICPP, 21 girls with PT and 25 normal girls were enrolled. ELI...

hrp0082p2-d1-568 | Sex Development | ESPE2014

46XY, DSD due to 5α-Reductase Type 2 Deficiency in 19 Chinese Patients

Li Yan-Hong , Du Min-Lian , Ma Hua-Mei , Chen Hong-Shan , Chen Qiu-Li

Background: Patients with 46,XY, DSD are characterized by ambiguous or female external genitalia, caused by incomplete intrauterine masculinization. 5α-reductase type 2 deficiency due to SRD5A2 gene mutations result in inadequate conversion from testosterone to dihydrotestosterone (DHT), and is responsible for incomplete virilization in male patients. Up to date, more than 50 mutations have been reported, however, clinical features are variable and heterogeneous.<p cl...

hrp0082p3-d2-715 | Diabetes (1) | ESPE2014

Insulin Pump Therapy in One Case of 6q24 Transient Neonatal Diabetes for 3 Years

Wangkai Liu , Xiaoyu Li , Yihua Su , Siqi Zhuang , Yijuan Li , Huamei Ma , Minlian Du , Weiqi Chen

Background: Management of transient neonatal diabetes mellitus is complex. Conventional insulin therapy may be increase additional medical problems. From the case is presented, We suggested s.c. insulin pump therapy of neonatal diabetes is a safe and effective approach to management.Objective and hypotheses: To evaluate the therapeutic effect of continuous s.c. insulin infusion with insulin pump in a case with transient neonatal diabetes mellitus (TNDM)....

hrp0084p3-998 | Gonads | ESPE2015

The Changes of Body Fat and Metabolic Parameters During GnRHa Treatment in Central Precocious Puberty or Early and Fast Puberty Girls

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

Background: Oestrogen has positive effect to glucose and lipid metabolism. On the contrary, leptin has negative effect to metabolism. During GnRHa treatment, the secretion of oestrogen was suppressed and its effect will fade away.Objective and hypotheses: To observe the changes of body fat and metabolic parameters of central precocious puberty (CPP) or early and fast puberty (EFP) girls who treated with Gonadotropin-releasing hormone analogues (GnRHa).</...