메뉴 건너뛰기




Volumn 98, Issue 4, 1996, Pages 1055-1062

Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: Evidence that DAX-1 mutations lead to combined hypothalamic and pituitary defects in gonadotropin production

Author keywords

adrenal gland; DAX 1; gene mutation; GnRH; gonadotropins; hypogonadotropic hypogonadism

Indexed keywords

FOLLITROPIN; GONADORELIN; LUTEINIZING HORMONE;

EID: 0029809471     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI118866     Document Type: Article
Times cited : (238)

References (48)
  • 1
    • 0014367648 scopus 로고
    • Familial congenital adrenal hypoplasia
    • Uttley, W.S. 1968. Familial congenital adrenal hypoplasia. Arch. Dis. Childhood. 43:724-730.
    • (1968) Arch. Dis. Childhood , vol.43 , pp. 724-730
    • Uttley, W.S.1
  • 3
    • 0019517931 scopus 로고
    • Familial cytomegalic adrenocortical hypoplasia: An X-linked syndrome of pubertal failure
    • Hay, I.D., P.J. Smail, and C.C. Forsyth. 1981. Familial cytomegalic adrenocortical hypoplasia: an X-linked syndrome of pubertal failure. Arch. Dis. Child. 56:715-721.
    • (1981) Arch. Dis. Child. , vol.56 , pp. 715-721
    • Hay, I.D.1    Smail, P.J.2    Forsyth, C.C.3
  • 5
    • 0016639702 scopus 로고
    • Luteinizing hormone deficiency in hereditary congenital adrenal hypoplasia
    • Prader, A., M. Zachmann, and R. Illig. 1975. Luteinizing hormone deficiency in hereditary congenital adrenal hypoplasia. J. Pediatr. 86:421-422.
    • (1975) J. Pediatr. , vol.86 , pp. 421-422
    • Prader, A.1    Zachmann, M.2    Illig, R.3
  • 6
    • 0017541068 scopus 로고
    • Congenital adrenal hypoplasia and hypogonadotropic hypogonadism
    • Golden, M.P., B.M. Lippe, and S.A. Kaplan. 1977. Congenital adrenal hypoplasia and hypogonadotropic hypogonadism. Am. J. Dis. Child. 131:1117-1118.
    • (1977) Am. J. Dis. Child. , vol.131 , pp. 1117-1118
    • Golden, M.P.1    Lippe, B.M.2    Kaplan, S.A.3
  • 7
    • 0018873091 scopus 로고
    • Gonadotropin deficiency and cryptorchidism in three prepubertal brothers with congenital adrenal hypoplasia
    • Zachmann, M., R. Illig, and A. Prader. 1980. Gonadotropin deficiency and cryptorchidism in three prepubertal brothers with congenital adrenal hypoplasia. J. Pediatr. 97:255-257.
    • (1980) J. Pediatr. , vol.97 , pp. 255-257
    • Zachmann, M.1    Illig, R.2    Prader, A.3
  • 8
    • 0017646937 scopus 로고
    • Gonadotrophin deficiency and adrenocortical insufficiency in children: A new syndrome
    • Kelly, W.F., G.F. Joplin, and G.W. Pearson. 1977. Gonadotrophin deficiency and adrenocortical insufficiency in children: a new syndrome. Br. Med. J. 2:98.
    • (1977) Br. Med. J. , vol.2 , pp. 98
    • Kelly, W.F.1    Joplin, G.F.2    Pearson, G.W.3
  • 9
    • 0025895516 scopus 로고
    • Congenital adrenal hypoplasia and isolated gonadotropin deficiency
    • Kletter, G.B., J.L. Gorski, and R.P. Kelch. 1991. Congenital adrenal hypoplasia and isolated gonadotropin deficiency. Trends Endocrinol. Metab. 2: 123-128.
