-
Yonsei medical journal · Nov 2011
Case ReportsPrenatal diagnosis of congenital lipoid adrenal hyperplasia (CLAH) by molecular genetic testing in Korean siblings.
- Hyun Sun Ko, Seungok Lee, Hyojin Chae, Sae Kyung Choi, Myungshin Kim, In Yang Park, Byung Kyu Suh, and Jong Chul Shin.
- Department of Obstetrics and Gynecology, The Catholic University of Korea, Seoul, Korea.
- Yonsei Med. J. 2011 Nov 1; 52 (6): 103510381035-8.
AbstractCongenital 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.
Notes
Knowledge, pearl, summary or comment to share?You can also include formatting, links, images and footnotes in your notes
- Simple formatting can be added to notes, such as
*italics*,_underline_or**bold**. - Superscript can be denoted by
<sup>text</sup>and subscript<sub>text</sub>. - Numbered or bulleted lists can be created using either numbered lines
1. 2. 3., hyphens-or asterisks*. - Links can be included with:
[my link to pubmed](http://pubmed.com) - Images can be included with:
 - For footnotes use
[^1](This is a footnote.)inline. - Or use an inline reference
[^1]to refer to a longer footnote elseweher in the document[^1]: This is a long footnote..