hrp0095p2-233 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Central precocious puberty in a girl with vasculitis-related moyamoya syndrome

Xie Dandan , Chen Qiuli , Ma Huamei , Jiang Bo , Li Yanhong , Zhang Jun , Guo Song , Zheng Rujiang , Chen Zhixin

Object: To raise the awareness of clinical manifestations about vasculitis-related moyamoya syndrome by summarizing the clinical characteristics of a girl with central precocious puberty, vasculitis-related moyamoya syndrome and reviewing the literature. Method: We carried on the review analysis to the patient with central precocious puberty, vasculitis-related moyamoya syndrome and reviewed the literature. Result: The bilateral breast development was the prim...

hrp0092p3-241 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

46XY, DSD with Hemolytic Uremic Syndrome as the Primary Manifestation——Denys–Drash Syndrome Caused by WT1 Gene Mutation

zhang jun , guo song , chen qiuli , ma huamei , li yanhong , chen hongshan , du minlian , cheng cheng , ye minyi

Objective: To summarize the diagnosis and treatment of a rare 46XY DSD cause: Denys-Drash syndrome.Methods: To summarize the clinical manifestations, laboratory tests, diagnosis and treatment of a rare 46XY DSD cause presenting with hemolytic uremic syndrome: Denys-Drash syndrome (WT1 mutation).Results: Female, 2 years and 4 months, were admitted to the hospital at 2018-11-7 becaus...

hrp0095p2-191 | Growth and Syndromes | ESPE2022

A case report of gonadal Y-chromosome mosaicism 45, X Turner syndrome complicated by HCG-secreting gonadoblastoma

Zheng Rujiang , Ma Huamei , Liu Juncheng , Chen Huadong , Liang Jianbo , Chen Hongshan , Li Yanhong , Chen Qiuli , Zhang Jun , Guo Song , Wang Bing , Du Minlian

Objective: We report a case of a 5y3m patient who complained of breast development with "45, X Turner syndrome (TS) and HCG-secreting gonadoblastoma (Gb)" with Y chromosome mosaicism. Aim to understand the diagnosis of TS and improve the diagnosis and treatment of HCG-secreting tumors.Methods: The data of clinical diagnosis and treatment of this patient were summarized, and the literatures were reviewed.<p ...

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...

hrp0086p2-p434 | Gonads &amp; DSD P2 | ESPE2016

Diagnosis, Treatment and Gene Mutation Analysis of the Case with Steroid 5α-Reductase Type 2 Deficiency

Ma Xinyu

Background: To explore the reason of children on the 46,XY DSD.Objective and hypotheses: To analyze the clinical characteristics, diagnosis and management of a case with steroid 5α-reductase type 2 deficiency (SRD5A2) and perform related gene mutation analysis with a view to raising awareness of this disease.Method: A 2 year old 5 months child came with abnomal vulval shape. Karyotype was analyzed by chromosome cultivation. Gn...

hrp0089p3-p108 | Diabetes &amp; Insulin P3 | ESPE2018

Psychosocial Risks, Comorbidities and Health Events During the Follow-up of Children and Adolescents with Type 1 Diabetes

Temboury Ma Carmen , Villamor Raquel , Hernandez Ma Belen , Lapena Sara , Lopez Cristina

Background: Psychosocial factors and health events are important for patients with chronic diseases such type 1 diabetes (TD1).Objective and hypotheses: The aim was to explore the psychosocial factors, health events and comorbidity found at diagnosis and during the follow up of children and adolescents with type 1 diabetes. Also to analyze the association between socioeconomic status and glycaemic control.Method: Medical charts of ...

hrp0086p2-p287 | Diabetes P2 | ESPE2016

Diabetic Ketoacidosis Risk Factors in the Initial Presentation of Type 1 Diabetes Mellitus in Children and Adolescents

Silva Silvia , Ferreira Lia , Aires Sofia , Freitas Joana , Oliveira Ma Joao , Cardoso Ma Helena , Borges Teresa

Background: Diabetic ketoacidosis (DKA) is the most serious acute complication of type 1 Diabetes mellitus (T1DM). It is important to know the factors associated with the development of DKA and elaborate preventive strategies to reduce their prevalence.Objective and hypotheses: To identify DKA predictive risk factors in the initial presentation of T1DM in children and adolescents.Method: We conducted a retrospective study, by analy...

hrp0089p2-p151 | Fat, Metabolism and Obesity P2 | ESPE2018

The Age of Pubertal Onset Correlates with Pubertal Growth Pattern and Body Weight Change in Girls

Li Yan-Hong , Du Min-Lian , Ma Hua-Mei

Background: Precocious puberty in girls may result in loss of FAH, and particularly may relates to obesity when entering adulthood. However,The influence of the timing of pubertal onset on the FAH and the change of body weight during pubertal stages is still controversial.Objective: The research is to investigate the pubertal growth pattern and the change of BMI levels in girls with ICPP and those who have normal onset of puberty but at different ages.</...

hrp0089p2-p202 | Fetal, Neonatal Endocrinology and Metabolism P2 | ESPE2018

Serum Vaspin Concentration in Full-term, Appropriate-for-Gestational-Age Newborns: Effect of Early-Onset Infections

Stojewska Małgorzata , Wiśniewska-Ulfik Dominika

Objective: Vaspin plays an important role in the foetal and postnatal development of children. The effect of early-onset infection in neonates on vaspin levels is not well known.The aim of the study: 1) evaluation of serum vaspin concentrations in full-term appropriate-for-gestational-age (AGA) newborns, according to their gender, birth asphyxia, type of delivery, occurrence of early-onset infections; 2) analysis of correlations between serum vaspin conc...