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Volumn 91, Issue 12, 2012, Pages 1445-1452

Women with acute intermittent porphyria have a defect in 5α-steroid production during the menstrual cycle

Author keywords

Acute intermittent porphyria; allopregnanolone; menstrual cycle; pregnanolone; progesterone

Indexed keywords

3ALPHA HYDROXY 5ALPHA PREGNAN 20 ONE; 5 AMINOLEVULINATE SYNTHASE; ELTANOLONE; ESTRADIOL; PORPHOBILINOGEN DEAMINASE; PROGESTERONE; STEROID 5ALPHA REDUCTASE; STEROID 5ALPHA REDUCTASE 1; STEROID 5BETA REDUCTASE;

EID: 84870930981     PISSN: 00016349     EISSN: 16000412     Source Type: Journal    
DOI: 10.1111/j.1600-0412.2012.01536.x     Document Type: Article
Times cited : (7)

References (40)
  • 3
    • 0034523829 scopus 로고    scopus 로고
    • The W198X and R173W mutations in the porphobilinogen deaminase gene in acute intermittent porphyria have higher clinical penetrance than R167W. A population-based study
    • Andersson C, Floderus Y, Wikberg A, Lithner F,. The W198X and R173W mutations in the porphobilinogen deaminase gene in acute intermittent porphyria have higher clinical penetrance than R167W. A population-based study. Scand J Clin Lab Invest. 2000; 60: 643-8.
    • (2000) Scand J Clin Lab Invest. , vol.60 , pp. 643-648
    • Andersson, C.1    Floderus, Y.2    Wikberg, A.3    Lithner, F.4
  • 4
    • 0000718795 scopus 로고    scopus 로고
    • Disorders of heme biosynthesis: X-linked sideroblastic anemia and the porphyrias
    • Scriver JRBA, Sly W.S. Valle D. (eds). 8th edn. chapter 124, New York: McGraw-Hill
    • Anderson KE, Sassa S, Bishop DF, Desnick RJ,. Disorders of heme biosynthesis: X-linked sideroblastic anemia and the porphyrias. In:, Scriver JRBA, Sly WS, Valle D, (eds). The metabolic and molecular bases of inherited disease, 8th edn. chapter 124, New York: McGraw-Hill, 2001 pp. 3008-20.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 3008-3020
    • Anderson, K.E.1    Sassa, S.2    Bishop, D.F.3    Desnick, R.J.4
  • 5
    • 70249137583 scopus 로고    scopus 로고
    • Clinical aspects of acute intermittent porphyria in northern Sweden: A population-based study
    • Bylesjö I, Wikberg A, Andersson C,. Clinical aspects of acute intermittent porphyria in northern Sweden: a population-based study. Scand J Clin Lab Invest. 2009; 69: 612-8.
    • (2009) Scand J Clin Lab Invest. , vol.69 , pp. 612-618
    • Bylesjö, I.1    Wikberg, A.2    Andersson, C.3
  • 6
    • 0014027226 scopus 로고
    • The induction in vitro of the synthesis of δ-aminolevulinic acid synthetase in chemical porphyria: A response to certain drugs, sex hormones, and foreign chemicals
    • Granick S,. The induction in vitro of the synthesis of δ-aminolevulinic acid synthetase in chemical porphyria: a response to certain drugs, sex hormones, and foreign chemicals. J Biol Chem. 1966; 241: 1359-75.
    • (1966) J Biol Chem. , vol.241 , pp. 1359-1375
    • Granick, S.1
  • 7
    • 0026595202 scopus 로고
    • Prognosis of acute porphyria: Occurrence of acute attacks, precipitating factors, and associated diseases
    • Kauppinen R, Mustajoki P,. Prognosis of acute porphyria: occurrence of acute attacks, precipitating factors, and associated diseases. Medicine (Baltimore). 1992; 71: 1-13.
    • (1992) Medicine (Baltimore). , vol.71 , pp. 1-13
    • Kauppinen, R.1    Mustajoki, P.2
  • 9
    • 0001100581 scopus 로고
    • Progesterone-induced porphyria; Case report
    • Levit EJ, Nodine JH, Perloff WH,. Progesterone-induced porphyria; case report. Am J Med. 1957; 22: 831-3.
    • (1957) Am J Med. , vol.22 , pp. 831-833
    • Levit, E.J.1    Nodine, J.H.2    Perloff, W.H.3
  • 10
    • 0013952641 scopus 로고
    • Onset of manifestations of hepatic porphyria in relation to the influence of female sex hormones
