hrp0092p2-294 | Thyroid | ESPE2019

A New Case of Thyroid Hormone Resistance α Caused by a Mutation of THRA/TRa1

Chen Linqi , Sun Hui , Chen Xiuli , Chen Ting

The action of Thyroid hormone (T3) is mediated by the binding to nuclear receptors (TRa1, TRα1/2), which are ligand dependent transcription factors, encoded by the THRA and THRB genes. THRA germline mutations cause a rare genetic disease called resistance to thyroid hormone α (RTHα) first reported in 2012 . Only 20 missense and frameshift mutations have been reported to date, From this small group of patients, and analysis of animal models, it emerges that the d...

hrp0089p2-p113 | Diabetes & Insulin P2 | ESPE2018

Detection and Analysis of Glycometabolism Related Genes in Children Diabetes

Chen Lin QI , Wang Xiao Yan , Wu Hai Ying , Chen Ting , Chen Xiu Li , Sun Hui , Wang Feng Yun

Objective: To know more about the etiology and mechanism of antibody-negative diabetes, screening MODY pathogenicity genes and deepening understanding of islet autoantibody-negative diabetes, so as to individualized precision treatment.Methods: A total of 31 subjects with diabetes who had negative islet autoantibodies and C-peptide ≥0.3 ng/ml were collected. Another group was the type 1 diabetes control group, After informed consent obtained patien...

hrp0094p1-141 | Sex Endocrinology and Gonads B | ESPE2021

Screening of serum differential proteins in girls with rapidly progressing central precocious puberty with TMT quantitative proteomics

Xie Rongrong , Zhang Dandan , Wu Haiying , Wang Fengyun , Chen Xiuli , Chen Ting , Sun Hui , Wang Xiaoyan , Song Mengjia , Chen Linqi

Objective: To screen and identify serum differentially expressed proteins in girls with rapidly progressing central precocious puberty and healthy girls by proteomics. Methods: 15 idiopathic central precocious puberty girls and 15 healthy children were admitted to the Children’s Hospital of Suzhou University from August 2017 to October 2018.After mixing in the group, the high-abundance protein was removed and quantified ...

hrp0082p1-d2-36 | Bone | ESPE2014

Sun Protection Habits and Calcium Intake in Children with Malignancy

Levy-Shraga Yael , Pinhas-Hamiel Orit , Ben Ami Michal , Yeshayahu Yonatan , Temam Vered , Cohen Rinat , Modan-Moses Dalit

Background: U.V. radiation exposure is the major environmental risk factor for skin cancers. However, sun avoidance leads to inadequate vitamin D levels which impair bone health. Moreover, numerous studies linked decreased sunlight exposure to non-skin cancer incidence or survival.Objective and hypotheses: To compare sun habits in a cohort of paediatric patients with a history of malignancy to healthy controls. We hypothesized that sun exposure will be d...

hrp0089p3-p012 | Adrenals and HPA Axis P3 | ESPE2018

Deep Bronze Skin without Sun Exposition in a 16-Year Old Girl

Jasser-Nitsche Hildegard , Loffler Sabine , Suppan Elisabeth , Weinhandl Gudrun , Frohlich-Reiterer Elke

Introduction: Adrenal insufficiency (AI) leads to a diminished production of steroid hormones. AI is subdivided into a primary and a secondary form. In primary AI, the underlying defect affects the adrenal gland itself resulting in a low steroid production and an overproduction of adrenocorticotropic hormone (ACTH). On the contrary, the cause of secondary AI lies in the pituitary, leading to a reduced production of ACTH and consecutively to a reduced excretion of corticosteroi...

hrp0082p2-d2-305 | Bone (1) | ESPE2014

Status of Vitamin D in Pregnancy to Childhood in Northern Spain: Seasonality, Sun Exposure, and Intake

Rodriguez-Dehli Ana Cristina , Riano-Galan Isolina , Velazquez Ines Olaya , Fernandez-Somoano Ana , Castilla Ane Miren , Espada Mercedes , Navarrete-Munoz Eva M , Tardon Adonina

Background: Vitamin D3 (25OHD) insufficiency is becoming a public health issue. Adequate 25OHD status during pregnancy may influence the health status of the offspring.Objective and hypotheses: To evaluate the levels of 25OHD during pregnancy (at 12 weeks) and at 4 years old, assessing seasonality, time of sun exposure, and intake.Method: Data were obtained from 485 pregnant mothers recruited in Asturias between 2004 and 2007 and t...

hrp0084p3-1166 | Puberty | ESPE2015

Functional MRI of a Female Teenager of Prada-Willi Syndrome Complicated with Mosaic Turner Syndrome

Wang Wei , Li Juan , Sun Ying , You Hui , Ma Chao , Song Hongmei , Zhao Weigang

Background: A patient with both Prader-Willi syndrome and mosaic Turner syndrome is extremely rare. We performed fMRI and euglycaemic-hyperinsulinaemic clamp test for her.Case presentation: A 17-yr-old girl was diagnosed as Prader-Willi syndrome by her clinical investigations including poor feeding in infancy, hyperphagia, developmental delay, mental disorders, behavior problems, thin upper lip, almond-shaped eyes, acromicria and genital hypoplasia. Mate...

hrp0082p2-d2-302 | Bone (1) | ESPE2014

Plasma 25-OH Vitamin D and pth Concentrations in Cord Blood: relationship with Ethnic Groups, Nutritional Habits and Degree of Maternal Sun Exposure

Ortigosa Gomez Sandra , Garcia Algar Oscar , Mur Sierra Antonio , Ferrer Costa Roser , Carrascosa Lezcano Antonio , Yeste Fernandez Diego

Introduction: Several studies showing a high prevalence of vitamin D deficiency in pregnant women have been published in recent years. Vitamin D deficiency during pregnancy has been related to adverse events both in mother and child. Plasma 25-OH vitamin D (25(OH)D) levels in the newborn are dependent on maternal deposits and show a close correlation with maternal levels; thus, neonates of vitamin D-deficient mothers present a greater risk of hypocalcaemia, rickets and a highe...

hrp0089p2-p006 | Adrenals and HPA Axis P2 | ESPE2018

Analysis of Phenotypes and Genotypes in 84 Patients with 21-hydroxylase Deficiency

Hou Lele , Lin Shaofen , Meng Zhe , Ou Hui , Liu Zulin , Zhang Lina , Jiang Zhuannan , Liang Liyang

Background and Aims: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by impaired cortisol synthesis. 21-hydroxylase deficiency (21-OHD) caused by mutations in CYP21A2 gene is the most common form of CAH. This study aims to analyze the phenotype-genotype correlation and the characteristics of gene mutation frequency of 21-OHD patients in China, helping to provide evidence for clinical practice and genetic counseling of 21-OHD patie...

hrp0086p2-p675 | Growth P2 | ESPE2016

The Effects and Safety of Recombinant Human GH (rhGH) Treatment on Growth Hormone Deficiency in Children with Rathke’s Cleft Cyst

Liyang Liang , Zhe Meng , Lina Zhang , Hui OU , Lele Hou , Zulin Liu

Background: Rathke’s cleft cyst (RCC) has been reported rarely in children and adolescents. The occurrence of RCC with hypoplastic anterior pituitary can be explained by their common embryologic origin. However, the effects and sfety of recombinant human GH (rhGH) in GH deficient (GHD) children with RCC has not been previously reported.Objective and hypotheses: To assess the effects and safety of recombinant human GH (rhGH) in GH deficient (GHD) chi...