The pathophysiology and genetics of congenital lipoid adrenal hyperplasia

New England Journal of Medicine

Volumn 335, Issue 25, 1996, Pages 1870-1878

  Bose, Himangshu S ^a   Sugawara, Teruo ^b   Strauss III, Jerome F ^b   Miller, Walter L ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

REGULATOR PROTEIN;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; BIOACCUMULATION; CLINICAL ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; GENE CONTROL; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN TISSUE; PATHOPHYSIOLOGY; PRIORITY JOURNAL; REGULATORY MECHANISM; SEQUENCE ANALYSIS; STEROIDOGENESIS;

ADRENAL GLANDS; ADRENAL HYPERPLASIA, CONGENITAL; FEMALE; FRAMESHIFT MUTATION; GENETIC SCREENING; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; PHENOTYPE; PHOSPHOPROTEINS;

EID: 0029855881     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJM199612193352503     Document Type: Article

References (37)

1. Sandison AT. A form of lipoidosis of the adrenal cortex in an infant. Arch Dis Child 1955;30:538-41.
2. Prader A, Gurtner HP. Das Syndrom des Pseudohermaphroditismus masculinus bei kongenitaler Nebennierenrinden-Hyperplasie ohne Androgenüberproduktion (adrenaler Pseudohermaphroditismus masculinus). Helv Paed Acta 1955;10:397-412.
3. Kirkland RT, Kirkland JL, Johnson CM, Horning MG, Librik L, Clayton GW. Congenital lipoid adrenal hyperplasia in an eight-year-old phenotypic female. J Clin Endocrinol Metab 1973;36:488-96.
4. Hauffa BP, Miller WL, Grumbach MM, Conte FA, Kaplan SL. Congenital adrenal hyperplasia due to deficient cholesterol side-chain cleavage activity (20, 22 desmolase) in a patient treated for 18 years. Clin Endocrinol (Oxf) 1985;23:481-93.
5. Matsuo N, Tsuzaki S, Anzo M, Ogata T, Sato S. The phenotypic definition of congenital lipoid adrenal hyperplasia: analysis of the 67 Japanese patients. Horm Res 1994;41:Suppl:106. abstract.
6. Camacho AM, Kowarski A, Migeon CJ, Brough AJ. Congenital adrenal hyperplasia due to a deficiency of one of the enzymes involved in the biosynthesis of pregnenolone. J Clin Endocrinol Metab 1968;28:153-61.
7. Degenhart HJ, Visser HKA, Boon H, O'Doherty NJ. Evidence for deficiency of 20α-cholesterol-hydroxylase activity in adrenal tissue of a patient with lipoid adrenal hyperplasia. Acta Endocrinol 1972;71:512-8.
8. Koizumi S, Kyoya S, Miyawaki T, Kidani H, Funabashi T. Cholesterol side-chain cleavage enzyme activity and cytochrome P-450 content in adrenal mitochondria of a patient with congenital lipoid adrenal hyperplasia (Prader disease). Clin Chim Acta 1977;77:301-6.
9. Miller WL. Molecular biology of steroid hormone synthesis. Endocr Rev 1988;9:295-318.
10. Lin D, Gitelman SE, Saenger P, Miller WL. Normal genes for the cholesterol side chain cleavage enzyme, P450scc, in congenital lipoid adrenal hyperplasia. J Clin Invest 1991;88:1955-62.
11. Lin D, Chang YJ, Strauss JF III, Miller WL. The human peripheral benzodiazepine receptor gene: cloning and characterization of alternative splicing in normal tissues and in a patient with congenital lipoid adrenal hyperplasia. Genomics 1993;18:643-50.
12. Matteson KJ, Chung BC, Urdea MS, Miller WL. Study of cholesterol side-chain cleavage (20,22 desmolase) deficiency causing congenital lipoid adrenal hyperplasia using bovine-sequence P450scc oligodeoxyribonucleotide probes. Endocrinology 1986;118:1296-305.
13. Sakai Y, Yanase T, Okabe Y, et al. No mutation in cytochrome P450 side chain cleavage in a patient with congenital lipoid adrenal hyperplasia. J Clin Endocrinol Metab 1994;79:1198-201.
14. Fukami M, Sato S, Ogata T, Matsuo N. Lack of mutations in P450scc gene (CYP11A) in six Japanese patients with congenital lipoid adrenal hyperplasia. Clin Pediatr Endocrinol 1995;4:39-46.
15. Saenger P, Klonari Z, Black SM, et al. Prenatal diagnosis of congenital lipoid adrenal hyperplasia. J Clin Endocrinol Metab 1995;80:200-5.
16. Epstein LF, Orme-Johnson NR. Regulation of steroid hormone biosynthesis: identification of precursors of a phosphoprotein targeted to the mitochondrion in stimulated rat adrenal cortex cells. J Biol Chem 1991; 266:19739-45.