    • Zimmerman TS, McMillin JM, Watson CJ,. Onset of manifestations of hepatic porphyria in relation to the influence of female sex hormones. Arch Intern Med. 1966; 118: 229-40.
    • (1966) Arch Intern Med. , vol.118 , pp. 229-240
    • Zimmerman, T.S.1    McMillin, J.M.2    Watson, C.J.3
  • 11
    • 0014703261 scopus 로고
    • Acute intermittent porphyria. A clinical and biochemical study of 46 patients
    • Stein JA, Tschudy DP,. Acute intermittent porphyria. A clinical and biochemical study of 46 patients. Medicine (Baltimore). 1970; 49: 1-16.
    • (1970) Medicine (Baltimore). , vol.49 , pp. 1-16
    • Stein, J.A.1    Tschudy, D.P.2
  • 12
    • 0020059420 scopus 로고
    • Alterations in haem biosynthesis during the human menstrual cycle: Studies in normal subjects and patients with latent and active acute intermittent porphyria
    • McColl KE, Wallace AM, Moore MR, Thompson GG, Goldberg A,. Alterations in haem biosynthesis during the human menstrual cycle: studies in normal subjects and patients with latent and active acute intermittent porphyria. Clin Sci (Lond). 1982; 62: 183-91.
    • (1982) Clin Sci (Lond). , vol.62 , pp. 183-191
    • McColl, K.E.1    Wallace, A.M.2    Moore, M.R.3    Thompson, G.G.4    Goldberg, A.5
  • 13
    • 0021220647 scopus 로고
    • Prevention of cyclical attacks of acute intermittent porphyria with a long-acting agonist of luteinizing hormone-releasing hormone
    • Anderson KE, Spitz IM, Sassa S, Bardin CW, Kappas A,. Prevention of cyclical attacks of acute intermittent porphyria with a long-acting agonist of luteinizing hormone-releasing hormone. N Engl J Med. 1984; 311: 643-5.
    • (1984) N Engl J Med. , vol.311 , pp. 643-645
    • Anderson, K.E.1    Spitz, I.M.2    Sassa, S.3    Bardin, C.W.4    Kappas, A.5
  • 14
    • 0042343896 scopus 로고    scopus 로고
    • Acute intermittent porphyria in women: Clinical expression, use and experience of exogenous sex hormones. A population-based study in northern Sweden
    • Andersson C, Innala E, Backstrom T,. Acute intermittent porphyria in women: clinical expression, use and experience of exogenous sex hormones. A population-based study in northern Sweden. J Intern Med. 2003; 254: 176-83.
    • (2003) J Intern Med. , vol.254 , pp. 176-183
    • Andersson, C.1    Innala, E.2    Backstrom, T.3
  • 15
    • 0014429031 scopus 로고
    • Steroid induction of porphyrin synthesis in liver cell culture. II. the effects of heme, uridine diphosphate glucuronic acid, and inhibitors of nucleic acid and protein synthesis on the induction process
    • Kappas A, Granick S,. Steroid induction of porphyrin synthesis in liver cell culture. II. The effects of heme, uridine diphosphate glucuronic acid, and inhibitors of nucleic acid and protein synthesis on the induction process. J Biol Chem. 1968; 243: 346-51.
    • (1968) J Biol Chem. , vol.243 , pp. 346-351
    • Kappas, A.1    Granick, S.2
  • 16
    • 0018611304 scopus 로고
    • Steroid induction of δ-aminolevulinic acid synthase and porphyrins in liver. Structure-activity studies and the permissive effects of hormones on the induction process
    • Sassa S, Bradlow HL, Kappas A,. Steroid induction of δ- aminolevulinic acid synthase and porphyrins in liver. Structure-activity studies and the permissive effects of hormones on the induction process. J Biol Chem. 1979; 254: 10011-20.
    • (1979) J Biol Chem. , vol.254 , pp. 10011-10020
    • Sassa, S.1    Bradlow, H.L.2    Kappas, A.3
  • 19
    • 34250217417 scopus 로고    scopus 로고
    • Allopregnanolone decrease with symptom improvement during placebo and gonadotropin-releasing hormone agonist treatment in women with severe premenstrual syndrome
