title: Congenital lipoid adrenal hyperplasia.
abstract: Congenital lipoid adrenal hyperplasia (lipoid CAH) is the most fatal form of CAH, as it disrupts adrenal and gonadal steroidogenesis. Most cases of lipoid CAH are caused by recessive mutations in the gene encoding steroidogenic acute regulatory protein (StAR). Affected patients typically present with signs of severe adrenal failure in early infancy and 46,XY genetic males are phenotypic females due to disrupted testicular androgen secretion. The StAR p.Q258X mutation accounts for about 70% of affected alleles in most patients of Japanese and Korean ancestry. However, it is more prevalent (92.3%) in the Korean population. Recently, some patients have been showed that they had late and mild clinical findings. These cases and studies constitute a new entity of 'nonclassic lipoid CAH'. The cholesterol side-chain cleavage enzyme, P450scc (CYP11A1), plays an essential role converting cholesterol to pregnenolone. Although progesterone production from the fetally derived placenta is necessary to maintain a pregnancy to term, some patients with P450scc mutations have recently been reported. P450scc mutations can also cause lipoid CAH and establish a recently recognized human endocrine disorder.
authors: Department of Pediatrics, Chonnam National University Hospital, Chonnam National University Medical School, Gwangju, Korea.
authors: Chan Jong
authors: CJ
authors: Kim
keywords: Cholesterol side-chain cleavage enzyme; Lipoid congenital adrenal hyperplasia; Steroidogenic acute regulatory protein
references: Am J Obstet Gynecol. 1973 Mar 15;115(6):759-65
references: 4688578
references: J Pediatr. 2013 Apr;162(4):819-22
references: 23158025
references: J Clin Invest. 1991 Dec;88(6):1955-62
references: 1661294
references: Clin Chim Acta. 1977 Jun 15;77(3):301-6
references: 872430
references: J Clin Endocrinol Metab. 1986 Nov;63(5):1145-50
references: 3489728
references: Mol Genet Metab. 2001 Aug;73(4):354-7
references: 11509019
references: J Clin Endocrinol Metab. 1999 Nov;84(11):3983-7
references: 10566637
references: J Clin Endocrinol Metab. 2001 Aug;86(8):3820-5
references: 11502818
references: Proc Natl Acad Sci U S A. 1994 Jul 19;91(15):7247-51
references: 8041774
references: J Clin Invest. 1997 Mar 15;99(6):1265-71
references: 9077535
references: Helv Paediatr Acta. 1955 Aug;10(4):397-412
references: 13285832
references: J Clin Endocrinol Metab. 2005 Sep;90(9):5304-8
references: 15985476
references: J Clin Endocrinol Metab. 2008 Mar;93(3):696-702
references: 18182448
references: J Clin Endocrinol Metab. 2002 Aug;87(8):3808-13
references: 12161514
references: Clin Endocrinol (Oxf). 1985 Nov;23(5):481-93
references: 3841304
references: J Clin Endocrinol Metab. 2006 Dec;91(12):4781-5
references: 16968793
references: J Biochem. 1987 Apr;101(4):879-87
references: 3038854
references: J Clin Endocrinol Metab. 2005 Jan;90(1):538-41
references: 15507506
references: N Engl J Med. 1996 Dec 19;335(25):1870-8
references: 8948562
references: J Clin Endocrinol Metab. 2005 Feb;90(2):835-40
references: 15546900
references: J Clin Endocrinol Metab. 2000 Oct;85(10):3636-9
references: 11061515
references: Science. 1995 Mar 24;267(5205):1828-31
references: 7892608
references: Eur J Endocrinol. 2011 Nov;165(5):771-8
references: 21846663
references: J Clin Endocrinol Metab. 2006 Aug;91(8):2821-6
references: 16705068
references: J Clin Endocrinol Metab. 1997 May;82(5):1511-5
references: 9141542
references: Hum Mol Genet. 1995 Dec;4(12):2299-305
references: 8634702
references: Mol Cell Endocrinol. 2002 Dec 30;198(1-2):7-14
references: 12573809
references: Hum Mol Genet. 1997 Apr;6(4):571-6
references: 9097960
references: J Pediatr Endocrinol Metab. 1998 Nov-Dec;11(6):707-11
references: 9829224
references: J Clin Endocrinol Metab. 1994 Jan;78(1):36-40
references: 8288710
references: DNA. 1988 Nov;7(9):609-15
references: 3229285
references: Acta Endocrinol (Copenh). 1972 Nov;71(3):512-8
references: 4678198
references: J Mol Endocrinol. 1997 Dec;19(3):227-40
references: 9460644
references: Endocr Rev. 1996 Jun;17(3):221-44
references: 8771357
references: J Pediatr. 2004 Aug;145(2):178-83
references: 15289763
references: J Clin Endocrinol Metab. 1998 Apr;83(4):1399-400
references: 9543177
references: Endocrinology. 1986 Apr;118(4):1296-305
references: 2419119