    • (1991) Trends Endocrinol. Metab. , vol.2 , pp. 123-128
    • Kletter, G.B.1    Gorski, J.L.2    Kelch, R.P.3
  • 10
    • 0021741548 scopus 로고
    • Contrasting effects of subcutaneous pulsatile GnRH therapy in congenital adrenal hypoplasia and Kallmann's syndrome
    • Gordon, D., H.N. Cohen, G.H. Beastall, I.D. Hay, and J.A. Thomson. 1984. Contrasting effects of subcutaneous pulsatile GnRH therapy in congenital adrenal hypoplasia and Kallmann's syndrome. Clin. Endocrinol. 21:597-603.
    • (1984) Clin. Endocrinol. , vol.21 , pp. 597-603
    • Gordon, D.1    Cohen, H.N.2    Beastall, G.H.3    Hay, I.D.4    Thomson, J.A.5
  • 11
    • 0023233197 scopus 로고
    • Failure to induce puberty in a man with X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism by pulsatile administration of low-dose gonadotropin-releasing hormone
    • Kikuchi, K., M. Kaji, T. Momoi, H. Mikawa, Y. Shigematsu, and M. Sudo. 1987. Failure to induce puberty in a man with X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism by pulsatile administration of low-dose gonadotropin-releasing hormone. Acta Endocrinol. 114:153-160.
    • (1987) Acta Endocrinol. , vol.114 , pp. 153-160
    • Kikuchi, K.1    Kaji, M.2    Momoi, T.3    Mikawa, H.4    Shigematsu, Y.5    Sudo, M.6
  • 12
    • 0023968754 scopus 로고
    • Lack of gonadotropic response to pulsatile gonadotropin-releasing hormone in isolated hypogonadotropic hypogonadism associated to congenital adrenal hypoplasia
    • Bovet, P., M.J. Reymond, F. Rey, and F. Gomez. 1988. Lack of gonadotropic response to pulsatile gonadotropin-releasing hormone in isolated hypogonadotropic hypogonadism associated to congenital adrenal hypoplasia. J. Endocrinol. Invest. 11:201-204.
    • (1988) J. Endocrinol. Invest. , vol.11 , pp. 201-204
    • Bovet, P.1    Reymond, M.J.2    Rey, F.3    Gomez, F.4
  • 13
    • 0021365769 scopus 로고
    • Hypogonadism in congenital adrenal hypoplasia: Evidence for a hypothalamic origin
    • Kruse, K., W.G. Sippell, and K.V. Schnakenburg. 1984. Hypogonadism in congenital adrenal hypoplasia: evidence for a hypothalamic origin. J. Clin. Endocrinol. & Metab. 58:12-17.
    • (1984) J. Clin. Endocrinol. & Metab. , vol.58 , pp. 12-17
    • Kruse, K.1    Sippell, W.G.2    Schnakenburg, K.V.3
  • 14
    • 0024350089 scopus 로고
    • Hypothalamic hypogonadism in congenital adrenal hypoplasia
    • Partsch, C.J., and W.G. Sippell. 1989. Hypothalamic hypogonadism in congenital adrenal hypoplasia. Horm. Metab. Res. 21:623-625.
    • (1989) Horm. Metab. Res. , vol.21 , pp. 623-625
    • Partsch, C.J.1    Sippell, W.G.2
  • 17
    • 0019949561 scopus 로고
    • Concordance of X-linked glycerol kinase deficiency with X-linked congenital adrenal hypoplasia
    • Bartley, J.A., D.K. Miller, J.T. Hayford, and E.R. McCabe. 1982. Concordance of X-linked glycerol kinase deficiency with X-linked congenital adrenal hypoplasia. Lancet. 2:733-736.
    • (1982) Lancet , vol.2 , pp. 733-736
    • Bartley, J.A.1    Miller, D.K.2    Hayford, J.T.3    McCabe, E.R.4
  • 20
    • 0015868425 scopus 로고
    • Episodic luteinizing hormone secretion in man. Pulse analysis, clinical interpretation, physiologic mechanisms
    • Santen, R.J., and C.W. Bardin. 1973. Episodic luteinizing hormone secretion in man. Pulse analysis, clinical interpretation, physiologic mechanisms. J. Clin. Invest. 52:2617-2628.
