메뉴 건너뛰기




Volumn 5, Issue 2, 2007, Pages 633-641

Phenotypic features of 46, XX females with StAR protein mutations

Author keywords

Gonadal development; Irregular periods; Lipoid accumulation; Lipoid CAH; Menopause; Ovarian cysts; StAR; Steroidogenesis

Indexed keywords

ESTROGEN; LEUPRORELIN; MEDROXYPROGESTERONE; PROGESTERONE; STEROIDOGENIC ACUTE REGULATORY PROTEIN;

EID: 37549038173     PISSN: 15654753     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (22)

References (27)
  • 1
    • 0025941096 scopus 로고
    • The 30-kDa mitochondrial proteins induced by hormone stimulation in MA-10 mouse Leydig tumor cells are processed from larger precursors
    • 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;266:19731-19738
    • (1991) J Biol Chem , vol.266 , pp. 19731-19738
    • Stocco, D.M.1    Sodeman, T.C.2
  • 2
    • 0028104418 scopus 로고
    • 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)
    • 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;269:28314-28322
    • (1994) J Biol Chem , vol.269 , pp. 28314-28322
    • Clark, B.J.1    Wells, J.2    King, S.R.3    Stocco, D.M.4
  • 3
    • 0029855881 scopus 로고    scopus 로고
    • The pathophysiology and genetics of congenital lipoid adrenal hyperplasia
    • Bose HS, Sugawara. T, Strauss III JF, Miller WL. The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. New Eng J Med 1996;335: 1870-1878
    • (1996) New Eng J Med , vol.335 , pp. 1870-1878
    • Bose, H.S.1    Sugawara, T.2    Strauss III, J.F.3    Miller, W.L.4
  • 7
    • 0030955987 scopus 로고    scopus 로고
    • Spontaneous feminization in a 46,XX female patient with congenital lipoid adrenal hyperplasia due to a homozygous frameshift mutation in the steroidogenic acute regulatory protein
    • Bose HS, Pescovitz OH, Miller WL. Spontaneous feminization in a 46,XX female patient with congenital lipoid adrenal hyperplasia due to a homozygous frameshift mutation in the steroidogenic acute regulatory protein. J Clin Endocrinol Metab 1997;82:1511-1515
    • (1997) J Clin Endocrinol Metab , vol.82 , pp. 1511-1515
    • Bose, H.S.1    Pescovitz, O.H.2    Miller, W.L.3
  • 8
    • 0030901671 scopus 로고    scopus 로고
    • Spontaneous puberty in 46,XX subjects with congenital lipoid adrenal hyperplasia. Ovarian steroidogenesis is spared to some extent despite inactivating mutations in the steroidogenic acute regulatory protein (StAR) gene
    • Fujieda K, Tajima T, Nakae J, Sageshima S, Tachibana K, Suwa S, Sugawara T, Strauss III JF. Spontaneous puberty in 46,XX subjects with congenital lipoid adrenal hyperplasia. Ovarian steroidogenesis is spared to some extent despite inactivating mutations in the steroidogenic acute regulatory protein (StAR) gene. J Clin Invest 1997;99:1265-1271
    • (1997) J Clin Invest , vol.99 , pp. 1265-1271
    • Fujieda, K.1    Tajima, T.2    Nakae, J.3    Sageshima, S.4    Tachibana, K.5    Suwa, S.6    Sugawara, T.7    Strauss III, J.F.8
  • 9
    • 0033756526 scopus 로고    scopus 로고
    • Mutations in the steroidogenic acute regulatory protein (StAR) in six patients with congenital lipoid adrenal hyperplasia
    • Bose HS, Sato S, Aisenberg J, Shalev SA, Matsuo N, Miller WL. Mutations in the steroidogenic acute regulatory protein (StAR) in six patients with congenital lipoid adrenal hyperplasia. J Clin Endocrinol Metab 2000;85:3636-3639
    • (2000) J Clin Endocrinol Metab , vol.85 , pp. 3636-3639
    • Bose, H.S.1    Sato, S.2    Aisenberg, J.3    Shalev, S.A.4    Matsuo, N.5    Miller, W.L.6
  • 12
    • 0033769239 scopus 로고    scopus 로고
    • Genetic and endocrinological evaluations of three 46,XX patients with congenital lipoid adrenal hyperplasia previously reported as having presented spontaneous puberty
    • Tanae A, Katsumata N, Sato N, Horikawa R, Tanaka T. Genetic and endocrinological evaluations of three 46,XX patients with congenital lipoid adrenal hyperplasia previously reported as having presented spontaneous puberty. Endocr J 2000; 47:629-634
    • (2000) Endocr J , vol.47 , pp. 629-634
    • Tanae, A.1    Katsumata, N.2    Sato, N.3    Horikawa, R.4    Tanaka, T.5
  • 13
    • 14044251615 scopus 로고    scopus 로고
    • A genetic isolate of congenital lipoid adrenal hyperplasia with atypical clinical findings
    • Chen X, Baker BY, Abduljabbar MA, Miller WL. A genetic isolate of congenital lipoid adrenal hyperplasia with atypical clinical findings. J Clin Endocrinol Metab 2005;90:835-840
    • (2005) J Clin Endocrinol Metab , vol.90 , pp. 835-840
    • Chen, X.1    Baker, B.Y.2    Abduljabbar, M.A.3    Miller, W.L.4
  • 14
    • 11244346845 scopus 로고    scopus 로고
