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Items: 1 to 20 of 93

1.

Homozygous mutation of P450 side-chain cleavage enzyme gene (CYP11A1) in 46, XY patient with adrenal insufficiency, complete sex reversal, and agenesis of corpus callosum.

al Kandari H, Katsumata N, Alexander S, Rasoul MA.

J Clin Endocrinol Metab. 2006 Aug;91(8):2821-6. Epub 2006 May 16.

PMID:
16705068
2.

A novel homozygous mutation in CYP11A1 gene is associated with late-onset adrenal insufficiency and hypospadias in a 46,XY patient.

Rubtsov P, Karmanov M, Sverdlova P, Spirin P, Tiulpakov A.

J Clin Endocrinol Metab. 2009 Mar;94(3):936-9. doi: 10.1210/jc.2008-1118. Epub 2008 Dec 30.

PMID:
19116240
3.

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.

PMID:
11502818
4.

Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure.

Hiort O, Holterhus PM, Werner R, Marschke C, Hoppe U, Partsch CJ, Riepe FG, Achermann JC, Struve D.

J Clin Endocrinol Metab. 2005 Jan;90(1):538-41. Epub 2004 Oct 26.

PMID:
15507506
5.

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. Erratum in: J Clin Endocrinol Metab. 2013 Oct;98(10):4213. Pavari, Ruti [corrected to Parvari, Ruti].

6.

Delayed diagnosis of adrenal insufficiency in a patient with severe penoscrotal hypospadias due to two novel P450 side-change cleavage enzyme (CYP11A1) mutations (p.R360W; p.R405X).

Parajes S, Chan AO, But WM, Rose IT, Taylor AE, Dhir V, Arlt W, Krone N.

Eur J Endocrinol. 2012 Dec;167(6):881-5. doi: 10.1530/EJE-12-0450. Epub 2012 Sep 11.

7.

Compound heterozygous mutations in the cholesterol side-chain cleavage enzyme gene (CYP11A) cause congenital adrenal insufficiency in humans.

Katsumata N, Ohtake M, Hojo T, Ogawa E, Hara T, Sato N, Tanaka T.

J Clin Endocrinol Metab. 2002 Aug;87(8):3808-13.

PMID:
12161514
8.

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.

9.

A novel entity of clinically isolated adrenal insufficiency caused by a partially inactivating mutation of the gene encoding for P450 side chain cleavage enzyme (CYP11A1).

Parajes S, Kamrath C, Rose IT, Taylor AE, Mooij CF, Dhir V, Grötzinger J, Arlt W, Krone N.

J Clin Endocrinol Metab. 2011 Nov;96(11):E1798-806. doi: 10.1210/jc.2011-1277. Epub 2011 Aug 31.

PMID:
21880796
10.

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.

11.

Congenital lipoid adrenal hyperplasia: functional characterization of three novel mutations in the STAR gene.

Bens S, Mohn A, Yüksel B, Kulle AE, Michalek M, Chiarelli F, Nuri Ozbek M, Leuschner I, Grötzinger J, Holterhus PM, Riepe FG.

J Clin Endocrinol Metab. 2010 Mar;95(3):1301-8. doi: 10.1210/jc.2009-1176. Epub 2010 Jan 15.

PMID:
20080861
12.

The novel mutation p.Trp147Arg of the steroidogenic acute regulatory protein causes classic lipoid congenital adrenal hyperplasia with adrenal insufficiency and 46,XY disorder of sex development.

Yüksel B, Kulle AE, Gürbüz F, Welzel M, Kotan D, Mengen E, Holterhus PM, Topaloğlu AK, Grötzinger J, Riepe FG.

Horm Res Paediatr. 2013;80(3):163-9. doi: 10.1159/000354086. Epub 2013 Aug 1.

PMID:
23920000
13.

Nonsalt-losing male pseudohermaphroditism due to the novel homozygous N100S mutation in the type II 3 beta-hydroxysteroid dehydrogenase gene.

Mébarki F, Sanchez R, Rhéaume E, Laflamme N, Simard J, Forest MG, Bey-Omar F, David M, Labrie F, Morel Y.

J Clin Endocrinol Metab. 1995 Jul;80(7):2127-34.

PMID:
7608265
14.

Distinguishing deficiencies in the steroidogenic acute regulatory protein and the cholesterol side chain cleavage enzyme causing neonatal adrenal failure.

Gucev ZS, Tee MK, Chitayat D, Wherrett DK, Miller WL.

J Pediatr. 2013 Apr;162(4):819-22. doi: 10.1016/j.jpeds.2012.10.012. Epub 2012 Nov 15.

PMID:
23158025
15.

STAR splicing mutations cause the severe phenotype of lipoid congenital adrenal hyperplasia: insights from a novel splice mutation and review of reported cases.

Camats N, Pandey AV, Fernández-Cancio M, Fernández JM, Ortega AM, Udhane S, Andaluz P, Audí L, Flück CE.

Clin Endocrinol (Oxf). 2014 Feb;80(2):191-9. doi: 10.1111/cen.12293. Epub 2013 Aug 17. Review.

PMID:
23859637
16.

Epidermal growth factor and c-Jun act via a common DNA regulatory element to stimulate transcription of the ovine P-450 cholesterol side chain cleavage (CYP11A1) promoter.

Pestell RG, Albanese C, Watanabe G, Johnson J, Eklund N, Lastowiecki P, Jameson JL.

J Biol Chem. 1995 Aug 4;270(31):18301-8.

17.

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. Review.

PMID:
21164259
18.
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20.

Genetic defects in pregnenolone synthesis.

Katsumata N.

Pediatr Endocrinol Rev. 2012 Oct;10 Suppl 1:98-109. Review.

PMID:
23330251

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