hrp0086p2-p420 | Gonads & DSD P2 | ESPE2016

Congenital Adrenal Lipoid Hyperplasia in a 30-Year-Old Female with a Tall Stature

Wada Yasunori , Miyoshi Tatsuya , Hasegawa Yukihiro , Chida Shoichi

Background: Congenital lipoid adrenal hyperplasia is an autosomal recessive adrenal and gonadal steroidogenesis disorder usually caused by a genetic abnormality in the STAR gene encoding the steroidogenic acute regulatory protein (StAR). For 46,XY cases, sex steroid hormone replacement therapy must be initiated together with glucocorticoid and mineralocorticoid treatment.Objective and hypotheses: We present the case of a 30-year-old female with ...