hrp0097p1-380 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

A novel mutation of androgen receptor in a patient with complete androgen insensitivity syndrome

Jong Kim Chan , Hwan Chang Seong

Androgen insensitivity syndrome (AIS) is a rare genetic disease caused by mutation in the androgen receptor (AR). The AR is an essential steroid hormone receptor that plays a crucial role in male sexual differentiation and development. Mutations in the AR gene on the X chromosome cause malfunction of the AR so that a 46,XY karyotype male shows some physical characteristics of a woman or a full female phenotype. Depending on the phenotype, AIS can be classified as complete, par...

hrp0098p3-131 | GH and IGFs | ESPE2024

Comparison of Growth Hormone Stimulation Tests in Prepubertal Children with Short Stature According to Response of Growth Hormone Replacement

Hwan Chang Seong , Jong Kim Chan

Introduction: Growth hormone (GH) stimulation tests are essential tools for diagnosing growth hormone deficiency (GHD) as a serum peak GH level less than 10 µg/L on two separate tests. We aim ed to compare L-dopa, insulin, and arginine-induced stimulation tests based on the response to GH replacement.Methods: We retrospectively collected data from a review of patients who underwent the GH stimulation test. A total ...