    • Nyberg S, Bäckström T, Zingmark E, Purdy RH, Poromaa IS,. Allopregnanolone decrease with symptom improvement during placebo and gonadotropin-releasing hormone agonist treatment in women with severe premenstrual syndrome. Gynecol Endocrinol. 2007; 23: 257-66.
    • (2007) Gynecol Endocrinol. , vol.23 , pp. 257-266
    • Nyberg, S.1    Bäckström, T.2    Zingmark, E.3    Purdy, R.H.4    Poromaa, I.S.5
  • 21
    • 0018763872 scopus 로고
    • Studies in porphyria. VIII. Relationship of the 5 alpha-reductive metabolism of steroid hormones to clinical expression of the genetic defect in acute intermittent porphyria
    • Anderson KE, Bradlow HL, Sassa S, Kappas A,. Studies in porphyria. VIII. Relationship of the 5 alpha-reductive metabolism of steroid hormones to clinical expression of the genetic defect in acute intermittent porphyria. Am J Med. 1979; 66: 644-50.
    • (1979) Am J Med. , vol.66 , pp. 644-650
    • Anderson, K.E.1    Bradlow, H.L.2    Sassa, S.3    Kappas, A.4
  • 22
    • 0028173882 scopus 로고
    • Steroid 5α-reductase: Two genes/two enzymes
    • Russell DW, Wilson JD,. Steroid 5α-reductase: two genes/two enzymes. Annu Rev Biochem. 1994; 63: 25-61.
    • (1994) Annu Rev Biochem. , vol.63 , pp. 25-61
    • Russell, D.W.1    Wilson, J.D.2
  • 23
    • 0027979898 scopus 로고
    • Cloning and expression of cDNA of human Δ4-3-oxosteroid 5β-reductase and substrate specificity of the expressed enzyme
    • Kondo KH, Kai MH, Setoguchi Y, Eggertsen G, Sjöblom P, Setoguchi T, et al,. Cloning and expression of cDNA of human Δ4-3-oxosteroid 5β-reductase and substrate specificity of the expressed enzyme. Eur J Biochem. 1994; 219: 357-63.
    • (1994) Eur J Biochem. , vol.219 , pp. 357-363
    • Kondo, K.H.1    Kai, M.H.2    Setoguchi, Y.3    Eggertsen, G.4    Sjöblom, P.5    Setoguchi, T.6
  • 24
    • 36949000088 scopus 로고    scopus 로고
    • Novel 5α-steroid reductase (SRD5A3, type-3) is overexpressed in hormone-refractory prostate cancer
    • Uemura M, Tamura K, Chung S, Honma S, Okuyama A, Nakamura Y, et al,. Novel 5α-steroid reductase (SRD5A3, type-3) is overexpressed in hormone-refractory prostate cancer. Cancer Sci. 2008; 99: 81-6.
    • (2008) Cancer Sci. , vol.99 , pp. 81-86
    • Uemura, M.1    Tamura, K.2    Chung, S.3    Honma, S.4    Okuyama, A.5    Nakamura, Y.6
  • 25
    • 0002566872 scopus 로고
    • The normal menstrual cycle
    • Shearman R.P. (ed). Edinburgh: Churchill Livingstone
    • Lenton EA, Landgren BM,. The normal menstrual cycle. In:, Shearman RP, (ed). Clinical reproductive endocrinology. Edinburgh: Churchill Livingstone, 1985. pp. 81-108.
    • (1985) Clinical Reproductive Endocrinology , pp. 81-108
    • Lenton, E.A.1    Landgren, B.M.2
  • 26
    • 0024409371 scopus 로고
    • Diagnosis of premenstrual tension syndrome: Description and evaluation of procedure for diagnosis and differential diagnosis
    • Hammarbäck S, Bäckström T, Mac-Gibbon-Taylor B,. Diagnosis of premenstrual tension syndrome: description and evaluation of procedure for diagnosis and differential diagnosis. J Psychosom Obstet Gynaecol. 1989; 10: 25-42.
    • (1989) J Psychosom Obstet Gynaecol. , vol.10 , pp. 25-42
    • Hammarbäck, S.1    Bäckström, T.2    Mac-Gibbon-Taylor, B.3
  • 27
    • 0031962178 scopus 로고    scopus 로고
    • Patients with premenstrual syndrome have a different sensitivity to a neuroactive steroid during the menstrual cycle compared to control subjects
    • Sundström I, Andersson A, Nyberg S, Ashbrook D, Purdy RH, Bäckström T,. Patients with premenstrual syndrome have a different sensitivity to a neuroactive steroid during the menstrual cycle compared to control subjects. Neuroendocrinology. 1998; 67: 126-38.
    • (1998) Neuroendocrinology. , vol.67 , pp. 126-138
    • Sundström, I.1    Andersson, A.2    Nyberg, S.3    Ashbrook, D.4    Purdy, R.H.5    Bäckström, T.6