    • (1973) J. Clin. Invest. , vol.52 , pp. 2617-2628
    • Santen, R.J.1    Bardin, C.W.2
  • 21
    • 0025139096 scopus 로고
    • Clinical review 4: Diagnosis and treatment of isolated gonadotropin-releasing hormone deficiency in men
    • Whitcomb, R.W., and W.F. Crowley. 1990. Clinical review 4: diagnosis and treatment of isolated gonadotropin-releasing hormone deficiency in men. J. Clin. Endocrinol. Metab. 70:3-7.
    • (1990) J. Clin. Endocrinol. Metab. , vol.70 , pp. 3-7
    • Whitcomb, R.W.1    Crowley, W.F.2
  • 23
    • 0026571797 scopus 로고
    • Hypothalamic gonadotropin-releasing hormone secretion and follicle-stimulating hormone dynamics during the luteal-follicular transition
    • Hall, J.E., D.A. Schoenfeld, K.A. Martin, and W.F. Crowley, Jr. 1992. Hypothalamic gonadotropin-releasing hormone secretion and follicle-stimulating hormone dynamics during the luteal-follicular transition. J. Clin. Endotrinol. & Metab. 74:600-607.
    • (1992) J. Clin. Endotrinol. & Metab. , vol.74 , pp. 600-607
    • Hall, J.E.1    Schoenfeld, D.A.2    Martin, K.A.3    Crowley Jr., W.F.4
  • 24
    • 0028335136 scopus 로고
    • A comparison of 13 different immunometric assay kits for gonadotropins: Implications for clinical investigation
    • Taylor, A.E., R.H. Khoury, and W.F. Crowley, Jr. 1994. A comparison of 13 different immunometric assay kits for gonadotropins: implications for clinical investigation. J. Clin. Endocrinol. & Metab. 79:240-247.
    • (1994) J. Clin. Endocrinol. & Metab. , vol.79 , pp. 240-247
    • Taylor, A.E.1    Khoury, R.H.2    Crowley Jr., W.F.3
  • 25
    • 0023719908 scopus 로고
    • Improved measurement of free alpha subunit of glycoprotein hormones by assay with use of a monoclonal antibody
    • Whitcomb, R.W., J.S. Sangha, A.L. Schneyer, and W.F. Crowley, Jr. 1989. Improved measurement of free alpha subunit of glycoprotein hormones by assay with use of a monoclonal antibody. Clin. Chem. 34:2022-2025.
    • (1989) Clin. Chem. , vol.34 , pp. 2022-2025
    • Whitcomb, R.W.1    Sangha, J.S.2    Schneyer, A.L.3    Crowley Jr., W.F.4
  • 26
    • 0025376242 scopus 로고
    • Utility of free alpha-subunit as an alternative neuroendocrine marker of gonadotropin-releasing hormone (GnRH) stimulation of the gonadotroph in the human: Evidence from normal and GnRH-deficient men
    • Whitcomb, R.W., L.S. O'Dea, J.S. Finkelstein, D.M. Heavern, and W.F. Crowley, Jr. 1990. Utility of free alpha-subunit as an alternative neuroendocrine marker of gonadotropin-releasing hormone (GnRH) stimulation of the gonadotroph in the human: evidence from normal and GnRH-deficient men. J. Clin. Endocrinol. & Metab. 70:1654-1661.
    • (1990) J. Clin. Endocrinol. & Metab. , vol.70 , pp. 1654-1661
    • Whitcomb, R.W.1    O'Dea, L.S.2    Finkelstein, J.S.3    Heavern, D.M.4    Crowley Jr., W.F.5
  • 31
    • 0029562554 scopus 로고
    • The RXR heterodimers and orphan receptors
    • Mangelsdorf, D.J., and R.M. Evans. 1995. The RXR heterodimers and orphan receptors. Cell. 83:841-850.
    • (1995) Cell , vol.83 , pp. 841-850
    • Mangelsdorf, D.J.1    Evans, R.M.2
  • 32
    • 0028303959 scopus 로고
    • A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation
    • Luo, X., Y. Ikeda, and K.L. Parker. 1994. A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation. Cell. 77:481-490.
