hrp0084p3-994 | Gonads | ESPE2015

Homozygous CYP17A1 Mutation Identified in a Chinese Family with 46, XX and 46, XY 17α-Hydroxylase Deficiency

Ma Huamei , Du Minlian , Zhang Jun , Li Yanhong , Chen Qiuli , Chen Hongshan

Background: Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency is a rare autosomal recessive disorder, characterized by sexual infantilism, amenorrhoea, hypertension and hypokalemia,which is caused by CYP17A1 gene mutations.Objective and hypotheses: To provide a descriptive analysis of 17α-hydroxylase deficiency in two female siblings with different karyotype of 46, XX and 46, XY.Method: The clinical feature...

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...

hrp0095p1-123 | Growth and Syndromes | ESPE2022

Single center analysis of the characteristics of 24-hour ambulatory blood pressure and related factors in patients with Turner syndrome

Zheng Rujiang , Chen Hongshan , Huang Huiling , Ma Huamei , Li Yanhong , Chen Qiuli , Zhang Jun , Guo Song , Wang Bing , Du Minlian

Background and Objectives: In the patients with Turner syndrome (TS), the risk of hypertension is higher in childhood and adulthood. The aim of the study was to retrospectively analyze 24-hour ambulatory blood pressure monitoring (ABPM) in children and adolescents with TS and its related factors.Materials and Methods: A retrospective study was conducted involving TS patients admitted to our pediatric endocrine specialist...

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 ...

hrp0082p3-d2-639 | Adrenals &amp; HP Axis (1) | ESPE2014

Four Cases of Ovarian Adrenal Rest Tumors in Chinese Girls with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Zhe Su , Jun Zhang , Huamei Ma , Qiuli Chen , Minlian Du , Yanhong Li , Hongshan Chen

Background: Ovarian adrenal rest tumors (OART) is a rare complication of congenital adrenal hyperplasia (CAH) and is not very well characterized yet.Objective and hypotheses: We report four cases of OART in Chinese girls with CAH due to 21-hydroxylase deficiency (21 OHD).Method: We describe the clinical, imaging, and surgical findings of the patients.Results: The four cases of CAH with OART included three sal...

hrp0082p3-d2-715 | Diabetes (1) | ESPE2014

Insulin Pump Therapy in One Case of 6q24 Transient Neonatal Diabetes for 3 Years

Wangkai Liu , Xiaoyu Li , Yihua Su , Siqi Zhuang , Yijuan Li , Huamei Ma , Minlian Du , Weiqi Chen

Background: Management of transient neonatal diabetes mellitus is complex. Conventional insulin therapy may be increase additional medical problems. From the case is presented, We suggested s.c. insulin pump therapy of neonatal diabetes is a safe and effective approach to management.Objective and hypotheses: To evaluate the therapeutic effect of continuous s.c. insulin infusion with insulin pump in a case with transient neonatal diabetes mellitus (TNDM)....

hrp0082p3-d3-803 | Gonads and Gynaecology | ESPE2014

Menstrual Regularity Among Early Menarche Girls and CPP or EFP Girls Treated with GnRHa

Qiuli Chen , Yanhong Li , Zhe Su , Huamei Ma , Hongshan Chen , Jun Zhang , Minlian Du

Objective: We assessed in a retrospective unicenter study the effect on menstrual regularity of early menarche and treatment with GnRH analogs (GnRHa) in central precocious puberty (CPP) or early and fast puberty (EFP) girls.Methods: Six hundred and ten healthy girls were interviewed and their menarche age and menstrual interval were recorded. One hundred and sixty-nine CPP or EFP girls who were treated with GnRHa were fellowed up, and their menarche age...

hrp0082p3-d1-933 | Puberty and Neuroendocrinology | ESPE2014

Effect on BMI of GnRH Analogue Treatment in Central Precocious Puberty or Early and Fast Puberty Girls

Qiuli Chen , Zhe Su , Yanhong Li , Huamei Ma , Hongshan Chen , Jun Zhang , Minlian Du

Objective: We assessed in a retrospective unicenter study the effect on BMI of treatment with GnRH analogs (GnRHa) in central precocious puberty (CPP) or early and fast puberty (EFP) girls.Methods: The BMI of 318 girls (227 CPP and 91 EFP) who treated with GnRHa alone were analyzed. Among them 89 were followed up to their final adult hight (FAH).Results: Before GnRHa treatment started, the girls with CPP and EFP had a mean BMI SDS ...

hrp0084p2-177 | Adrenals | ESPE2015

Analysis the Relationship between Clinical Characteristics and Genotype of Six Cases of Bartter Syndrome and Gitelman Syndrome in Children

Jun Zhang , Qiuli Chen , Song Guo , Ping Yang , Huamei Ma , Yanhong Li , Minlian Du

Background: In developing countries, due to the lack of medical resources, it is necessary to do the preliminary diagnosis of Bartter syndrome and Gitelman syndrome according to the existing clinical data rather than the genetic testing. Is clinical diagnosis consistent with the gene diagnosis?Objective and hypotheses: To summarise the children’s clinical features, furosemide/hydrochlorothiazide loading test and genotype of Bartter syndrome and Gite...

hrp0084p2-297 | Diabetes | ESPE2015

GH Promotes mRNA Expression and Secretion of Progranulin in 3T3-L1 Cells

Song Guo , Hongshan Chen , Jun Zhang , Minlian Du , Huamei Ma , Yanhong Li , Qiuli Chen , Yangshui Peng

Background: Recently, progranulin (PGRN) was a novel adipokine which is a key adipokine insulin resistance in adipose tissue. While GH was closely related to glucose metabolism and insulin resistance.Objective and hypotheses: We suspected that there maybe some positive relationship between GH and PGRN. Our study was to detect expression and regulation of PGRN in mouse 3T3-L1 cells follow the treatment with GH.Method: The mRNA was m...