hrp0097p2-263 | Late Breaking | ESPE2023

The gene diagnostic challenge of extrem early-onset obesity before 6 years old

Chen Si , Cheng Xinran , Li Zhonghui , Ge Liyuan , Wang Liuxu

Purpose: The causes of obesity is so much that the pandemic spread the global. The inherited factors have a profound effect on body fat mass, as well as the environmental factors. Out of these, the foremost is genetic factors that tend to early childhood obesity. The consensus recommended that genetic testing is necessary for serious early onset obesity to identify the pathogenic genes of inherited obesity. In order to improve the positive rate of genetic test...

hrp0095p1-123 | Growth and Syndromes | ESPE2022

Single center analysis of the characteristics of 24-hour ambulatory blood pressure and related factors in patients with Turner syndrome

Zheng Rujiang , Chen Hongshan , Huang Huiling , Ma Huamei , Li Yanhong , Chen Qiuli , Zhang Jun , Guo Song , Wang Bing , Du Minlian

Background and Objectives: In the patients with Turner syndrome (TS), the risk of hypertension is higher in childhood and adulthood. The aim of the study was to retrospectively analyze 24-hour ambulatory blood pressure monitoring (ABPM) in children and adolescents with TS and its related factors.Materials and Methods: A retrospective study was conducted involving TS patients admitted to our pediatric endocrine specialist...

hrp0095p2-233 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Central precocious puberty in a girl with vasculitis-related moyamoya syndrome

Xie Dandan , Chen Qiuli , Ma Huamei , Jiang Bo , Li Yanhong , Zhang Jun , Guo Song , Zheng Rujiang , Chen Zhixin

Object: To raise the awareness of clinical manifestations about vasculitis-related moyamoya syndrome by summarizing the clinical characteristics of a girl with central precocious puberty, vasculitis-related moyamoya syndrome and reviewing the literature. Method: We carried on the review analysis to the patient with central precocious puberty, vasculitis-related moyamoya syndrome and reviewed the literature. Result: The bilateral breast development was the prim...

hrp0092p3-241 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

46XY, DSD with Hemolytic Uremic Syndrome as the Primary Manifestation——Denys–Drash Syndrome Caused by WT1 Gene Mutation

zhang jun , guo song , chen qiuli , ma huamei , li yanhong , chen hongshan , du minlian , cheng cheng , ye minyi

Objective: To summarize the diagnosis and treatment of a rare 46XY DSD cause: Denys-Drash syndrome.Methods: To summarize the clinical manifestations, laboratory tests, diagnosis and treatment of a rare 46XY DSD cause presenting with hemolytic uremic syndrome: Denys-Drash syndrome (WT1 mutation).Results: Female, 2 years and 4 months, were admitted to the hospital at 2018-11-7 becaus...

hrp0082p2-d3-610 | Turner Syndrome | ESPE2014

Therapeutic Effects of GH Combined with Low-Dose Stanozolol on Growth Velocity and Final Height of Girls with Turner Syndrome

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

Objective: This study aimed to investigate the therapeutic effects of recombinant human GH (rhGH) combined with low-dose stanozolol on the growth and final adult height (FAH) of girls with Turner syndrome (TS).Method: A total of 47 girls with TS were treated with rhGH (47.6–52.4 μg/kg per day) and low-dose stanozolol (20–35 μg/kg per day), starting at a mean age of 12.57±1.96 year. The control group consisted of 26 girls with TS,...

hrp0084p2-455 | Growth | ESPE2015

Effect of Aromatase Inhibitor Treatment During Adolescence on the Final Adult Height in Males with Idiopathic Short Stature

Yan-hong Li , Min-lian Du , Hua-mei Ma , Hong-shan Chen , Qiu-li Chen , Jun Zhang

Background: Aromatase inhibitors (AIS) can block the conversion of androgens to estrogens, thus can be used to delay bone maturation in males, however, the effect on improvement of final adult height (FAH) is still controversial.Objective and hypotheses: A prospective study was performed to evaluate the effect of letrozole used on the FAH in males with idiopathic short stature (ISS).Method: 55 boys with ISS and had entered puberty ...

hrp0097p1-219 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

An investigation of vitamin D deficiency in children with new onset type 1 diabetes mellitus from Henan Province, China

Chen Qiong , Yuan Shuxian , Chen Yongxing , Li Tao , Yang Wei , Huang Ai , Liu Fang , Cao Bingyan , Wei Haiyan

Several observational studies have reported vitamin D deficiency (VDD) in children with type 1 diabetes mellitus (T1DM). The investigation of VDD in children with new onset T1DM in China is lacking. The current study aimed to assess vitamin D status and examine the factors that influence VDD in children with new onset T1DM in Henan Province, China. Children with new onset T1DM (n=280) and healthy controls (n=710) were enrolled in Henan Province. Demographic a...

hrp0095p2-229 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

12 years follow-up of GH/PRL secreting pituitary macroadenoma in a child with McCune Albright syndrome

Wei Mei-hua , Li Yan-hong , Xie Liu-lu , Ma Hua-mei , Chen Qiu-li , Chen Hong-shan , Du Min-lian

Background: McCune-Albright Syndrome(MAS)includes fibrous dysplasia(FD), cafe-au-lait spots and gonadotropin-independent precocious puberty(PP). Adenohypophyseal hyperfunction syndromes is uncommon but may be potentially severe complication.Objective: To report a girl who has been confirmed McCune-Albright syndrome and has been found pituitary adenoma during follow-up.Methods:</stron...

hrp0095p1-117 | Growth and Syndromes | ESPE2022

The elevated levels of Fetuin-A and FGF21 are correlated with metabolic indicators in Turner syndrome

Yao Qian , Chen Ruimin , Yuan Xin , Zhang Ying , Shangguan Huakun , Lin Xiangquan , Yang Xiaohong

Objective: To find the roles of Fetuin-A and FGF21 in metabolic disorders through investigating the correlations between Fetuin-A, FGF21 with metabolic indicators in girls with Turner syndrome (TS).Methods: A cross-sectional study of TS girls ranging from 5 to18 years and age-, body mass index (BMI)- matched healthy girls were recruited from the outpatients in Fuzhou Children’s Hospital of Fujian Medical University...

hrp0095p1-328 | Growth and Syndromes | ESPE2022

A real-world study of persistence with daily growth hormone therapy among children with growth hormone deficiency in Japan

Loftus Jane , Wogen Jenifer , Benjumea Darrin , Jhingran Priti , Chen Yong , Alvir Jose , Wajnrajch Michael

Background: Paediatric growth hormone deficiency (PGHD) is treated with daily somatropin (recombinant human growth hormone) injections. High rates of discontinuation and poor adherence to treatment, which are associated with worse growth outcomes, have been documented previously, for example in the US and EU. Discontinuation of somatropin has not yet been evaluated using real-world data in Japan.Objectives: To describe d...