    • (1994) Cell , vol.77 , pp. 481-490
    • Luo, X.1    Ikeda, Y.2    Parker, K.L.3
  • 33
    • 0028980486 scopus 로고
    • Steroidogenic factor 1 is the essential transcript of the mouse Ftz-Fl gene
    • Luo, X., Y. Ikeda, D.A. Schlosser, and K.L. Parker. 1995. Steroidogenic factor 1 is the essential transcript of the mouse Ftz-Fl gene. Mol. Endocrinol. 9: 1233-1239.
    • (1995) Mol. Endocrinol. , vol.9 , pp. 1233-1239
    • Luo, X.1    Ikeda, Y.2    Schlosser, D.A.3    Parker, K.L.4
  • 34
    • 0028875430 scopus 로고
    • Mice deficient in the orphan receptor steroidogenic factor 1 lack adrenal glands and gonads but express P450 side-chain-cleavage enzyme in the placenta and have normal embryonic serum levels of corticosteroids
    • Sadovsky, Y., P.A. Crawford, K.G. Woodson, J.A. Polish, M.A. Clements, L.M. Tourtellotte, Simburger, and J. Milbrandt. 1995. Mice deficient in the orphan receptor steroidogenic factor 1 lack adrenal glands and gonads but express P450 side-chain-cleavage enzyme in the placenta and have normal embryonic serum levels of corticosteroids. Proc. Natl. Acad. Sci. USA. 92:10939-10943.
    • (1995) Proc. Natl. Acad. Sci. USA , vol.92 , pp. 10939-10943
    • Sadovsky, Y.1    Crawford, P.A.2    Woodson, K.G.3    Polish, J.A.4    Clements, M.A.5    Tourtellotte, L.M.6    Simburger7    Milbrandt, J.8
  • 35
    • 0027537016 scopus 로고
    • Ad4BP regulating steroidogenic P-450 gene is a member of steroid hormone receptor superfamily
    • Honda, S., K. Morohashi, M. Nomura, H. Takeya, M. Kitajima, and T. Omura. 1993. Ad4BP regulating steroidogenic P-450 gene is a member of steroid hormone receptor superfamily. J. Biol. Chem. 268:7494-7502.
    • (1993) J. Biol. Chem. , vol.268 , pp. 7494-7502
    • Honda, S.1    Morohashi, K.2    Nomura, M.3    Takeya, H.4    Kitajima, M.5    Omura, T.6
  • 36
    • 0026665062 scopus 로고
    • Steroidogenic factor 1, a key regulator of steroidogenic enzyme expression, is the mouse homolog of fushi tarazu-factor 1
    • Lala, D.S., D.A. Rice, and K.L. Parker. 1992. Steroidogenic factor 1, a key regulator of steroidogenic enzyme expression, is the mouse homolog of fushi tarazu-factor 1. Mol. Endocrinol. 6:1249-1258.
    • (1992) Mol. Endocrinol. , vol.6 , pp. 1249-1258
    • Lala, D.S.1    Rice, D.A.2    Parker, K.L.3
  • 38
    • 0028959656 scopus 로고
    • The nuclear factor steroidogenic factor 1 is essential for the formation of the ventromedial hypothalamic nucleus
    • Ikeda, Y., X. Luo, R. Abbud, J.H. Nilson, and K.L. Parker. 1995. The nuclear factor steroidogenic factor 1 is essential for the formation of the ventromedial hypothalamic nucleus. Mol. Endocrinol. 9:478-486.
    • (1995) Mol. Endocrinol. , vol.9 , pp. 478-486
    • Ikeda, Y.1    Luo, X.2    Abbud, R.3    Nilson, J.H.4    Parker, K.L.5
  • 39
    • 0028365295 scopus 로고
    • The orphan nuclear receptor, steroidogenic factor-1, regulates the glycoprotein hormone alpha-subunit gene in pituitary gonadotropes
    • Barnhart, K.M., and P.L. Mellon. 1994. The orphan nuclear receptor, steroidogenic factor-1, regulates the glycoprotein hormone alpha-subunit gene in pituitary gonadotropes. Mol. Endocrinal. 8:878-885.
