hrp0095p1-480 | Fat, Metabolism and Obesity | ESPE2022

Clinical symptom and sequence variations in patients with sitosterolemia

Kyung Jung Mo , Rhie Seonkyeong , Kim Mira , Hun Seo Go , Choi Man-ho , Yoo Eun-Gyong

Backgrounds: Sitosterolemia is an inborn error of sterol metabolism caused by pathogenic variation of ABCG5 or ABCG8. It is characterized by increased plant sterol levels, xanthomas, and accelerated atherosclerosis; however, it is likely to be underdiagnosed in the clinical field. This study aims to describe the genetic variance of clinically confirmed patients with sitosterolemia and analyze the clinical spectrum according to genetic variance.<p class="ab...

hrp0095p2-314 | Late Breaking | ESPE2022

A case of permanent congenital hypothyroidism with NKX2-1 mutation and optic nerve thickness

Yang Jaejin , Yeong Chung Woo , Hwan Oh Seung , Hun Seo Go , Rye Kim Jeong , Yu eesuk

Congenital hypothyroidism can be caused by the wrong formation of the thyroid gland or the defect in the synthesis of thyroid hormone. Among the candidate genes, defect in the gene NKX2-1 can be presented as thyroid, lung, or brain dysfunction. An eight-year-old boy was diagnosed as congenital hypothyroidism at the age of 16 days. He was referred to our Pediatric Endocrinology Clinic due to elevated TSH level (36.28uIU/mL). Serum total T3 and free T4 were 125 ng/dL an...

hrp0097rfc8.1 | Fat, metabolism and obesity 2 | ESPE2023

A novel heterozygous likely pathogenic variant in GNB1 causing hyperphagia, severe early onset obesity and neurodevelopmental disorder

Karantza Maria , Hun Seo Go , Hyun Seong-In , Lee Hane , Kitsiou Sophia , Michala Lina , Kostopoulou Eirini

The proband is a 12 yr old Caucasian European girl with grade 3 obesity, developmental delay and hyperphagia. She was born at term via an uncomplicated pregnancy and exhibited neonatal hypotonia, difficulty feeding, failure to thrive and delayed attenuation of milestones. At the age of 2 years she started developing hyperphagia and rapid excessive weight gain. Molecular analysis for Prader Willi syndrome and array CGH were negative. At the age of 10 yrs she was diagnosed with ...

hrp0089p2-p366 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Genetic Etiologies and Gender Outcomes of Patients with Disorders of Sex Development Presenting with Asymmetric Gonads

Oh Arum , Kim Yoon-Myung , Hun Seo Go , Kim Gu-Hwan , Choi Jin-Ho , Yoo Han-Wook

Purpose: Patients with mixed gonadal dysgenesis (MGD) and ovotesticular disorders of sex development (DSD) usually present with asymmetric gonads. Differential diagnosis of these conditions is based on karyotype and pathological findings of gonads. However, it is difficult to determine sex of rearing and to predict long-term outcomes. This study investigated the clinical features, karyotype, sex of rearing, and pubertal outcomes of patients with MGD and ovotesticular DSD.<...

hrp0097p2-158 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

A case of male pseudoermaphroditism (46,XY DSD) in an adolescent with a novel de novo NR5A1 gene variant.

Kostopoulou Eirini , Samkinidou Efstratia , Sertedaki Amalia , Efthymiadou Alexandra , Giannakopoulos Aristeidis , Hyun Seong-In , Lee Hane , Hun Seo Go , Chrysis Dionisios

Introduction-Purpose: In addition to chromosomal abnormalities, a number of genes have been implicated as causes of Disorders of Sexual Development (DSD). The NR5A1 (SF-1) gene expresses a transcription factor that plays a role in steroidogenesis by controlling multiple stages of adrenal and gonadal development, and its mutations have been reported in cases of DSD.Case presentation: A 152/12-year-old teenager ...