Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc.
Partial defect in the cholesterol side-chain cleavage enzyme P450scc (CYP11A1) resembling nonclassic congenital lipoid adrenal hyperplasia.
Sahakitrungruang T, Tee MK, Blackett PR, Miller WL.
J Clin Endocrinol Metab. 2011 Mar;96(3):792-8. doi: 10.1210/jc.2010-1828. Epub 2010 Dec 15.
P450 side-chain cleavage deficiency--a rare cause of congenital adrenal hyperplasia.
Hauffa B, Hiort O.
Endocr Dev. 2011;20:54-62. doi: 10.1159/000321215. Epub 2010 Dec 16.
Varied clinical presentations of seven patients with mutations in CYP11A1 encoding the cholesterol side-chain cleavage enzyme, P450scc.
Tee MK, Abramsohn M, Loewenthal N, Harris M, Siwach S, Kaplinsky A, Markus B, Birk O, Sheffield VC, Parvari R, Hershkovitz E, Miller WL.
J Clin Endocrinol Metab. 2013 Feb;98(2):713-20. doi: 10.1210/jc.2012-2828. Epub 2013 Jan 21.
Intramitochondrial cholesterol transfer.
Stocco DM.
Biochim Biophys Acta. 2000 Jun 26;1486(1):184-97. doi: 10.1016/s1388-1981(00)00056-1.
Heterozygous mutation in the cholesterol side chain cleavage enzyme (p450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency.
Tajima T, Fujieda K, Kouda N, Nakae J, Miller WL.
J Clin Endocrinol Metab. 2001 Aug;86(8):3820-5. doi: 10.1210/jcem.86.8.7748.
Study of cholesterol side-chain cleavage (20,22 desmolase) deficiency causing congenital lipoid adrenal hyperplasia using bovine-sequence P450scc oligodeoxyribonucleotide probes.
Matteson KJ, Chung BC, Urdea MS, Miller WL.
Endocrinology. 1986 Apr;118(4):1296-305. doi: 10.1210/endo-118-4-1296.
Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc.
Kim CJ, Lin L, Huang N, Quigley CA, AvRuskin TW, Achermann JC, Miller WL.
J Clin Endocrinol Metab. 2008 Mar;93(3):696-702. doi: 10.1210/jc.2007-2330. Epub 2008 Jan 8.
Role of mitochondria in steroidogenesis.
Papadopoulos V, Miller WL.
Best Pract Res Clin Endocrinol Metab. 2012 Dec;26(6):771-90. doi: 10.1016/j.beem.2012.05.002. Epub 2012 Jun 16.
Sexual dimorphism in a mouse model of Friedreich's ataxia with severe cardiomyopathy.
Salinas L, Montgomery CB, Figueroa F, Thai PN, Chiamvimonvat N, Cortopassi G, Dedkova EN.
Commun Biol. 2024 Oct 3;7(1):1250. doi: 10.1038/s42003-024-06962-4.
MECHANISMS IN ENDOCRINOLOGY: Rare defects in adrenal steroidogenesis.
Miller WL.
Eur J Endocrinol. 2018 Sep;179(3):R125-R141. doi: 10.1530/EJE-18-0279. Epub 2018 Jun 7.