17. Stocco DM, Sodeman TC. The 30-kDa mitochondrial proteins induced by hormone stimulation in MA-10 mouse Leydig tumor cells are processed from larger precursors. J Biol Chem 1991;266:19731-8.
18. Clark BJ, Wells J, King SR, Stocco DM. The purification, cloning, and expression of a novel luteinizing hormone-induced mitochondrial protein in MA-10 mouse Leydig tumor cells: characterization of the steroidogenic acute regulatory protein (StAR). J Biol Chem 1994;269:28314-22.
19. Sugawara T, Holt JA, Driscoll D, et al. 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 U S A 1995;92:4778-82.
20. Sugawara T, Lin D, Holt JA, et al. Structure of the human steroidogenic acute regulatory protein ( StAR) gene: StAR stimulates mitochondrial cholesterol 27-hydroxylase activity. Biochemistry 1995;34:12506-12.
21. Lin D, Sugawara T, Strauss JF III, et al. Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis. Science 1995; 267:1828-31.
22. Tee MK, Lin D, Sugawara T, et al. T→A transversion 11 bp from a splice acceptor site in the gene for steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasia. Hum Mol Genet 1995;4: 2299-305.
23. Kondo T, Saito H, Nagahara S, Kobayashi Y. Clinical findings and gonadal pathology in three cases of congenital lipoid adrenal hyperplasia (Prader syndrome). Clin Endocrinol 1986;34:322-5. (In Japanese.)
24. Kondo T, Saito H. Hormonal status in a patient with congenital lipoid adrenal hyperplasia and hyperpigmentation. Jpn J Pediatr 1986;34:Suppl: 1223-8. (In Japanese.)
25. Kondo T, Nagahara S, Kobayashi Y. A case of congenital lipoid adrenal hyperplasia complicated by Wilson's disease. Clin Endocrinol 1993;41: Suppl:163-7 (In Japanese.)
26. Müller J, Torsson A, Damkjaer Nielsen M, Petersen KE, Christoffersen J, Skakkebaek NE. Gonadal development and growth in 46,XX and 46,XY individuals with P450scc deficiency (congenital lipoid adrenal hyperplasia). Horm Res 1991;36:203-8.
27. Saenger P, Lin D, Gitelman SE, Miller WL. Congenital lipoid adrenal hyperplasia - genes for P450scc, side chain cleavage enzyme, are normal. J Steroid Biochem Mol Biol 1993;45:87-97.
28. Harikrishna JA, Black SM, Szklarz GD, Miller WL. Construction and function of fusion enzymes of the human cytochrome P450scc system. DNA Cell Biol 1993;12:371-9.
29. Zuber MX, Mason JI, Simpson ER, Waterman MR. Simultaneous transfection of COS-1 cells with mitochondrial and microsomal steroid hydroxylases: incorporation of a steroidogenic pathway into nonsteroidogenic cells. Proc Natl Acad Sci U S A 1988;85:699-703.
30. Toaff ME, Schleyer H, Strauss JF III. Metabolism of 25-hydroxycholesterol by rat luteal mitochondria and dispersed cells. Endocrinology 1982;111:1785-90.
31. Luo X, Ikeda Y, Parker KL. A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation. Cell 1994; 77:481-90.
32. Hatano O, Takayama K, Imai T, et al. Sex-dependent expression of a transcription factor, Ad4BP, regulating steroidogenic P-450 genes in the gonads during prenatal and postnatal rat development. Development 1994;120:2787-97.
33. Stocco DM, Clark BJ. Regulation of the acute production of steroids in steroidogenic cells. Endocr Rev 1996;17:221-44.
34. Arakane F, Sugawara T, Nishino H, et al. Steroidogenic acute regulatory protein (StAR) retains activity in the absence of its mitochondrial targeting sequence: implications for the mechanism of StAR action. Proc Natl Acad Sci U S A 1996;93:13731-6.
35. Hall PF. The roles of microfilaments and intermediate filaments in the regulation of steroid synthesis. J Steroid Biochem Mol Biol 1995;55:601-5.
36. Mesiano S, Coulter CL, Jaffe RB. Localization of cytochrome P450 cholesterol side-chain cleavage, cytochrome P450 17α-hydroxylase/ 17, 20 lyase, and 30-hydroxysteroid dehydrogenase isomerase steroidogenic enzymes in human and rhesus monkey fetal adrenal glands: reappraisal of functional zonation. J Clin Endocrinol Metab 1993;77: 1184-9.
37. Voutilainen R, Miller WL. Developmental expression of genes for the steroidogenic enzymes P450scc (20,22-desmolase), P450c17 (17α-hydroxylase/17,20-lyase), and P450c21 (21-hydroxylase) in the human fetus. J Clin Endocrinol Metab 1986;63:1145-50.