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...

hrp0094p2-324 | Growth and syndromes (to include Turner syndrome) | ESPE2021

A Patient with Turner Syndrome (45X/46XX) and Congenital Adrenal Hyperplasia: A Case Report and Literature Review

Wang Yirou ,

Background: The combination of Turner syndrome (TS) and congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency is rare. These two diseases affect childrenÂ’s growth and development through different endocrine hormone metabolic dysfunction.Case presentation: A patient suffering from ambiguous genitalia was referred to our hospital when she was 2 months old. Her length was 58 cm (+0.9 standard deviation, SD) and weigh...

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...

hrp0095p1-205 | Adrenals and HPA Axis | ESPE2022

Exploring the growth curves of 248 Chinese patients aged 0-3 years with salt-wasting 21-hydroxylase deficiency

Li Yingying , Fan Xin , Wang Yirou , Zhao Xiu , Pan Lili , Yu Yuting , Gong Gong Chunxiu , Su Zhe

Background: To construct the growth curves of body length and weight for Chinese patients from birth to 3 years with salt-wasting 21-hydroxylase deficiency (SW 21-OHD), changes in body mass index (BMI) will also be described, so as to explore the growth pattern of these special patients and guide the monitoring of early growth.Methods: The body length and weight data of SW 21-OHD patients aged 0-3 years who visited in 4 ...

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...

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 ...