Partial defect in the cholesterol side-chain cleavage enzyme P450scc (CYP11A1) resembling nonclassic congenital lipoid adrenal hyperplasia

Journal of Clinical Endocrinology and Metabolism

Volumn 96, Issue 3, 2011, Pages 792-798

  Sahakitrungruang, Taninee ^a   Tee, Meng Kian ^a   Blackett, Piers R ^b   Miller, Walter L ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF OKLAHOMA COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL MONOOXYGENASE (SIDE CHAIN CLEAVING); FLUDROCORTISONE; HYDROCORTISONE; PREGNENOLONE; PROGESTERONE; STEROIDOGENIC ACUTE REGULATORY PROTEIN; TESTOSTERONE CIPIONATE; TETRACOSACTIDE;

ADDISON DISEASE; ADRENAL INSUFFICIENCY; ARTICLE; CASE REPORT; CHILD; CHOLESTEROL SIDE CHAIN CLEAVAGE; CONGENITAL ADRENAL HYPERPLASIA; CORTICOTROPIN TEST; CRYPTORCHISM; DISEASE SEVERITY; DRUG DOSE INCREASE; ENZYME ACTIVITY; FEMALE; GENE MUTATION; GENITAL MALFORMATION; HETEROZYGOSITY; HORMONE SYNTHESIS; HUMAN; HYPERPIGMENTATION; HYPOGONADISM; KARYOTYPE 46,XX; KARYOTYPE 46,XY; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PENIS; PHENOTYPE; PLASMA RENIN ACTIVITY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN CLEAVAGE; PROTEIN FUNCTION; SCHOOL CHILD; STEROIDOGENESIS; VIRUS INFECTION;

ADRENAL HYPERPLASIA, CONGENITAL; AMINO ACID SEQUENCE; ANIMALS; ANTI-INFLAMMATORY AGENTS; CELL LINE; CERCOPITHECUS AETHIOPS; CHILD; CHILD, PRESCHOOL; CHOLESTEROL SIDE-CHAIN CLEAVAGE ENZYME; COS CELLS; CRYPTORCHIDISM; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; FRAMESHIFT MUTATION; GENETIC VECTORS; GONADAL DYSGENESIS, 46,XX; GONADAL DYSGENESIS, 46,XY; HUMANS; HYDROCORTISONE; KINETICS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE;

EID: 79952297375     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2010-1828     Document Type: Article

References (42)

