메뉴 건너뛰기




Volumn 71, Issue 4, 1999, Pages 597-601

Menstrual disorders and infertility caused by inactivating mutations of the luteinizing hormone receptor gene

Author keywords

Amenorrhea; Hermaphroditism; Infertility; Intersex; Luteinizing hormone; Luteinizing hormone receptor; Mutation

Indexed keywords

CHORIONIC GONADOTROPIN; DNA; FOLLITROPIN; LUTEINIZING HORMONE RECEPTOR;

EID: 0008594842     PISSN: 00150282     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0015-0282(98)00517-2     Document Type: Review
Times cited : (22)

References (32)
  • 1
    • 0028909714 scopus 로고
    • Receptors and G proteins as primary components of transmembrane signal transduction. I. G-protein-coupled receptors: Structure and function
    • Gudermann T., Nürnberg B., Schultz G. Receptors and G proteins as primary components of transmembrane signal transduction. I. G-protein-coupled receptors: structure and function. J Mol Med. 73:1995;51-63.
    • (1995) J Mol Med , vol.73 , pp. 51-63
    • Gudermann, T.1    Nürnberg, B.2    Schultz, G.3
  • 2
    • 0028835899 scopus 로고
    • Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene
    • Kremer N., Kraaij R., Toledo S.P.A., Post M., Fridman J.B., Hayashida C.Y., et al. Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene. Nat Genet. 9:1995;160-164.
    • (1995) Nat Genet , vol.9 , pp. 160-164
    • Kremer, N.1    Kraaij, R.2    Toledo, S.P.A.3    Post, M.4    Fridman, J.B.5    Hayashida, C.Y.6
  • 3
    • 0029156762 scopus 로고
    • A nonsense mutation of the human luteinizing hormone receptor gene in Leydig cell hypoplasia
    • Laue L., Wu S.M., Kudo M., Hsueh A.J.W., Cutler G.B. Jr, Griffin J.E., et al. A nonsense mutation of the human luteinizing hormone receptor gene in Leydig cell hypoplasia. Hum Mol Genet. 4:1995;1429-1433.
    • (1995) Hum Mol Genet , vol.4 , pp. 1429-1433
    • Laue, L.1    Wu, S.M.2    Kudo, M.3    Hsueh, A.J.W.4    Cutler G.B., Jr.5    Griffin, J.E.6
  • 4
    • 0030025051 scopus 로고    scopus 로고
    • Testicular and ovarian resistance to luteinizing hormone caused by homozygous inactivating mutations of the luteinizing hormone receptor gene
    • Latronico A.C., Anasti J., Arnhold I.J.P., Rapaport R., Mendonça B.B., Bloise W., et al. Testicular and ovarian resistance to luteinizing hormone caused by homozygous inactivating mutations of the luteinizing hormone receptor gene. N Engl J Med. 334:1996;507-512.
    • (1996) N Engl J Med , vol.334 , pp. 507-512
    • Latronico, A.C.1    Anasti, J.2    Arnhold, I.J.P.3    Rapaport, R.4    Mendonça, B.B.5    Bloise, W.6
  • 5
    • 0002099443 scopus 로고
    • Disorders of sex differentiation
    • J.D. Wilson, & D.W. Foster. Philadelphia: WB Saunders Company
    • Grumbach M.M., Conte F.A. Disorders of sex differentiation. Wilson J.D., Foster D.W. Williams textbook of endocrinology. 1992;853-951 WB Saunders Company, Philadelphia.
    • (1992) Williams Textbook of Endocrinology , pp. 853-951
    • Grumbach, M.M.1    Conte, F.A.2
  • 9
    • 0032230361 scopus 로고    scopus 로고
    • A homozygous microdeletion in helix seven of the luteinizing hormone receptor associated with familial testicular and ovarian resistance is due to both decreased cell surface expression and impaired Gs activation by the cell surface receptor
    • Latronico A.C., Chai Y., Arnhold I.J.P., Liu X., Mendonca B.B., Segaloff D.L. A homozygous microdeletion in helix seven of the luteinizing hormone receptor associated with familial testicular and ovarian resistance is due to both decreased cell surface expression and impaired Gs activation by the cell surface receptor. Mol Endocrinol. 12:1998;442-450.
    • (1998) Mol Endocrinol , vol.12 , pp. 442-450
    • Latronico, A.C.1    Chai, Y.2    Arnhold, I.J.P.3    Liu, X.4    Mendonca, B.B.5    Segaloff, D.L.6
  • 11
    • 0029775563 scopus 로고    scopus 로고