  • 29
    • 0025030029 scopus 로고
    • Radioimmunoassay of 3 alpha-hydroxy-5 alpha-pregnan-20-one in rat and human plasma
    • Purdy RH, Moore PH Jr, Rao PN, Hagino N, Yamaguchi T, Schmidt P, et al,. Radioimmunoassay of 3 alpha-hydroxy-5 alpha-pregnan-20-one in rat and human plasma. Steroids. 1990; 55: 290-6.
    • (1990) Steroids. , vol.55 , pp. 290-296
    • Purdy, R.H.1    Moore, Jr.P.H.2    Rao, P.N.3    Hagino, N.4    Yamaguchi, T.5    Schmidt, P.6
  • 30
    • 0015435370 scopus 로고
    • Studies in porphyria. I. A defect in the reductive transformation of natural steroid hormones in the hereditary liver disease, acute intermittent porphyria
    • Kappas A, Bradlow HL, Gillette PN, Gallagher TF,. Studies in porphyria. I. A defect in the reductive transformation of natural steroid hormones in the hereditary liver disease, acute intermittent porphyria. J Exp Med. 1972; 136: 1043-53.
    • (1972) J Exp Med. , vol.136 , pp. 1043-1053
    • Kappas, A.1    Bradlow, H.L.2    Gillette, P.N.3    Gallagher, T.F.4
  • 31
    • 0030255859 scopus 로고    scopus 로고
    • 5α-Reductase 1 and 2 expression and activity in human ovarian follicles, stroma and corpus luteum as compared to neonatal foreskin
    • Haning RV Jr, Tantravahi U, Zhao Q, Hackett RJ, Canick JA,. 5α-Reductase 1 and 2 expression and activity in human ovarian follicles, stroma and corpus luteum as compared to neonatal foreskin. J Steroid Biochem Mol Biol. 1996; 59: 199-204.
    • (1996) J Steroid Biochem Mol Biol. , vol.59 , pp. 199-204
    • Haning, Jr.R.V.1    Tantravahi, U.2    Zhao, Q.3    Hackett, R.J.4    Canick, J.A.5
  • 34
    • 61649103765 scopus 로고    scopus 로고
    • 5α-Reductase isozymes and androgen actions in the prostate
    • Zhu YS, Imperato-McGinley JL,. 5α-Reductase isozymes and androgen actions in the prostate. Ann N Y Acad Sci. 2009; 1155: 43-56.
    • (2009) Ann N y Acad Sci. , vol.1155 , pp. 43-56
    • Zhu, Y.S.1    Imperato-Mcginley, J.L.2
  • 37
    • 63049138428 scopus 로고    scopus 로고
    • Polymorphisms of steroid 5-α-reductase type i (SRD5A1) gene are associated to peripheral arterial disease
    • Signorelli SS, Barresi V, Musso N, Anzaldi M, Croce E, Fiore V, et al,. Polymorphisms of steroid 5-α-reductase type I (SRD5A1) gene are associated to peripheral arterial disease. J Endocrinol Invest. 2008; 31: 1092-7.
    • (2008) J Endocrinol Invest. , vol.31 , pp. 1092-1097
    • Signorelli, S.S.1    Barresi, V.2    Musso, N.3    Anzaldi, M.4    Croce, E.5    Fiore, V.6
  • 38
    • 33749567350 scopus 로고    scopus 로고
    • Variants in the 5α-reductase type 1 and type 2 genes are associated with polycystic ovary syndrome and the severity of hirsutism in affected women
    • Goodarzi MO, Shah NA, Antoine HJ, Pall M, Guo X, Azziz R,. Variants in the 5α-reductase type 1 and type 2 genes are associated with polycystic ovary syndrome and the severity of hirsutism in affected women. J Clin Endocrinol Metab. 2006; 91: 4085-91.
    • (2006) J Clin Endocrinol Metab. , vol.91 , pp. 4085-4091
    • Goodarzi, M.O.1    Shah, N.A.2    Antoine, H.J.3    Pall, M.4    Guo, X.5    Azziz, R.6
  • 40
    • 12344251028 scopus 로고    scopus 로고
    • An analysis of 112 acute porphyric attacks in Cape Town, South Africa: Evidence that acute intermittent porphyria and variegate porphyria differ in susceptibility and severity
    • Hift RJ, Meissner PN,. An analysis of 112 acute porphyric attacks in Cape Town, South Africa: evidence that acute intermittent porphyria and variegate porphyria differ in susceptibility and severity. Medicine (Baltimore). 2005; 84: 48-60.
    • (2005) Medicine (Baltimore). , vol.84 , pp. 48-60
    • Hift, R.J.1    Meissner, P.N.2


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