Prenatal diagnosis of congenital lipoid adrenal hyperplasia (CLAH) by molecular genetic testing in Korean siblings.
Congenital lipoid adrenal hyperplasia (CLAH) is caused by mutations to the steroidogenic acute regulatory protein (StAR) gene associated with the inability to synthesize all adrenal and gonadal steroids. Inadequate treatment in an infant with this condition may result in sudden death from an adrenal crisis. We report a case in which CLAH developed in Korean siblings; the second child was prenatally diagnosed because the first child was affected and low maternal serum estriol was detected in a prenatal screening test. To our knowledge, this is the first prenatal diagnosis of the Q258X StAR mutation, which is the only consistent genetic cluster identified to date in Japanese and Korean populations.
Department of Obstetrics and Gynecology, The Catholic University of Korea, Seoul, Korea.
Hyun Sun
HS
Ko
Seungok
S
Lee
Hyojin
H
Chae
Sae Kyung
SK
Choi
Myungshin
M
Kim
In Yang
IY
Park
Byung Kyu
BK
Suh
Jong Chul
JC
Shin
D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000235:genetics*; D000328:Adult; D044466:Asian People; D058490:Disorder of Sex Development, 46,XY / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007723:Korea; D011296:Prenatal Diagnosis / Q000379:methods*