hrp0097p1-587 | Thyroid | ESPE2023

Analysis of disease types and prognosis of children with nonthyroid illness syndrome

Gou Peng , Cheng Xinran

Objective: The purpose of this article is to retrospectively summarize the disease types and prognosis analysis of children's nonthyroid illness syndrome (NTIS), improve the diagnostic awareness of children's NTIS, and explore whether thyroxine replacement therapy is required or whether the body has a self-healing trend.Methods: The clinical data of 47 cases (32 males and 15 females) of NTIS diagnosed in variou...

hrp0097p2-262 | Late Breaking | ESPE2023

A new case of Malan Syndrome with de novo NFIX sequence variants and a review of the literature

Leng Jie , Cheng Xinran

Background: We report clinical and molecular cytogenetic characterization of a 13-year-7-month-old boy with a Sotos-like phenotype and de novo NFIX deletions and review the literature.Result: A whole exome sequencing revealed in the present patient with unique clinical phenotypes a de novo frameshift mutation c.570-573delATCA (p.S191Ifs*19) in NFIX gene in 19p13.2.Discussion: The p...

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...

hrp0097p1-553 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

A 12-month, open-label, single-arm, phase 3 trial of the efficacy and safety of triptorelin 3-month formulation in Chinese children with central precocious puberty (CPP)

Luo Xiaoping , Zhang Cai , Yang Yu , Xu Xu , Cheng Xinran , Wei Haiyan , Wang Lanying , Huang Frank , Cabri Patrick

Background: CPP is commonly treated with triptorelin, a gonadotropin-releasing hormone (GnRH) analogue. It is available as 1-month and 3-month prolonged-release (PR) formulations, but only the former is approved for CPP in China. Overseas studies have proved the efficacy and safety of triptorelin 3-month PR formulation; this study evaluated efficacy and safety in Chinese children with CPP.Methods: In this 12-month, open-...

hrp0094p2-393 | Pituitary, neuroendocrinology and puberty | ESPE2021

First Morning Voided Urinary Gonadotropin Measurements for the Early Screening, Diagnosis and Follow-up of Central Precocious Puberty Patients

Ye Feng , Luo Xiaoping , Dong Guoqing , Chen Ruimin , Dong Zhiya , Lu Wenli , Fu Junfen , Zhan Shumin , Luo Feihong , Gong Chunxiu , Wei Liya , Yang Yu , Zhu Min , Ma Huamei , Chen Qiuli , Cheng Xinran , Gou Peng ,

Central precocious puberty (CPP) is one of the most common pediatric endocrine diseases with an ever increasing incidence. CPP is associated with the loss of final adult height, early menarche, psychological problems and an increased risk of developing diseases in later adulthood such as female reproductive system tumors. The gonadotropin-releasing hormone stimulation test (GnRHST) is the gold standard for the diagnosis of CPP. However, the test is costly and time consuming to...

hrp0097p1-361 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

First interim analysis of the value of First Morning Voided(FMV)Urinary GnRH for the Diagnosis in China CPP Patients

Ye Feng , Luo Xiaoping , Dong Guoqing , Chen Ruimin , Dong Zhiya , Lu Wenli , Luo Feihong , Gong Chunxiu , Wei Liya , Yang Yu , Zhu Min , Ma Huamei , Chen Qiuli , Cheng Xinran , Gou Peng

Background: The gold standard for CPP diagnosis is gonadotropin releasing hormone stimulation test (GnRHST). However, this test is expensive, invasive and inconvenient for screening. Some recent studies have demonstrated that the FMV urinary luteinizing hormone (U-LH) has a strong correlation with LH peak value and serum basal LH, and a high consistency with Tanner staging results, but due to the lack of large-sample, multicenter clinical research data, a form...