1. Chung BC, Matteson KJ, Voutilainen R, Mohandas TK, Miller WL 1986 Human cholesterol side-chain cleavage enzyme, P450scc: cDNA cloning, assignment of the gene to chromosome 15, and expression in the placenta. Proc Natl Acad Sci USA 83:8962-8966 (Pubitemid 17223521)
2. Morohashi K, Sogawa K, Omura T, Fujii-Kuriyama Y 1987 Gene structure of human cytochrome P-450(SCC), cholesterol desmolase. J Biochem 101:879-887
3. Sparkes RS, Klisak I, Miller WL 1991 Regional mapping of genes encoding human steroidogenic enzymes: P450scc to 15q23-q24, adrenodoxin to 11q22; adrenodoxin reductase to 17q24-q25; and P450c17 to 10q24-q25. DNA Cell Biol 10:359-365
4. Miller WL 2005 Minireview: regulation of steroidogenesis by electron transfer. Endocrinology 146:2544-2550 (Pubitemid 40695556)
5. Miller WL 1997 Congenital lipoid adrenal hyperplasia: the human gene knockout for the steroidogenic acute regulatory protein. J Mol Endocrinol 19:227-240 (Pubitemid 28023158)
6. Sandison AT 1955 A form of lipoidosis of the adrenal cortex in an infant. Arch Dis Child 30:538-541
7. Prader A, Gurtner HP 1955 Das Syndrom des Pseudohermaphroditismus masculinus bei kongenitaler Nebennierenrindenhyperplasie ohne Androgenuberproduktion (adrenaler Pseudohermaphrodismus masculinus). Helv Paediatr Acta 10:397-412
8. Camacho AM, Kowarski A, Migeon CJ, Brough AJ 1968 Congenital adrenal hyperplasia due to a deficiency of one of the enzymes involved in the biosynthesis of pregnenolone. J Clin Endocrinol Metab 28:153-161
9. Hauffa BP, Miller WL, Grumbach MM, Conte FA, Kaplan SL 1985 Congenital adrenal hyperplasia due to deficient cholesterol sidechain cleavage activity (20, 22-desmolase) in a patient treated for 18 years. Clin Endocrinol (Oxf) 23:481-493
10. Miller WL 1988 Molecular biology of steroid hormone synthesis. Endocr Rev 9:295-318
11. Matteson KJ, Chung BC, Urdea MS, Miller WL 1986 Study of cholesterol side-chain cleavage (20,22 desmolase) deficiency causing congenital lipoid adrenal hyperplasia using bovine-sequence P450scc oligodeoxyribonucleotide probes. Endocrinology 118:1296-1305 (Pubitemid 16078499)
12. Lin D, Gitelman SE, Saenger P, Miller WL 1991 Normal genes for the cholesterol side chain cleavage enzyme, P450scc, in congenital lipoid adrenal hyperplasia. J Clin Invest 88:1955-1962
13. Sakai Y, Yanase T, Okabe Y, Hara T, Waterman MR, Takayanagi R, Haji M, Nawata H 1994 No mutation in cytochrome P450 side chain cleavage in a patient with congenital lipoid adrenal hyperplasia. J Clin Endocrinol Metab 79:1198-1201 (Pubitemid 24342272)
14. Lin D, Sugawara T, Strauss 3rd JF, Clark BJ, Stocco DM, Saenger P, Rogol A, Miller WL 1995 Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis. Science 267:1828-1831
15. Bose HS, Sugawara T, Strauss 3rd JF, Miller WL 1996 The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. N Engl J Med 335:1870-1878 (Pubitemid 26419194)
16. Nakae J, Tajima T, Sugawara T, Arakane F, Hanaki K, Hotsubo T, Igarashi N, Igarashi Y, Ishii T, Koda N, Kondo T, Kohno H, Nakagawa Y, Tachibana K, Takeshima Y, Tsubouchi K, Strauss 3rd JF, Fujieda K 1997 Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia. Hum Mol Genet 6:571-576
17. Bose HS, Sato S, Aisenberg J, Shalev SA, Matsuo N, Miller WL 2000 Mutations in the steroidogenic acute regulatory protein (StAR) in six patients with congenital lipoid adrenal hyperplasia. J Clin Endocrinol Metab 85:3636-3639
18. Miller WL 2007 StAR search - what we know about how the steroidogenic acute regulatory protein mediates mitochondrial cholesterol import. Mol Endocrinol 21:589-601
19. Baker BY, Lin L, Kim CJ, Raza J, Smith CP, Miller WL, Achermann JC 2006 Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia. J Clin Endocrinol Metab 91:4781-4785 (Pubitemid 44917307)
20. Metherell LA, Naville D, Halaby G, Begeot M, Huebner A, Nürnberg G, Nürnberg P, Green J, Tomlinson JW, Krone NP, Lin L, RacineM, Berney DM, Achermann JC, Arlt W, Clark AJ 2009 Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency. J Clin Endocrinol Metab 94:3865-3871
21. Sahakitrungruang T, Soccio RE, Lang-Muritano M, Walker JM, Achermann JC, Miller WL 2010 Clinical, genetic, and functional characterization of four patients carrying partial loss-of-function mutations in the steroidogenic acute regulatory protein (StAR). J Clin Endocrinol Metab 95:3352-3359
