hrp0092p1-225 | Growth and Syndromes (to include Turner Syndrome) (1) | ESPE2019

The Phenotypic Spectrum of Kabuki Syndrome in Patients of Chinese Descent

Wang Yirou , Li Niu , Su Zhe , Xu Yufei , Liu Shijian , Chen Yao , Li Xin , Shen Yiping , Wang Jian , Wang Xiumin , Bodamer Olaf

Background: Kabuki syndrome (KS) is a rare dominant disorder of transcriptional regulation with a complex phenotype including cranio-facial dysmorphism, intellectual disability, developmental delay, hypotonia, failure to thrive, short stature and variable cardiac and renal anomalies. Mutations in either KMT2D or KDM6A cause KS. While the phenotype of KS has been reported in many ethnicities, little is known about the phenotypic spectrum of KS...

hrp0092p2-188 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Clinical and Molecular Genetic Characterizations of Five Patients Harboring Mutations in the GNAS Gene: A Case Series and Literature Review

Li Xin , Chang Guoying , Wang Yirou , Xu Yufei , Li Guoqiang , Li Xin , Li Juan , Ding Yu , Chen Yao , Wang jian , Wang Xiumin

Objective: Inactivating mutations in the gene encoding the alpha-subunit of Gs (GNAS) gene, which consists of exons 1-13 and encodes the alpha-subunit of the stimulatory G protein (Gsa), are associated with several clinical syndromes, including pseudohypoparathyroidism (PHP), pseudopseudohypoparathyroidism (PPHP), and progressive osseous heteroplasia (POH).Method: We documented patient clinical characteristics a...

hrp0094p2-414 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

A novel mutation of SOX2 gene in an idiopathic hypogonadotropic hypogonadism patient with olfactory bulb agenesis

Tang Yijun , Chen Yao , Feng Biyun , Li Qun , Wang Yirou , Li Xin , Chang Guoying , Li Juan , Ding Yu , Wang Jian , Wang Xiumin

Objective: To enhance the understanding of the clinical phenotypes of patients with SOX2 gene mutations.Method: A retrospectively analysis of the clinical manifestations and the laboratory results of a child diagnosed as idiopathic hypogonadotropic hypogonadism(IHH) by whole exome-gene sequencing and a review of relevant literatures.Results: A 12-year-old boy clinically manifested short stature, mental retardation, a histo...

hrp0089p3-p308 | Pituitary, Neuroendocrinology and Puberty P3 | ESPE2018

Efficacy of Ziyin Xiehuo Granules and Zishen Qinggan Granules in girls with Partial Precocious Puberty: A Multicenter, Randomized, Single-Blinded, Controlled Trial

Sun Wen , Han Xinhui , Yu Jian , Wang Yonghong , Yan Weili

Objective: To evaluate the effect of Ziyin Xiehuo granules (ZYXH) and Zishen Qinggan granules (ZQ7G) on partial precocious puberty (PPP).Methods: The present study was a multicenter, randomized, single-blinded, positive-controlled trial. A total of 143 patients were assigned to either the ZYXH group or the ZQ7G group using a random number table. The ZYXH group received ZYXH three times daily for 6 months, while the ZQ7G group received ZQ7G three times da...

hrp0092p2-177 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Five Novel Variants of KMT2D/KDM6A Found in Seven Chinese Patients with Kabuki syndrome and a Literature Review of 39 Patients Reported in China

Chen Ruimin , Gong Chunxiu , Shangguan Huakun , Su Chang , Ouyang Qian , Cao Bingyan , Wang Jian

Objective: Report 5 new variants of 7 KMT2D/KDM6A and summarize the clinical manifestations and the mutational spectrum of Kabuki syndrome (KS) by analyzing the reported Chinese cases.Methods: Blood samples were collected for whole-exome sequencing (WES) for 7 patients and their parents if available. Phenotypic and genotypic spectra of 39 previously published unrelated Chinese KS patients were summarized.<p ...

hrp0089p3-p263 | Growth &amp; 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...

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...

hrp0089p2-p264 | Growth &amp; 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 ...

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...

hrp0092p1-277 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

New Insights from Unbiased Panel and Whole-Exome Sequencing in a Large Chinese Cohort with Disorders of Sex Development

Xu Yufei , Wang Yirou , Li Niu , Yao Ruen , Li Guoqiang , Li Juan , Ding Yu , Chen Yao , Huang Xiaodong , Chen Yuling , Qing Yanrong , Yu Tingting , Shen Yongnian , Wang Xiumin , Shen Yiping , Wang Jian

Context: Diagnosis of non-chromosomal type disorders of sex development (DSD) has long been challenging. There is still no research on overview of a large Chinese DSD cohort.Objective: To determine the etiologic diagnosis through unbiased large-scale panel sequencing and whole-exome sequencing (WES) within a large Chinese DSD cohort.Design: Patients were recruited according to the ...