hrp0097p1-294 | GH and IGFs | ESPE2023

A novel variant of IGF1R in a Chinese family with short stature and efficacy of recombinant human growth hormone therapy

Lu Huifei

Introduction: Insulin-like growth factor 1 receptor (IGF1R) mutations lead to systemic disturbances in growth due to widespread IGF1R expression throughout the body. IGF1R is expressed by innate and adaptive immune cells, facilitating their development and exerting immunomodulatory roles in the periphery.Case Report: We detected a novel heterozygous variant c.664 C > T (NM_000875) of IGF1R in a Chinese family with sho...

hrp0092p1-324 | Diabetes and Insulin (2) | ESPE2019

Cataract in Type 1 Diabetes Mellitus Patients- a Nationwide Population-Based Study

Chen Li-Min , Lu Wen-Li

Though most ophthalmologic emphasis has been stressed on the influence of retinopathy on the young diabetic community, lesser known is the complication of cataract, which has resulted in more than half of the blindness worldwide. This study attempts to stratify the epidemiology and risk factors of cataract in the type 1 diabetes mellitus (T1DM) population using data extracted from the National Health Insurance Research Database (NHIRD) in Taiwan.A two-st...

hrp0097p2-275 | Late Breaking | ESPE2023

Comparison of efficacy and safety of Leuprolide acetate depot 3.75 mg four-weekly versus 11.25 mg twelve-weekly in girls with central precocious puberty: A randomized-prospective study.

Helvacıoğlu Didem , Demircioğlu Serap , Güran Tülay , Haliloğlu Belma , Gürpınar Tosun Busra , Kahveci Ahmet , Bereket Abdullah

Context: Clinical experience is limited regarding the efficacy of different depot Leuprolide acetate (dLA) treatment protocols in girls with central precocious puberty (CPP).Aim: To compare the 3.75 mg/4 weeks versus 11.25 mg/12 weeks ıntramuscular injection of dLA in suppressing gonadotropins and pubertal development.Subjects and Methods: In a prospective study, 92 girls wit...

hrp0097p2-288 | Late Breaking | ESPE2023

Validation of utility of a single LH measurement 40 minutes after depot Leuprolide acetate 3.75 mg and 11.25 mg in assessing gonadotropic activity in girls with CPP: Comparison with a standard GnRH stimulation test at diagnosis and during treatment.

Helvacıoğlu Didem , Demircioğlu Serap , Güran Tülay , Haliloğlu Belma , Türkmen Nilsu , Gurpınar Tosun Buşra , Kahveci Ahmet , Bereket Abdullah

Context: Intravenous Gonadotropin-Releasing-Hormone (GnRH) stimulation test has a central role in evaluating gonadotropic activation in the diagnosis and monitorization of the treatment in patients with central precocious puberty (CPP). However, this test is invasive, laborious, costly and availability of GnRH preparation is limited in some countries.Objective: To evaluate the utility of the LH level measured 40-minutes ...

hrp0095p1-36 | Diabetes and Insulin | ESPE2022

Human umbilical cord derived mesenchymal stem cells alleviate T1DM model via TGFBI-mediated T cells proliferation

Wu Chushan , Xu Tingting , Li Lu , zheng Rongxiu

Type 1 diabetes mellitus is autoimmune T cells mediated destruction of β-cells. Mesenchymal stem cells (MSCs) are considered a promising treatment for T1DM due to the strong immunosuppressive and regenerative capacity. However, the comprehensive mechanism is still unclear. Our previous study indicated that the transforming growth factor beta-induced gene (TGFBI) is highly expressed in human umbilical cord derived mesenchymal stem cells (hUC-MSCs), which is also implicated...

hrp0092t11 | Top 20 Poster | ESPE2019

Droplet Digital PCR Techniques to Detect R201 Mutations in the Mccune-Albright Syndrome

Lu Wenli , Xie Yiwen , Wang Junqi , Wang Wei

Background: MAS is a rare disorder, this syndrome is classically characterized by a triad of physical signs: cafe-au-lait skin pigmentation(SP), fibrous bone dysplasia(FD), peripheral precocious puberty(PPP). In children, the most frequent initial presentation of MAS is PPP. MAS is caused by postzygotic activating mutations at the R201 codon of the GNAS gene, leading to a state of somatic mosaicium. In MAS patients, the frequency of mutations is expected to be...

hrp0092p3-32 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

A Chinese Girl Suffered Both Osteogenesis Imperfecta and Mucopolysaccharidosis: Trio WES Could Tell us More

Zheng Zhangqian , Yang Lin , Lu Wei , Luo Feihong

Case: A 7-year-old female revealed short bowed femurs and humeri with old fractures and bowed tibias and fibulas. Her height was 97cm and weight was 11kg. Her younger sister had the same phenotype as same as her mother. The Trio WES test showed that they all inherited from their mother's COL1A2 gene mutation (c.928G>A; p.G328S) and diagnosed Osteogenesis Imperfecta, type IV. Unfortunately, the 7-year-old girl also presents coarse face, short neck, limi...

hrp0089p2-p336 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

A Novel Mutation in 5’; Untranslation Region of Makorin Ring Finger 3 Gene Associated with the Familial Precocious Puberty

Lu Wenli , Wang Junqi , Li Chuanyin , Hu Ronggui , Wang Wei

Central precocious puberty (CPP) is the endocrine disorder triggering by many factors those can activate the hypothalamic-pituitary-gonadal axis early which controlled GnRH secretion. However, the mechanism of CPP has not been elucidated. The study of patients with familial CPP helped understanding the complex physiological processes. Recently, loss-of-function mutations in human Makorin ring finger protein 3 (MKRN3) were found to contribute to over 30% of cases of familial CP...

hrp0089p1-p256 | Thyroid P1 | ESPE2018

Mutation Screening in 60 Chinese Patients with Congenital Hypothyroidism

Zheng Zhangqian , Lu Wei , Wu Jing , Luo Feihong

Objectives: Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder in infancy. The aim of this study was to screen for reported gene mutations among CH patients in our hospital and to illustrate a genetic mutation spectrum of CH in China.Methods: We designed a gene panel consisting of more than 20 relevant genes including TSHR and DUOX2. Blood samples were collected from 60 CH patients and their parents in Children’s Hospital ...

hrp0086p1-p377 | Gonads & DSD P1 | ESPE2016

Effect and Safety Aspects of Percutaneous Administration of Dihydrotestosterone in Children with Micropenis with Different Genetic Background

Luo Feihong , Xu Dan , Xi Li , Cheng Ruoqian , Lu Liangsheng

Background: Micropenis may result from different aetiology and therapy data are still scarce.Objective and hypotheses: To investigate the effect and safety of dihydrotestosterone transdermal gel in children with micropenis.Method: Totally 23 agnogenic micropenis children with 46,XY karyotype were recruited to participate a perspective study. SRY, AR and SRD5A2 gene were sequenced. 2.5% DHT gel was applied individually based on the ...