hrp0086p1-p127 | Bone & Mineral Metabolism P1 | ESPE2016

Transient Pseudohypoaldosteronism and Failiure to Thrive in A 5-Month-Old Infant

Soon Kim Hae , Lee Yoonsuk , Won Lee Jung , Jin Cho Su

Hyponatremia with hyperkalemia in infancy may be seen in many endocrinologic and metabolic disorder such as congenital adrenal hyperplasia, congenital adrenal hypoplasia, and other forms of hypoadrenalism in infancy. Here, we report a infants who presented with hyponatremia with hyperkalemia finally diagnosed as pseudohypoaldosteronism (PHA) due to urinary tract infection (UTI) with reflux nephropahy. A 5-month-old female initially was transferred for poor weight gain for 2 mo...

hrp0082p2-d2-577 | Sex Development (1) | ESPE2014

A Novel Cyp19a1 Gene Mutation Identified in Three Turkish Families

Akcurin Sema , Durmaz Erdem , Kim Woo-Young , Turkkahraman Doga , Shin Joe-Gook , Lee Su-Jun

The CYP19A1 gene product cP450aromatase enzyme is responsible for estrogen synthesis and androgen/estrogen equilibrium in many tissues; placenta and gonads are being the leading tissues. cP450aromatase deficiency has important effects on clinical phenotype due to excessive amount of androgen accumulation and insufficient estrogen synthesis in the pre- and postnatal periods. We identified a new point mutation in the CYP19A1 gene causing aromatase deficiency in three Turkish fam...

hrp0082p3-d2-639 | Adrenals & 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 ...

hrp0084p3-1050 | Growth | ESPE2015

BMI and Total Cholesterol are Negative Predictors of Peak Stimulated GH in Han Children with Short Stature

Wu Su , Gu Wei , Zhu Ziyang , Ni Shining , Shi Xing , Liu Qianqi

Background: BMI has a negative impact on spontaneous and stimulated GH secretion in children, but the impact of BMI and free fatty acids (FFA) on peak stimulated GH values in Han children with short stature is unknown.Objective and hypotheses: To assess the effects of BMI and FFA on peak GH values in Han children with short stature.Method: This was a retrospective, cross-sectional study. We used arginine–clonidine test to anal...

hrp0084p3-1054 | Growth | ESPE2015

To Investigate the Changes of Hormone Levels and Body Composition in Pubertal Children with Growth Retardation: a Clinical Controlled Study

Wu Su , Liu Qian-qi , Gu Wei , Zhu Zi-yang , Shi Xing , Ni Shi-ning

Background: Adolescent growth spurt is the fast and intense increase in the rate of growth in height and weight that occurs during the adolescent stage of the human life cycle.Objective and hypotheses: To investigate the changes of hormone levels and body composition in pubertal children with growth retardation.Method: A non-randomised clinical controlled study was conducted in 208 cases (males 122, 10–14 years and females 86,...

hrp0084p3-1106 | Pituitary | ESPE2015

Acquired Long QT Syndrome in a 14-year-old Boy with Panhypopituitarism

Kim Yoo-Mi , Seo Jung-Ho , Cheon Chong Kun , Yim Young-Tak , Kim Su Young

Background: Acquired QT prolongation can be caused by electrolyte abnormality, myocarditis, cerebrovascular disease, drug intoxication and hormonal disorders such as hypopituitarism, hypothyroidism, and adrenal insufficiency.Case presentation: We describe a 14-year-old boy with hypopituitarism after trans-sphenoidal surgery (TSS) due to suprasellar mass who manifested bradycardia and QT prolongation on electrocardiogram. This subject complained of blurre...

hrp0084p3-1246 | Turner | ESPE2015

Turner Syndrome with Breast Development: Case Report

Park Sung Won , Cho Sung Yoon , Kim Jinsup , Huh Rimm , Kim Su Jin , Jin Dong-kyu

Introduction: Turner syndrome (TS) is caused by monosomy or structural abnormalities of the X chromosome, with a prevalence of out 1/2500 females live birth. Most important clinical features of TS are short stature and gonadal failure. Approximately one third of girls with TS may undergo spontaneous puberty. Here we report a case of a variant TS with breast development.Case report: A 9-year-old girl was referred to our paediatric endocrinology outpatient...