    • Compound heterozygous mutations of the luteinizing hormone receptor gene in Leydig cell hypoplasia
    • Laue L.L., Wu S.M., Kudo M., Bourdony C.J., Cutler G.B. Jr, Hsueh A., et al. Compound heterozygous mutations of the luteinizing hormone receptor gene in Leydig cell hypoplasia. Mol Endocrinol. 10:1996;987-997.
    • (1996) Mol Endocrinol , vol.10 , pp. 987-997
    • Laue, L.L.1    Wu, S.M.2    Kudo, M.3    Bourdony, C.J.4    Cutler G.B., Jr.5    Hsueh, A.6
  • 12
    • 8544274427 scopus 로고    scopus 로고
    • Comparison of immunocytochemical and molecular features with the phenotype in a case of incomplete male pseudohermaphroditism associated with a mutation of the luteinizing hormone receptor
    • Misrahi M., Meduri G., Pissard S., Bouvattier C., Beau I., Loosfelt H., et al. Comparison of immunocytochemical and molecular features with the phenotype in a case of incomplete male pseudohermaphroditism associated with a mutation of the luteinizing hormone receptor. J Clin Endocrinol Metab. 82:1997;2159-2165.
    • (1997) J Clin Endocrinol Metab , vol.82 , pp. 2159-2165
    • Misrahi, M.1    Meduri, G.2    Pissard, S.3    Bouvattier, C.4    Beau, I.5    Loosfelt, H.6
  • 13
    • 0029843814 scopus 로고    scopus 로고
    • An inactivating mutation of the luteinizing hormone receptor causes amenorrhea in a 46,XX female
    • Toledo S.P., Brunner H.G., Kraaij R., Post M., Dahia P.L., Hayashida C.Y., et al. An inactivating mutation of the luteinizing hormone receptor causes amenorrhea in a 46,XX female. J Clin Endocrinol Metab. 81:1996;3850-3854.
    • (1996) J Clin Endocrinol Metab , vol.81 , pp. 3850-3854
    • Toledo, S.P.1    Brunner, H.G.2    Kraaij, R.3    Post, M.4    Dahia, P.L.5    Hayashida, C.Y.6
  • 15
    • 0001839697 scopus 로고
    • Anovulation and the polycystic ovary
    • L. Speroff, R.H. Glass, & N.G. Kase. Baltimore: Williams & Wilkins
    • Speroff L., Glass R.H., Kase N.G. Anovulation and the polycystic ovary. Speroff L., Glass R.H., Kase N.G. Clinical gynecologic endocrinology and infertility. 1994;457-482 Williams & Wilkins, Baltimore.
    • (1994) Clinical Gynecologic Endocrinology and Infertility , pp. 457-482
    • Speroff, L.1    Glass, R.H.2    Kase, N.G.3
  • 17
    • 0018192968 scopus 로고
    • 17 Beta-estradiol biosynthesis in cultured granulosa and thecal cells of human ovarian follicles: Stimulation by follicle stimulating hormone
    • Moon Y.S., Tsang B.K., Simpson C., Armstrong D.T. 17 Beta-estradiol biosynthesis in cultured granulosa and thecal cells of human ovarian follicles stimulation by follicle stimulating hormone . J Clin Endocrinol Metab. 47:1978;263-267.
    • (1978) J Clin Endocrinol Metab , vol.47 , pp. 263-267
    • Moon, Y.S.1    Tsang, B.K.2    Simpson, C.3    Armstrong, D.T.4
  • 18
    • 0025099890 scopus 로고
    • Immunohistochemical localization of pituitary gonadotrophins and gonadal steroids confirms the "two-cell, two-gonadotrophin" hypothesis of steroidogenesis in the human ovary
    • Kobayashi M., Nakano R., Ooshima A. Immunohistochemical localization of pituitary gonadotrophins and gonadal steroids confirms the "two-cell, two-gonadotrophin" hypothesis of steroidogenesis in the human ovary. J Endocrinol. 126:1990;483-488.
    • (1990) J Endocrinol , vol.126 , pp. 483-488
    • Kobayashi, M.1    Nakano, R.2    Ooshima, A.3
  • 19
    • 0023852080 scopus 로고
    • Stimulation of ovarian follicular maturation with pure follicle-stimulating hormone in women with gonadotropin deficiency
    • Couzinet B., Lestrat N., Brailly S., Forest M., Schaison G. Stimulation of ovarian follicular maturation with pure follicle-stimulating hormone in women with gonadotropin deficiency. J Clin Endocrinol Metab. 66:1988;552-556.
    • (1988) J Clin Endocrinol Metab , vol.66 , pp. 552-556
