hrp0084fc10.1 | Perinatal Endocrinology | ESPE2015

Effect of Sonic Hedgehog Signalling on Regulation the Expression of 11β-HSD2 in the Placenta

Zou Chao Chun , Wu Xiao Hui , Xiong Wen-Yi

Objective: Excessive exposure to glucocorticoids (GCs) during gestation period not only causes fetal growth retardation but also increases the risk of adult metabolic diseases. 11 Beta-hydroxysteroid dehydrogenase (11β-HSD2) is a kind of glucocorticoid metabolic enzymes, which plays a role to the placental GCs barrier during gestation period. The aim of this study is to investigate the effect and mechanism of sonic hedgehog (Shh) signalling on regulation the expression of...

hrp0098p2-219 | Pituitary, Neuroendocrinology and Puberty | ESPE2024

Adult height in girls with idiopathic central precocious puberty with gonadotropin-releasing hormone agonist and recombinant human growth hormone treatment: a retrospective study

He Wenjuan , Zhao Sha , Zhong Yan , You Cheng , He Yi

Context: Gonadotropin-releasing hormone analogues (GnRHa) and recombinant human growth hormone (rhGH) have been widely used to treat idiopathic central precocious puberty (ICPP),yet the treatment benefit in girls between 8 and 10 years is equivocal.Objective: This study aimto evaluate the effects of GnRHa combined with rhGH on final adult height (FAH) and to identify the factors influencing FAH.<p class="abste...

hrp0095p1-408 | Adrenals and HPA Axis | ESPE2022

Diverse clinical features, genetic etiologies, and histopathological features of adrenal neoplasms in children and adolescents

Choi Yunha , Hwang Soojin , Kim Gu-Hwan , Yoo Han-Wook , Choi Jin-Ho

Purpose: Adrenal neoplasms (ANs) are rare endocrine neoplasms in children, and etiopathogenesis and prognosis of pediatric ANs remain obscure. This study investigated clinical features, histopathological features, genetic etiologies and prognosis of ANs.Methods: This study included 33 ANs patients diagnosed from March 1997 to April 2021. Clinical features and endocrine findings were collected by retrospective medical cha...

hrp0092p1-101 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Identification of Novel Mutations in FGFR1 and Functional Characteristics in Patients with Isolated Gonadotropin-Releasing Hormone Deficiency

Lee Yena , Huh Juyoung , Oh Arum , Kim Gu-Hwan , Yoo Han-Wook , Choi Jin-Ho

Background: Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is caused by a deficiency in GnRH production, secretion or action and a highly heterogeneous disorder with wide phenotypic spectrum including Kallmann syndrome (KS) with anosmia and normosmic idiopathic hypogonadotropic hypogonadism (nIHH). More than 30 different causative genes have been identified in several studies. FGFR1 mutations have been identified in about 3–10&#3...

hrp0092p3-179 | Multisystem Endocrine Disorders | ESPE2019

Clinical and Molecular Characteristics of Pediatric Patients with Multiple Endocrine Neoplasia (MEN)

Lee Yena , Oh Arum , Kim Gu-Hwan , Yoo Han-Wook , Choi Jin-Ho

Purpose: Multiple endocrine neoplasia (MEN) is a rare, autosomal dominantly inherited cancer syndrome caused by a mutation in MEN1 or RET gene. Identification of the genetic causes of the MEN is critical because genotype provides information on timing of prophylactic surgery in patients with MEN type 2 who have clinically silent tumors. Therefore, this study investigated clinical phenotype and molecular characteristics of children with MEN in...

hrp0089p2-p070 | Diabetes &amp; Insulin P2 | ESPE2018

Frequency and Etiologic Spectrum of Monogenic Diabetes in Pediatric Diabetes in a Single Academic Center

Choi Jin-Ho , Seo Go Hun , Oh Arum , Kim Gu-Hwan , Yoo Han-Wook

Purpose: Type 1 diabetes mellitus (DM) is the most common cause of diabetes in children and adolescents. Prevalence of monogenic DM is estimated for about 1%–5% of all patients with DM. Overlapping clinical features of various forms of diabetes make differential diagnosis challenging. This study was performed to investigate frequency and genetic etiologies of monogenic diabetes in a single academic center.Methods: This study included 466 consecutive...

hrp0089p1-p246 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

Clinical Phenotypes and Mutation Spectrum of Patients with Isolated Gonadotropin-Releasing Hormone Deficiency in a Single Academic Center

Yoo Han-Wook , Seo Go Hun , Oh Arum , Kim Gu-Hwan , Choi Jin-Ho

Background: Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is caused by a deficiency in GnRH production, secretion or action. IGD is a highly heterogeneous disorder with wide phenotypic spectrum including Kallmann syndrome (KS) with anosmia and normosmic idiopathic hypogonadotropic hypogonadism (nIHH). More than 30 different causative genes have been identified in several studies. However, there are no data on the prevalence, clinical characteristics, and mole...

hrp0086p2-p710 | Endocrinology and Multisystemic Diseases P2 | ESPE2016

Endocrine Dysfunction in Children and Adolescents with CHARGE Syndrome

Choi Jin-Ho , Kang Eungu , Kim Yoon-Myung , Kim Gu-Hwan , Yoo Han-Wook

Background: CHARGE syndrome is a complex of congenital malformations affecting multiple organ systems caused by mutations in CHD7.Objective and hypotheses: This study was performed to evaluate endocrine dysfunctions including hypogonadotropic hypogonadism, growth hormone deficiency, or hypothyroidism in patients with CHARGE syndrome.Method: Eighteen patients (10 males and 8 females) with CHARGE syndrome were included. A di...

hrp0082p3-d1-985 | Thyroid | ESPE2014

Trends in Incidence of Permanent and Transient Congenital Hypothyroidism in Shanghai China

Fan Xin , Gu Xuefan , Luo Jingsi , Qiu Wenjuan , Ye Jun , Chen Shaoke , Xu Jianfeng

Background: Congenital hypothyroidism (CH) is a major target of new born screening. It has two major forms (permanent and transient) that have different prognoses.Objective and hypotheses: The purposes of this study were to assess the trends in incidence of permanent and transient CH in China, and to identify clinical variables that may help to distinguish these two forms of CH.Method: Newborns were screened for CH at Xinhua Hospit...

hrp0084p1-24 | Diabetes | ESPE2015

The Influence of miR-125b in Pancreatic β-Cell Apoptosis

Han Bei , Zhu Ziyang , Gu Wei , Ni Shining , Yang Ruixue , Shi Xing , Yuan Xuewen , Gao Wentao

Background: Type 1 diabetes is characterised by destruction of islet β cell by autoimmune insulitis and islet cell apoptosis. This study analysed the microRNA 125b how to regulate pancreatic β-cells dysfunction, aiming to elucidate the association between miRNA125b and type 1 diabetes.Objective and hypotheses: Recent study indicate miRNA may have role in the development of type 1 diabetes, so this study analyse the miRNA expression profile in t...