hrp0089p2-p405 | Thyroid P2 | ESPE2018

Predictors of Permanent Congenital Hypothyroidism in Children

Yoon Ju Young

Background: Congenital hypothyroidism (CH) is one of most common endocrine disease in childhood. If unteated, it is one of the leading causes of childhood intellectual disability. CH can be permanent, or can be transient in which thyroid function is spontaneously recovered. It is also known that among children with congenital hypothyroidism, the proportion of transient cases is higher in preterm than in full term babies. But there are few, if any, large studies which evaluated...

hrp0092p1-62 | Fat, Metabolism and Obesity | ESPE2019

Short-term Treatment of Liraglutide in Patient with Prader-Willi Syndrome

Cheon Chong Kun , Yoon Ju Young , Choi Im Jeong , Kim Hyun-Ji

Background: Prader-Willi syndrome (PWS) is a genetic disorder associated with developmental delay, obesity, and obsessive behavior related to food consumption. Treatment options for weight control in those patients is limited and there are controversies for a surgical approach. Saxenda® (liraglutide) injection 3 mg is indicated as an adjunct to a reduced-calorie diet and increased physical activity for chronic weight management in adult patients with obes...

hrp0092p1-385 | Growth and Syndromes (to include Turner Syndrome) (2) | ESPE2019

Saliva Might be a Good Alternative DNA Source for Whole Exome Sequencing to Identify Genetic Causes of Short Stature

Cheon Chong Kun , Yoon Ju Young , Choi Im Jeong , Kim Hyun-Ji

Background: Genetics plays a strong role in height. However, for most patients, no cause for the short stature can identified. Whole-exome sequencing (WES) is becoming an increasingly important tool for detecting novel genetic causes of short stature. Blood is the preferred DNA source for germline studies using WES. However, DNA from saliva is a more convenient and cost-effective alternative.Objectives: We aim to identif...

hrp0092p3-13 | Adrenals and HPA Axis | ESPE2019

Genotype and Phenotype, Growth Outcome in 33 Korean Patients with 21-Hydroxylase Deficiency

Yoon Ju Young , Choi Im Jeong , Kim Hyun-Ji , Cheon Chong Kun

Purpose: This study aimed to describe gene mutations and growth outcome in patients with 21-hydroxylase deficiencyMethods: Subjects were diagnosed as 21-hydroxylase deficiency by direct Sanger sequencing or multiple ligation-dependent probe amplification analysis and visited Pusan National University Children's Hospital from July 2008 to April 2019.We investigated the genotype, phenotype and growth profiles.<p cl...

hrp0084p2-436 | Gonads | ESPE2015

Gonadal and Sexual Dysfunction in Childhood Cancer Survivors

Yoon Ju Young , Park Hyeon Jin , Chung Jin Soo , Hwang Sang Hyun , Lee Dong Ock , Shim Hye Young , Park Byung Kiu

Background: Gonadal or sexual dysfunctions are common and important complications of childhood cancer survivors. But few studies have been conducted on these areas, and if any, they are only about gonadal dysfunctions. Semen quality or sexual functions were rarely investigated.Objective and hypotheses: We purposed to evaluate prevalence of gonadal failure, semen abnormality, and sexual dysfunction of adolescent/young adult childhood cancer survivors. Ris...