    • Couzinet, B.1    Lestrat, N.2    Brailly, S.3    Forest, M.4    Schaison, G.5
  • 20
    • 0026636044 scopus 로고
    • Human recombinant follicle-stimulating hormone induces growth of preovulatory follicles without concomitant increase in androgen and estrogen biosynthesis in a woman with isolated gonadotropin deficiency
    • Schoot D.C., Coelingh-Bennink H.J.T., Mannaerts B.M.J.L., Lamberts S.W.J., Bouchard P., Fauser B.C.J.M. Human recombinant follicle-stimulating hormone induces growth of preovulatory follicles without concomitant increase in androgen and estrogen biosynthesis in a woman with isolated gonadotropin deficiency. J Clin Endocrinol Metab. 74:1992;1471-1473.
    • (1992) J Clin Endocrinol Metab , vol.74 , pp. 1471-1473
    • Schoot, D.C.1    Coelingh-Bennink, H.J.T.2    Mannaerts, B.M.J.L.3    Lamberts, S.W.J.4    Bouchard, P.5    Fauser, B.C.J.M.6
  • 21
    • 0027511588 scopus 로고
    • Induction of follicular growth using recombinant human follicle-stimulating hormone in two volunteer women with hypogonadotropic hypogonadism
    • Shoham Z., Mannaerts B., Insler V., Coelingh-Bennink H. Induction of follicular growth using recombinant human follicle-stimulating hormone in two volunteer women with hypogonadotropic hypogonadism. Fertil Steril. 59:1993;738-742.
    • (1993) Fertil Steril , vol.59 , pp. 738-742
    • Shoham, Z.1    Mannaerts, B.2    Insler, V.3    Coelingh-Bennink, H.4
  • 22
    • 0018547573 scopus 로고
    • The production of progesterone, androgens, and estrogens by granulosa cells, thecal tissue, and stromal tissue from human ovaries in vitro
    • McNatty K.P., Makris A., DeGrazia C., Osathanondh R., Ryan K.J. The production of progesterone, androgens, and estrogens by granulosa cells, thecal tissue, and stromal tissue from human ovaries in vitro. J Clin Endocrinol Metab. 49:1979;687-699.
    • (1979) J Clin Endocrinol Metab , vol.49 , pp. 687-699
    • McNatty, K.P.1    Makris, A.2    Degrazia, C.3    Osathanondh, R.4    Ryan, K.J.5
  • 23
    • 0027372340 scopus 로고
    • A constitutively activating mutation of the luteinizing receptor in familial male precocious puberty
    • Shenker A., Laue L., Kosugi S., Merendino J.J., Minegishi T., Cutler G.B. A constitutively activating mutation of the luteinizing receptor in familial male precocious puberty. Nature. 365:1993;652-654.
    • (1993) Nature , vol.365 , pp. 652-654
    • Shenker, A.1    Laue, L.2    Kosugi, S.3    Merendino, J.J.4    Minegishi, T.5    Cutler, G.B.6
  • 24
    • 0029150958 scopus 로고
    • A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty
    • Latronico A.C., Anasti J., Arnhold I.J.P., Mendonca B.B., Domenice S., Albano M.C., et al. A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty. J Clin Endocrinol Metab. 80:1995;2490-2494.
    • (1995) J Clin Endocrinol Metab , vol.80 , pp. 2490-2494
    • Latronico, A.C.1    Anasti, J.2    Arnhold, I.J.P.3    Mendonca, B.B.4    Domenice, S.5    Albano, M.C.6
  • 25
    • 0028944310 scopus 로고
    • Genetic heterogeneity of constitutively activating mutation of the human luteinizing hormone receptor in familial male-limited precocious puberty
    • Laue L., Chan W.Y., Hsueh A.J.W., Kudo M., Hsu S.Y., Wu S.M., et al. Genetic heterogeneity of constitutively activating mutation of the human luteinizing hormone receptor in familial male-limited precocious puberty. Proc Natl Acad Sci USA. 92:1995;1906-1910.
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 1906-1910
    • Laue, L.1    Chan, W.Y.2    Hsueh, A.J.W.3    Kudo, M.4    Hsu, S.Y.5    Wu, S.M.6
  • 26
    • 0029840021 scopus 로고    scopus 로고
    • Response to challenge with gonadotropin-releasing hormone agonist in a mother and her two sons with a constitutively activating mutation of the luteinizing hormone receptor: A clinical research center study
