hrp0095p2-36 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

A Novel Variant of PHEX in a Korean Family with X-linked Hypophosphatemic Rickets

Kim Sejin , Kim Sungsoo , Kim Namhee

X-linked dominant hypophosphatemic rickets (XLH) are the most common form of familial hypophosphatemic rickets resulting from hypophosphatemia caused by renal phosphate wasting, which in turn is a result of loss-of-function mutations in PHEX. Herein, we report a 39-year-old female with short stature and skeletal deformities and 12-month-old asymptomatic daughter. The woman has a history of multiple surgical treatments because of lower limb deformities. Through additional quest...

hrp0098p2-145 | GH and IGFs | ESPE2024

Comparison of growth hormone therapy response according to the presence of growth hormone deficiency in short stature children born small for gestational age in Korea.

Young Jo Ha , Ji Jang Hyun , Kun Cheon Chong , Young Yoon Ju , Yoo Sukdong , Hyun Lee Jung , Eun Lee Jeong , Jin Kim Ye , Kim Sejin , Kim Hyun-Ji , Jeong Choi Im , Jung Kwak Min

Background: This study aim ed to compare the response to growth hormone (GH) therapy according to the presence of GH deficiency (GHD) in short-stature children born small for gestational age (SGA) in Korea and to present appropriate GH dose criteria.Methods: We evaluated 27 children born SGA with short stature and GHD (GHD group) and 23 without GHD (non-GHD group) registered in the LG Growth Study. Growth responses and c...