hrp0089p3-p263 | Growth & Syndromes P3 | ESPE2018

A Patient with Turner Syndrome (45X/46XX) and Congenital Adrenal Hyperplasia

Wang Yirou , Ding Yu , Chang Guoying , Chen Yao , Shen Yiping , Wang Xiumin , Wang Jian

An association between Turner syndrome (TS) and Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency is rare. TS is caused by partial or complete loss of the second sexual chromosome which leads to genital system malformation and infertility. 21-hydroxylase deficiency is a well-known cause of disorder of sexual development in genotypic female neonates.The aim of our study is to report this patient and stress this rare possibility. A 8-month-old patient sufferi...

hrp0089p2-p264 | Growth & Syndromes P2 | ESPE2018

Targeted/Exome Sequencing Identified Mutations in 55 Chinese Children Diagnosed with Noonan Syndrome and a Autosomal Recessive form Associated with LZTR1 Variants

Li Xin , Yao Ruen , Chen Yao , Chang Guoying , Ding Yu , Li Juan , Shen Yiping , Wang Xiumin , Wang Jian

Background: Noonan syndrome (NS) is generally considered an autosomal dominant, multisystemic disorder caused by dysregulation of the RAS/mitogen activated protein kinase (MAPK) pathway. The latest research confirmed the existence of a form of Noonan syndrome that is inherited in an autosomal recessive pattern and identify biallelic mutations in LZTR1. In this study, we diagnosed 55 Chinese NS Children via targeted sequencing or whole exome sequencing (TS/WES).<p ...

hrp0095rfc5.5 | Adrenals and HPA Axis | ESPE2022

Mosaic PRKACA duplication causing a novel and distinct phenotype of early-onset Cushing syndrome and acral cutaneous mucinosis

M McGlacken-Byrne Sinead , Abdelmaksoud Ashraf , Haini Mohammad , Palm Liina , Ashworth Michael , Li Juan , Wang Wei , Wang Xiumin , Wang Jian , Callaghan Bridget , A Kinsler Veronica , Faravelli Francesca , T Dattani Mehul

Introduction: Genetic alterations within the cAMP/PKA pathway, including the genes GNAS, PDE11A, PDE8, PRKAR1A/B, and PRKACA, result in a spectrum of adrenocortical disorders. To date, somatic PRKACA variants and germline PRKACA copy number gain have been associated with the development of cortisol-secreting adrenocortical adenomas and bilateral adrenal hyperplasia, respectively. While variants within the PRKAR1A ge...

hrp0095rfc4.4 | Fat, Metabolism and Obesity | ESPE2022

New insights of monogenic hypercholesterolemia in pediatric patients: basing on a Chinese cohort

Zhang Qianwen , Wang Xiumin

Background and objectives: Dyslipidemia especially hypercholesterolemia attracts much more attention recently. Given different management and treatment of multiple categories, precise diagnosis becomes increasingly important. However, studies in pediatric patients lacks around the world, especially in China. Consequently, this study was designed to confirm the molecular defect of persistent hypercholesterolemia with next-generation sequencing basing on a singl...

hrp0095p1-422 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

A heterozygous variant of CYP3A4 in a Chinese boy with Vitamin D-dependent rickets type 3

Gu Shili , Wang Xiumin

Background: Vitamin D-dependent rickets type 3 (VDDR3) is a rare autosomal dominant inheritance disease, which is caused by the gain-of-function mutation in CYP3A4 (c.902T>C p.Ile301Thr).Case Presentation: We report the case of a 32-month-old boy presented with discomfort of both knee-joints, poor mobility, and gait abnormality when running. Laboratory examinations revealed low concentrations of serum calcium, phospho...

hrp0094p2-323 | Growth and syndromes (to include Turner syndrome) | ESPE2021

A novel CEP57 mutation of mosaic variegated aneuploidy syndrome in a Chinese girl: a case report and review of literature

Feng Biyun , Zhang Qianwen , Wang Xiumin ,

Background: Mosaic variegated aneuploidy syndrome(MVA)is a rare genetic disease characterized by mosaic aneuploidies, intrauterine growth restriction, developmental delay, microcephaly, facial dysmorphism, mental retardation, and susceptibility to tumor. It is autosomal recessive and caused by mutations in BUB1B, CEP57, and TRIP13. This study hereby presents a 9-year-old girl with intrauterine growth restriction, short stature, microcephaly, faci...

hrp0094p1-156 | Fetal Endocrinology and Multisystem Disorders B | ESPE2021

Molecular and phenotypic profile of Alstrom syndrome in Chinese patients:results from a Chinese cohort

Zhang Qianwen , Ding Yu , Wang Yirou , Wang Xiumin , Fu Lijun ,

Introduction: Alstrom syndrome, inherited in autosomal-recessive manner, is a complex multi-system disease including obesity, sensorineural hearing loss, retinal dystrophy, cardiomyopathy, type 2 diabetes mellitus, and multiple organ fibrosis. ALMS1 is the defective protein of Alstrom syndrome. The protein is located in the basal body of the primary cilia and involved in ciliary function. Large cohorts of Alstrom syndrome lack around the world, especially in E...

hrp0089p3-p190 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Clinical and Molecular Genetic Characterization of Two Patients due to Mutations

Ding Yu , Li Niu , Chang Guoying , Li Juan , Yao Ruen , Shen Yiping , Wang Jian , Huang Xiaodong , Wang Xiumin

Background: The Phosphoglucomutase 1 (PGM1) enzyme plays a central role in glucose homeostasis by catalyzing the inter-conversion of glucose 1-phosphate and glucose 6-phosphate. Recently, PGM1 deficiency was recognized to cause the congenital disorders of glycosylation (CDGs). PGM1 deficiency is a rare, autosomal recessive inherited disease which can cause the extreme variability of clinical symptoms multi-organ dysfunction, including ketotic hypoglycemia, dilated cardiomyopat...

hrp0095p1-558 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Simultaneous quantification of 51 steroids in pediatric plasma and urine samples by LC–MS/MS

Wu Xiaoyu , Chen Yao , Li Xiaoqing , Xue Peng , Tang Jingyi , Yu Xiaodan , Zheng Liang , Wang Xiumin , Liu Shijian

Quantitative analysis of endogenous and exogenous steroid hormones is an important step for our understanding of the causes of endocrine disorders in pediatric. In this study, we developed a method to simultaneously quantify endogenous and exogenous steroids in pediatric urine and plasma. Ultra-performance liquid chromatography-tandem mass spectrometry (LC-MS/MS) was used to simultaneously quantify steroid hormones in children plasma and urine. Under the optimum conditions, th...

hrp0092t20 | Top 20 Poster | ESPE2019

Molecular and Phenotypic Spectrum of Noonan Syndrome in Chinese Patients

Li Xin , Yao Ruen , Tan Xin , Li Niu , Ding Yu , Li Juan , Chang Guoying , Chen Yao , Ma Lizhuang , Wang Jian , Fu Lijun , Wang Xiumin

Background: Noonan syndrome (NS) is a common autosomal dominant/recessive disorder. No large-scale study has been conducted on NS in China, which is the most populous country in the world.Methods: Next-generation sequencing (NGS) was used to identify pathogenic variants in patients that exhibited NS-related phenotypes. We assessed the facial features and clinical manifestations of patients with pathogenic or likely patho...