    • Rosenthal I.M., Refetoff S., Rich B., Barnes R.B., Sunthornthepvarakul T., Parma J., et al. Response to challenge with gonadotropin-releasing hormone agonist in a mother and her two sons with a constitutively activating mutation of the luteinizing hormone receptor a clinical research center study . J Clin Endocrinol Metab. 81:1996;3802-3806.
    • (1996) J Clin Endocrinol Metab , vol.81 , pp. 3802-3806
    • Rosenthal, I.M.1    Refetoff, S.2    Rich, B.3    Barnes, R.B.4    Sunthornthepvarakul, T.5    Parma, J.6
  • 27
    • 0019721244 scopus 로고
    • Human chorionic gonadotropin-secreting pineal tumor: Relation to pathogenesis and sex limitation of sexual precocity
    • Sklar C.A., Conte F.A., Kaplan S.L., Grumbach M.M. Human chorionic gonadotropin-secreting pineal tumor relation to pathogenesis and sex limitation of sexual precocity . J Clin Endocrinol Metab. 53:1981;656-660.
    • (1981) J Clin Endocrinol Metab , vol.53 , pp. 656-660
    • Sklar, C.A.1    Conte, F.A.2    Kaplan, S.L.3    Grumbach, M.M.4
  • 28
    • 0029118115 scopus 로고
    • Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure
    • Aittomäki K., Lucena J.L.D., Pakarinen P., Sistonen P., Tapanainen J., Gromoll J., et al. Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell. 82:1995;959-968.
    • (1995) Cell , vol.82 , pp. 959-968
    • Aittomäki, K.1    Lucena, J.L.D.2    Pakarinen, P.3    Sistonen, P.4    Tapanainen, J.5    Gromoll, J.6
  • 29
    • 0029838761 scopus 로고    scopus 로고
    • Clinical features of primary ovarian failure caused by a point mutation in the follicle-stimulating hormone receptor gene
    • Aittomäki K., Herva R., Stenman U.-H., Juntunen K., Ylöstalo P., Hovatta O., et al. Clinical features of primary ovarian failure caused by a point mutation in the follicle-stimulating hormone receptor gene. J Clin Endocrinol Metab. 81:1996;3722-3726.
    • (1996) J Clin Endocrinol Metab , vol.81 , pp. 3722-3726
    • Aittomäki, K.1    Herva, R.2    Stenman, U.-H.3    Juntunen, K.4    Ylöstalo, P.5    Hovatta, O.6
  • 30
    • 0031688627 scopus 로고    scopus 로고
    • No evidence of the inactivating mutation (C566T) in the follicle-stimulating hormone receptor gene in Brazilian women with premature ovarian failure
    • Kohek M.B.F., Batista M.C., Russel A.J., Vass K., Giacaglia L.R., Mendonca B.B., et al. No evidence of the inactivating mutation (C566T) in the follicle-stimulating hormone receptor gene in Brazilian women with premature ovarian failure. Fertil Steril. 70:1998;565-567.
    • (1998) Fertil Steril , vol.70 , pp. 565-567
    • Kohek, M.B.F.1    Batista, M.C.2    Russel, A.J.3    Vass, K.4    Giacaglia, L.R.5    Mendonca, B.B.6
  • 31
    • 1842376911 scopus 로고    scopus 로고
    • Men homozygous for an inactivating mutation of the follicle-stimulating hormone (FSH) receptor gene present variable suppression of spermatogenesis and fertility
    • Tapanainen J., Aittomäki K., Min J., Vaskivuo T., Huhtaniemi I. Men homozygous for an inactivating mutation of the follicle-stimulating hormone (FSH) receptor gene present variable suppression of spermatogenesis and fertility. Nat Genet. 15:1997;205-206.
    • (1997) Nat Genet , vol.15 , pp. 205-206
    • Tapanainen, J.1    Aittomäki, K.2    Min, J.3    Vaskivuo, T.4    Huhtaniemi, I.5
  • 32
    • 0029913238 scopus 로고    scopus 로고
    • An activating mutation of the follicle-stimulating hormone receptor autonomously sustains spermatogenesis in a hypophysectomized man
    • Gromoll J., Simoni M., Nieschlag E. An activating mutation of the follicle-stimulating hormone receptor autonomously sustains spermatogenesis in a hypophysectomized man. J Clin Endocrinol Metab. 81:1996;1367-1370.
    • (1996) J Clin Endocrinol Metab , vol.81 , pp. 1367-1370
    • Gromoll, J.1    Simoni, M.2    Nieschlag, E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.