    • (1994) Mol. Endocrinal. , vol.8 , pp. 878-885
    • Barnhart, K.M.1    Mellon, P.L.2
  • 41
    • 0028818621 scopus 로고
    • Expression of DAX-1, the gene responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism, in the hypothalamic-pituitary-adrenal/gonadal axis
    • Guo, W., T.P. Burris, and E.R. McCabe. 1995. Expression of DAX-1, the gene responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism, in the hypothalamic-pituitary-adrenal/gonadal axis. Biochem. Mol. Med. 56:8-13.
    • (1995) Biochem. Mol. Med. , vol.56 , pp. 8-13
    • Guo, W.1    Burris, T.P.2    McCabe, E.R.3
  • 44
    • 0021776948 scopus 로고
    • The physiology of gonadotropin-releasing hormone (GnRH) secretion in men and women
    • Crowley, W.F., M. Filicori, D.I. Spratt, and N.F. Santoro. 1985. The physiology of gonadotropin-releasing hormone (GnRH) secretion in men and women. Recent Prog. Horm. Res. 41:473-531.
    • (1985) Recent Prog. Horm. Res. , vol.41 , pp. 473-531
    • Crowley, W.F.1    Filicori, M.2    Spratt, D.I.3    Santoro, N.F.4
  • 45
    • 0022918970 scopus 로고
    • Gonadotropin-releasing hormone: Role of pulsatile secretion in the regulation of reproduction
    • Marshall, J.C., and R.P. Kelch. 1986. Gonadotropin-releasing hormone: role of pulsatile secretion in the regulation of reproduction. N. Engl. J. Med. 315:1459-1468.
    • (1986) N. Engl. J. Med. , vol.315 , pp. 1459-1468
    • Marshall, J.C.1    Kelch, R.P.2
  • 46
    • 0019982706 scopus 로고
    • X-linked congenital adrenal hypoplasia. A study of five generations of a Greenlandic Family
    • Petersen, K.E., T. Bille, B.B. Jacobsen, and T. Iversen. 1982. X-linked congenital adrenal hypoplasia. A study of five generations of a Greenlandic Family. Acta. Paediatr. Scand. 71:947-951.
    • (1982) Acta. Paediatr. Scand. , vol.71 , pp. 947-951
    • Petersen, K.E.1    Bille, T.2    Jacobsen, B.B.3    Iversen, T.4
  • 47
    • 0021928235 scopus 로고
    • Decreased receptor binding of biologically inactive thyrotropin in central hypothyroidism. Effect of treatment with thyrotropin-releasing hormone
    • Beck-Peccoz, P., S. Amr, M.M. Menezes-Ferreira, G. Faglia, and B.D. Weintraub. 1985. Decreased receptor binding of biologically inactive thyrotropin in central hypothyroidism. Effect of treatment with thyrotropin-releasing hormone. N. Engl. J. Med. 312:1085-1090.
    • (1985) N. Engl. J. Med. , vol.312 , pp. 1085-1090
    • Beck-Peccoz, P.1    Amr, S.2    Menezes-Ferreira, M.M.3    Faglia, G.4    Weintraub, B.D.5
  • 48
    • 0026025792 scopus 로고
    • Lutropin/choriogonadotropin down-regulates its receptor by both receptor-mediated endocytosis and a cAMP-dependent reduction in receptor mRNA
    • Wang, H., D.L. Segaloff, and M. Ascoli. 1991. Lutropin/choriogonadotropin down-regulates its receptor by both receptor-mediated endocytosis and a cAMP-dependent reduction in receptor mRNA. J. Biol. Chem. 266:780-785.
    • (1991) J. Biol. Chem. , vol.266 , pp. 780-785
    • Wang, H.1    Segaloff, D.L.2    Ascoli, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.