    • Family of two patients with congenital lipoid adrenal hyperplasia due to StAR mutation
    • Khoury K, Ducharme L, LeHoux JG. Family of two patients with congenital lipoid adrenal hyperplasia due to StAR mutation. Endocr Res 2004;30:925-929
    • (2004) Endocr Res , vol.30 , pp. 925-929
    • Khoury, K.1    Ducharme, L.2    LeHoux, J.G.3
  • 16
    • 0030743449 scopus 로고    scopus 로고
    • A novel splicing junction mutation in the gene for the steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasia
    • Okuyama E, Nishi N, Onishi S, Itoh S, Ishii Y, Miyanaka H, Fujita K, Ichikawa Y. A novel splicing junction mutation in the gene for the steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasia. J Clin Endocrinol Metab 1997;82:2337-2342
    • (1997) J Clin Endocrinol Metab , vol.82 , pp. 2337-2342
    • Okuyama, E.1    Nishi, N.2    Onishi, S.3    Itoh, S.4    Ishii, Y.5    Miyanaka, H.6    Fujita, K.7    Ichikawa, Y.8
  • 18
    • 85011519686 scopus 로고    scopus 로고
    • Spatio-temporal expression patterns of steroidogenic acute regulatory protein (StAR) during follicular development in the rat ovary
    • Ronen-Fuhrmann T, Timberg R, King SR, Hales KH, Hales DB, Stocco DM, Orly J. Spatio-temporal expression patterns of steroidogenic acute regulatory protein (StAR) during follicular development in the rat ovary. Endocrinology 1998;139:303-315
    • (1998) Endocrinology , vol.139 , pp. 303-315
    • Ronen-Fuhrmann, T.1    Timberg, R.2    King, S.R.3    Hales, K.H.4    Hales, D.B.5    Stocco, D.M.6    Orly, J.7
  • 19
    • 0022966989 scopus 로고    scopus 로고
    • Pon LA, Orme-Johnson NR. Acute stimulation of steroidogenesis in corpus luteum and adrenal cortex by peptide hormones. Rapid induction of a similar protein in both tissues. J Biol Chem 1986;261:6594-6599
    • Pon LA, Orme-Johnson NR. Acute stimulation of steroidogenesis in corpus luteum and adrenal cortex by peptide hormones. Rapid induction of a similar protein in both tissues. J Biol Chem 1986;261:6594-6599
  • 23
    • 23844513440 scopus 로고    scopus 로고
    • Oocyte and ovarian tissue cryopreservation: Indications, techniques, and applications
    • Shamonki MI Oktay K. Oocyte and ovarian tissue cryopreservation: indications, techniques, and applications. Semin Reprod Med 2005;23:266-276
    • (2005) Semin Reprod Med , vol.23 , pp. 266-276
    • Shamonki, M.I.1    Oktay, K.2
  • 24
    • 0031402462 scopus 로고    scopus 로고
    • Detection of the missense mutation A218V in the steroidogenic acute regulatory protein gene of a Japanese patient with congenital lipoid adrenal hyperplasia
    • Katsumata N, Tanae A, Shinagawa T, Nagashima-Miyokawa A, Shimizu M, Yasunaga T, Tanaka T, Hibi I. Detection of the missense mutation A218V in the steroidogenic acute regulatory protein gene of a Japanese patient with congenital lipoid adrenal hyperplasia. Clin Pediatr Endocrinol 1997;6:33-37
    • (1997) Clin Pediatr Endocrinol , vol.6 , pp. 33-37
    • Katsumata, N.1    Tanae, A.2    Shinagawa, T.3    Nagashima-Miyokawa, A.4    Shimizu, M.5    Yasunaga, T.6    Tanaka, T.7    Hibi, I.8
  • 25
    • 0031834412 scopus 로고    scopus 로고
    • A patient with congenital lipoid adrenal hyperplasia evaluated by serial abdominal ultrasonography
    • Takaya J, Ishihara R, Kino M, Higashino H, Kobayashi Y. A patient with congenital lipoid adrenal hyperplasia evaluated by serial abdominal ultrasonography. Eur J Pediatr 1998;157:544-546
    • (1998) Eur J Pediatr , vol.157 , pp. 544-546
    • Takaya, J.1    Ishihara, R.2    Kino, M.3    Higashino, H.4    Kobayashi, Y.5
  • 26
    • 0034854545 scopus 로고    scopus 로고
    • Molecular and structural analysis of two novel StAR mutations in patients with lipoid congenital adrenal hyperplasia
    • Achermann JC, Meeks JJ, Jeffs B, Das U, Clayton PE, Brook CG, Jameson JL. Molecular and structural analysis of two novel StAR mutations in patients with lipoid congenital adrenal hyperplasia. Mol Genet Metab 2001;73:354-357
    • (2001) Mol Genet Metab , vol.73 , pp. 354-357
    • Achermann, J.C.1    Meeks, J.J.2    Jeffs, B.3    Das, U.4    Clayton, P.E.5    Brook, C.G.6    Jameson, J.L.7
  • 27
    • 0031722170 scopus 로고    scopus 로고
    • Molecular and clinical characterization of Korean patients with congenital lipoid adrenal hyperplasia
    • Yoo HW, Kim GH. Molecular and clinical characterization of Korean patients with congenital lipoid adrenal hyperplasia. J Pediatr Endocrinol Metab 1998;11:707-711
    • (1998) J Pediatr Endocrinol Metab , vol.11 , pp. 707-711
    • Yoo, H.W.1    Kim, G.H.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.