hrp0086fc15.4 | Late Breaking | ESPE2016

Vitamin D-Dependent Rickets Type 1 Caused by Mutations in CYP27B1 Affecting Protein Interactions with Adrenodoxin

Legeza Balazs , Ma Nina , Zalewski Adam , Renthal Nora , Fluck Christa , Pandey Amit

Background: CYP27B1 converts 25-hydroxyvitamin D3 to active 1,25-dihydroxyvitamin D3, playing a vital role in calcium homeostasis and bone growth. Vitamin D-dependent rickets type 1 (VDDR-1) is a rare autosomal recessive disorder caused by mutations in CYP27B1.Objective and hypotheses: Enzymatic and structural analysis of mutations in a patient with calcipenic rickets.Method: Two siblings presented with calcip...

hrp0086p2-p79 | Adrenal P2 | ESPE2016

Three Chinese Patients from Two Kindreds with Aldosterone Synthase Deficiency: Clinical Characteristic with Mutation Analysis Report

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

Aldosterone synthase deficiency (ASD) is a rare autosomal recessive disease caused by inactivating mutation in the CYP11B2 gene, usually presenting with severe salt-wasting in infancy or stress-induced hyperkalaemia and postural hypotension in adulthood. ASD is unable to be detected by Neonatal screening of 17-hydroxyprogesterone, hence patients would not be diagnosed until they suffer from salt-wasting crisis. Due to this potentially life-threatening risk, early detection and...

hrp0086p1-p831 | Syndromes: Mechanisms and Management P1 | ESPE2016

Serum Levels of IL-6, TNF-a, Omentin-1 are Increased in Girls with Turner Syndrome

Chen Hongshan , Xiong Hui , Du Minlian , Li Yanhong , Ma Huamei , Chen Quili , Zhang Jun , Guo Song

Objective: To assess the serum levels of IL-6, TNF-a and Omentin-1 in girls with Turner Syndrome (TS) and to analyze their association with FPG, FINS, TC, TG, HDL-c, LDL-c, and BMISDS.Methods: In total of 33 TS girls aged (12.8±3.9) yr and 33 age-matched normal girls aged (12.6±3.7) yr were recruited in the study. Height (Ht) and Weight (Wt) were measured; FPG, FINS, TC, TG, HDL-c, LDL-c, IGF-1 and E2 were also measured; BMI and BMISDS were cal...

hrp0082p2-d1-568 | Sex Development | ESPE2014

46XY, DSD due to 5α-Reductase Type 2 Deficiency in 19 Chinese Patients

Li Yan-Hong , Du Min-Lian , Ma Hua-Mei , Chen Hong-Shan , Chen Qiu-Li

Background: Patients with 46,XY, DSD are characterized by ambiguous or female external genitalia, caused by incomplete intrauterine masculinization. 5α-reductase type 2 deficiency due to SRD5A2 gene mutations result in inadequate conversion from testosterone to dihydrotestosterone (DHT), and is responsible for incomplete virilization in male patients. Up to date, more than 50 mutations have been reported, however, clinical features are variable and heterogeneous.<p cl...

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-d1-705 | Diabetes | ESPE2014

Glycemic Control of Patients with Type 1 Diabetes Using Automated Bolus Calculator Glucometerr

Rojo Jaime Cruz , Lorenzo Lucia Garzon , del Pozo Jaime Sanchez , Gomez Ma Elena Gallego

Background: In the past years, new glucometers with integrated automated bolus calculator, are available in the market for patients whith type 1 diabetes (DM1) in multiple daily injections (MDI) therapy. The limited bibliography about the use of these meters in the pediatric population with DM1, suggests that it may have beneficial effects in terms of glycaemic control and improved quality of life.Objective and hypotheses: The use of a glucometer with an...

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-d3-913 | Pituitary (1) | ESPE2014

Follow Up for Adult Height of Girl with the Onset of Puberty at 6 or 7 Years Old

Xu Zhuang-Jian , Ma Ya-Ping , Zhao Jin-Ling , Zhang Jian-Mei , Xia Bing-Yang

Background: It is not yet clear whether the adult height (AH) is affected by the onset of puberty at 6 or 7 years old in girl in China.Objective and hypotheses: To evaluate AH in girl with the onset of puberty at 6 or 7 years old.Method: The standard of AH in girl was considered that their bone ages were equal to (or greater than) 15 years old or they were at least 3 years post-menarche. Eighty-two girls with the onset of puberty a...

hrp0082p3-d3-914 | Pituitary (1) | ESPE2014

The Influence of Specimen pH on Urinary LH and FSH by Immunochemiluminometric Assays

Ma Ya-Ping , Xu Zhuang-Jian , Hu Yu , Zhu Wen-Ying , Wang Qing

Background: It remains unclear whether specimen pH can influence urinary LH and FSH assayed by immunochemiluminometric assays (ICMA).Objective and hypotheses: To investigate the effect of specimen pH on urinary LH and FSH assayed by ICMA.Method: The first morning-voided urine were collected and divided into 11 samples (each 100 ml). The urine pH was determined with a pH meter. Hydrochloric acid and sodium hydroxide were added to al...