hrp0095t15 | Section | ESPE2022

Secondary Oxidized DEHP Metabolites May Participate in the Progression from Isolated Premature Thelarche to Central Precocious Puberty or Early Puberty

Zheng Xiuxin , Su Zhe

Objective: Urine phthalic acid esters (PAEs) are one of estrogen-mimetic EDCs. Many studies have suggested that urinary phthalic acid esters (PAEs) are closely related to central precocious puberty (CPP) and isolated premature thelarche (IPT), but there is no study between urinary PAEs and the progression of IPT. This study is to explore the influence of PAEs on the progression of IPT to CPP or early puberty (EP).Methods:</strong...

hrp0094p2-257 | Growth hormone and IGFs | ESPE2021

Investigating the impact of the TuiTek patient support programme, designed to support caregivers of children prescribed recombinant human growth hormone treatment for growth hormone deficiency in Taiwan: A pilot study

Su Pen-Hua , Lin Yen-Fan , Jheeta Amrit , Su Su-Huei , Koledova Ekaterina , Graham Selina ,

Background: Poor adherence to recombinant human growth hormone (r-hGH) treatment presents a significant barrier to achieving optimal growth outcomes. It is important to identify and address the treatment adherence-related needs of children prescribed r-hGH, and develop new approaches to improve adherence. In this study, we aimed to measure the impact of the TuiTek patient support programme, a multi-component personalised service intervention, on caregivers&#14...

hrp0095p1-573 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Long-term follow-up of DHH variant-caused 46, XY disorders of sex development with multiple complications in a Chinese Child

Pan Lili , Li Zuoguang , Su Zhe

Background: The Hedgehog (HH) family plays an important role in the development, proliferation and homeostasis in various tissues and organs. Desert hedgehog(DHH), as a member of this family, is mainly involved in the normal development of testis and the formation of nerve sheath. DHH variation mainly causes 46, XY disorders of sex development (DSD) with or without minifascicular neuropathy(MN). Up to date, only 22 affected patients in detail have bee...

hrp0082p2-d3-476 | Hypoglycaemia | ESPE2014

Glucagon Secretion in Response to Hypoglycemia in Patients with Congenital Hyperinsulinism

Wang Yi , Gong Chunxiu , Su Chang

Background: Hypoglycemia triggers the secretion of counter-regulatory hormones such as cortisol, GH, and glucagon, all of which are protective mechanisms to restore euglycemia. It has been suggested that CHI patients have abnormal glucagon secretion during hypoglycemia, but the data is limited.Objective and hypotheses: To investigate the secretion of counter-regulatory hormones including glucagon during hypoglycemia. It’s supposed that these hormone...

hrp0095p2-301 | Late Breaking | ESPE2022

Analysis of Factors Affecting Bone Mineral Density in Children and Adolescents with systemic lupus erythematosus

Jin Park Su , Bae Ahn Moon , Suh Byung-Kyu

Background: Children and adolescents with chronic disease are at risk of developing bone fragility. In particular, low bone mineral density (BMD) is increasingly recognized in pediatric patients with glucocorticoid treated rheumatic disease. The purpose of this study was to evaluate the clinical characteristics of children and adolescents with systemic lupus erythematosus (SLE), and to analyze the factors associated with a lower BMD in these patients.<p cl...

hrp0086p2-p712 | Endocrinology and Multisystemic Diseases P2 | ESPE2016

Clinical Assessment of Hypercalciuria and Hypomagnesemia in Patients with Bartter Syndrome and Gitelman Syndrome

Li Wenjing , Gong Chunxiu , Su Chang , Cao Bingyan , Wu Di

Background: Bartter syndrome (BS) and Gitelman syndrome (GS) have similar clinical manifestations. It’s hard to be distinguished by the symptoms and laboratory, even though the genetic analysis cannot identify them precisely. The precise diagnoses associate with the right treatment and prognosis. Hypercalciuria usually involved with neonate type Bartter syndrome, and hypomagnesemia with Gitelman syndrome.Objective a...

hrp0086p1-p819 | Syndromes: Mechanisms and Management P1 | ESPE2016

Clinical and Molecular Characterization of a Newly Recognized Overgrowth Syndrome: Interstitial 7q22.1-7q22.3 Microdeletion

Cheon Chong Kun , Kim Yoo-Mi , Kim Su Young

Background: Overgrowth syndromes comprise a group of disorders associated with excessive growth and other features such as facial dysmorphism, developmental delay, neurological problems and an increased risk of neoplasia. The genetic basis for many of these conditions is being increasingly elucidated. Here, we report on a 3-year-old boy who was referred for evaluation of generalized overgrowth.Objective and hypotheses: Our hypotheses is that unclassified...

hrp0086p1-p827 | Syndromes: Mechanisms and Management P1 | ESPE2016

OSBPL5 Methylation Abnormalities may be Pathogenic in Silver Russell Syndrome Through Genomic Methylation Analysis

Wu Di , Gong Chunxiu , Su Chang , Cao Bingyan

Background: SRS is a typical epigenetic disease. Approximately 40% of patients can not be detected genetic and epigenetic disturbances.Objective and hypotheses: To analysis whether there is unknown genes or imprinted genes associated with pathogenicity of SRS and to detect the fine mapping SRS hypomethylation position through the Illumina Methylation 450K chip to detect genome-wide methylation differences.Method: To detect genome-w...

hrp0082p3-d1-762 | Fat Metabolism &amp; Obesity | ESPE2014

A Rare Case of Sea-Blue Histiocytosis Associated with Niemann–Pick Disease Type B in a 8-year and 9-month Old Boy with Hypertension

Ma Hua-mei , Su Zhe , Li Yan-hong

Background: Sea-blue histiocytosis is a morphological finding that can be associated both with acquired conditions of increased cellular turnover and inborn errors of lipid metabolism.Objective and hypotheses: To present a Chinese boy of hypertension and sea-blue histiocytosis secondary to Niemann–Pick disease type B.Methods: Diagnosis was confirmed by the bone marrow aspiration and the specific enzyme assay of leukocytes (def...

hrp0084p2-504 | Perinatal | ESPE2015

Association of Dll4 Levels and VEGFR-1, VEGFR-2 in Mice Model of Oxygen-Induced Retinopathy

Liu Wangkai , Su Yihua , Zhuang Siqi , Li Xiaoyu , Li Yijuan

Background: Notch1 – Delta-like ligand 4 (Dll4) signaling pathway has a biological effect of negative feedback regulation to VEGF in retinal vascular development process. There are few studies on the inhibition of Notch1-Dll4 signaling pathway in ROP and the regulatory pathway of VEGF.Objective and hypotheses: 67-day-old mice were divided into oxygen-induced retinopathy group and control group. We took ten mice from each group at postnatal day 7 (p7...