22. Sugawara T, Holt JA, Driscoll D, Strauss 3rd JF, Lin D, Miller WL, Patterson D, Clancy KP, Hart IM, Clark BJ 1995 Human steroidogenic acute regulatory protein: functional activity in COS-1 cells, tissue-specific expression, and mapping of the structural gene to 8p11.2 and a pseudogene to chromosome 13. Proc Natl Acad Sci USA 92:4778-4782
23. Tajima T, Fujieda K, Kouda N, Nakae J, Miller WL 2001 Heterozygous mutation in the cholesterol side chain cleavage enzyme (P450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency. J Clin Endocrinol Metab 86:3820-3825 (Pubitemid 32755983)
24. Katsumata N, Ohtake M, Hojo T, Ogawa E, Hara T, Sato N, Tanaka T 2002 Compound heterozygous mutations in the cholesterol side-chain cleavage enzyme gene (CYP11A) cause congenital adrenal insufficiency in humans. J Clin Endocrinol Metab 87:3808-3813 (Pubitemid 34879531)
25. Hiort O, Holterhus PM, Werner R, Marschke C, Hoppe U, Partsch CJ, Riepe FG, Achermann JC, Struve D 2005 Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure. J Clin Endocrinol Metab 90:538-541 (Pubitemid 40116705)
26. al Kandari H, Katsumata N, Alexander S, Rasoul MA 2006 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. J Clin Endocrinol Metab 91:2821-2826
27. Kim CJ, Lin L, Huang N, Quigley CA, AvRuskin TW, Achermann JC, Miller WL 2008 Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc. J Clin Endocrinol Metab 93:696-702 (Pubitemid 351398541)
28. Rubtsov P, Karmanov M, Sverdlova P, Spirin P, Tiulpakov A 2009 A novel homozygous mutation in CYP11A1 gene is associated with late-onset adrenal insufficiency and hypospadias in a 46,XY patient. J Clin Endocrinol Metab 94:936-939
29. Lin L, Gu WX, Ozisik G, To WS, Owen CJ, Jameson JL, Achermann JC 2006 Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience. J Clin Endocrinol Metab 91:3048-3054 (Pubitemid 44271754)
30. Bose HS, Pescovitz OH, Miller WL 1997 Spontaneous feminization in a46,XXfemale patient with congenital lipoid adrenal hyperplasia due to a homozygous frameshift mutation in the steroidogenic acute regulatory protein. J Clin Endocrinol Metab 82:1511-1515 (Pubitemid 27200427)
31. Harikrishna JA, Black SM, Szklarz GD, Miller WL 1993 Construction and function of fusion enzymes of the human cytochrome P450scc system. DNA Cell Biol 12:371-379 (Pubitemid 23183515)
32. Toaff ME, Schleyer H, Strauss 3rd JF 1982 Metabolism of 25-hydroxycholesterol by rat luteal mitochondria and dispersed cells. Endocrinology 111:1785-1790
33. Zuber MX, Mason JI, Simpson ER, Waterman MR 1988 Simultaneous transfection of COS-1cells with mitochondrial and microsomal steroid hydroxylases: incorporation of a steroidogenic pathway into nonsteroidogenic cells. Proc Natl Acad Sci USA 85:699-703 (Pubitemid 18073903)
34. Strushkevich NV, MacKenzie F, Tempel W, Botchkarev A, Arrowsmith CH, Edwards AM, Bountra C, Weigelt JU, Park H, Structural Genomics Consortium (SGC) 2010 Crystal structure of human CYP11A1 in complex with 20,22- dihydroxycholesterol. DOI: 10.2210/pdb3na0/pdb
35. Kabsch W, Sander C 1983 Dictionary of protein secondary structure: pattern recognition of hydrogen-bonded and geometrical features. Biopolymers 22:2577-2637
36. Csapo AI, Pulkkinen MO, Wiest WG 1973 Effects of luteectomy and progesterone replacement therapy in early pregnant patients. Am J Obstet Gynecol 115:759-765
37. Tuckey RC 2005 Progesterone synthesis by the human placenta. Placenta 26:273-281 (Pubitemid 40485864)
38. Huang N, Miller WL 2000 Cloning of factors related to HIV-inducible LBP proteins that regulate steroidogenic factor-1-independent human placental transcription of the cholesterol side-chain cleavage enzyme, P450scc. J Biol Chem 275:2852-2858 (Pubitemid 30082059)
39. Fu GK, Lin D, Zhang MY, Bikle DD, Shackleton CH, Miller WL, Portale AA 1997 Cloning of human 25-hydroxyvitamin D-1α-hydroxylase and mutations causing vitamin D-dependent rickets type 1. Mol Endocrinol 11:1961-1970 (Pubitemid 27524879)
40. Cali JJ, Russell DW 1991 Characterization of human sterol 27-hydroxylase. A mitochondrial cytochrome P450 that catalyzes multiple oxidation reactions in bile acid synthesis. J Biol Chem 266:7774-7778 (Pubitemid 21906433)
41. 3 24-hydroxylasecDNA. Proc Natl Acad Sci USA 90:4543-4547
42. Mornet E, Dupont J, Vitek A, White PC 1989 Characterization of two genes encoding human steroid 11β-hydroxylase (P-45011β). J Biol Chem 264:20961-20967 (Pubitemid 20017902)