메뉴 건너뛰기




Volumn , Issue , 2010, Pages 213-238

Evaluation of Disordered Puberty

Author keywords

Anti M llerian hormone (AMH) and same transforming growth factor; Dehydroepiandrosterone and androstenedione increasing concentration; Evaluation of disordered puberty; Genetic factors in onset of puberty; Hypogonadotropic hypogonadism absence of spontaneous pubertal development; McCune Albright syndrome (MAS) multisystem disorder, classic triad of irregularly edged hyperpigmented macules

Indexed keywords


EID: 84886055323     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1002/9781444316728.ch10     Document Type: Chapter
Times cited : (8)

References (149)
  • 1
    • 0002964154 scopus 로고    scopus 로고
    • Puberty, ontogeny, neuroendocrinology, physiology, and disorders
    • In: Wilson JD, Foster DW, Kronenberg MD, Larsen PR, 9th edn. Philadelphia: WB Saunders
    • Grumbach MM, Styne DM. Puberty, ontogeny, neuroendocrinology, physiology, and disorders. In: Wilson JD, Foster DW, Kronenberg MD, Larsen PR, eds. Williams Textbook of Endocrinology, 9th edn. Philadelphia: WB Saunders; 1998: 1509-1625.
    • (1998) Williams Textbook of Endocrinology , pp. 1509-1625
    • Grumbach, M.M.1    Styne, D.M.2
  • 2
    • 0015791907 scopus 로고
    • The trend toward earlier menarche in London, Oslo, Copenhagen, the Netherlands and Hungary
    • Tanner JM. The trend toward earlier menarche in London, Oslo, Copenhagen, the Netherlands and Hungary. Nature 1973; 243: 95.
    • (1973) Nature , vol.243 , pp. 95
    • Tanner, J.M.1
  • 3
    • 0142248155 scopus 로고    scopus 로고
    • The timing of normal puberty and the age limits of sexual precocity: variations around the world, secular trends and changes after migration
    • Parent A-S, Teilmann G, Juul A, Skakkebaek NE, Toppari J, Bourguignon J-P. The timing of normal puberty and the age limits of sexual precocity: variations around the world, secular trends and changes after migration. Endocrine Rev 2003; 24: 668-693.
    • (2003) Endocrine Rev , vol.24 , pp. 668-693
    • Parent, A.-S.1    Teilmann, G.2    Juul, A.3    Skakkebaek, N.E.4    Toppari, J.5    Bourguignon, J-P.6
  • 4
    • 0000733429 scopus 로고
    • Population differences in growth: environmental and genetic factors
    • In: Falkner F, Tanner JM, New York: Plenum Press
    • Evelith PB. Population differences in growth: environmental and genetic factors. In: Falkner F, Tanner JM, eds. Human Growth. New York: Plenum Press, 1979: 373-394.
    • (1979) Human Growth , pp. 373-394
    • Evelith, P.B.1
  • 6
    • 0018343872 scopus 로고
    • The association of obesity with infertility and related menstrual abnormalities in women
    • Hartz AJ, Barboriak PN, Wong A. The association of obesity with infertility and related menstrual abnormalities in women. Int J Obes 1979; 3: 5773.
    • (1979) Int J Obes , vol.3 , pp. 5773
    • Hartz, A.J.1    Barboriak, P.N.2    Wong, A.3
  • 7
    • 0015609322 scopus 로고
    • Examination of the hypothesis of a critical weight at menarche in ambulatory and bedridden mentally retarded girls
    • Osler DC, Crawford JD. Examination of the hypothesis of a critical weight at menarche in ambulatory and bedridden mentally retarded girls. Pediatrics 1973; 51: 674-679.
    • (1973) Pediatrics , vol.51 , pp. 674-679
    • Osler, D.C.1    Crawford, J.D.2
  • 8
    • 0028215195 scopus 로고
    • Secular changes in growth of Japanese children
    • Takaishi, M. Secular changes in growth of Japanese children. J Pediatr Endocrinol 1994; 7: 163-173.
    • (1994) J Pediatr Endocrinol , vol.7 , pp. 163-173
    • Takaishi, M.1
  • 9
    • 33644612183 scopus 로고    scopus 로고
    • Childhood overweight and maturational timing in the development of adult overweight and fatness: the Newton Girls Study and its follow-up
    • Must A, Naumova EN, Phillips SM, Blum M, Dawson-Hughes B, Rand WM. Childhood overweight and maturational timing in the development of adult overweight and fatness: the Newton Girls Study and its follow-up. Pediatrics 2005; 116: 620-627.
    • (2005) Pediatrics , vol.116 , pp. 620-627
    • Must, A.1    Naumova, E.N.2    Phillips, S.M.3    Blum, M.4    Dawson-hughes, B.5    Rand, W.M.6
  • 10
    • 24144479493 scopus 로고    scopus 로고
    • Onset of breast and pubic hair development in 1231 preadolescent Lithuanian schoolgirls
    • Zukauskaite S, Lasiene D, Lasas L, Urbonaite B, Hindmarsh P. Onset of breast and pubic hair development in 1231 preadolescent Lithuanian schoolgirls. Arch Dis Child 2005; 90: 932-936.
    • (2005) Arch Dis Child , vol.90 , pp. 932-936
    • Zukauskaite, S.1    Lasiene, D.2    Lasas, L.3    Urbonaite, B.4    Hindmarsh, P.5
  • 13
    • 0031227573 scopus 로고    scopus 로고
    • Cross-sectional growth study of the child and adolescent population of Catalonia (Spain)
    • de la Puente ML, Canela J, Alvarez J, Salleras L, Vicens-Calvet E. Cross-sectional growth study of the child and adolescent population of Catalonia (Spain). Ann Hum Biol 1997; 24: 435-452.
    • (1997) Ann Hum Biol , vol.24 , pp. 435-452
    • de la Puente, M.L.1    Canela, J.2    Alvarez, J.3    Salleras, L.4    Vicens-calvet, E.5
  • 14
    • 0014524644 scopus 로고
    • Variations in pattern of pubertal changes in girls
    • Marshall WA, Tanner JM. Variations in pattern of pubertal changes in girls. Arch Dis Child 1969; 44: 291-303.
    • (1969) Arch Dis Child , vol.44 , pp. 291-303
    • Marshall, W.A.1    Tanner, J.M.2
  • 15
    • 0014736650 scopus 로고
    • Variations in the pattern of pubertal changes in boys
    • Marshall WA, Tanner JM. Variations in the pattern of pubertal changes in boys. Arch Dis Child 1970; 45: 13-23.
    • (1970) Arch Dis Child , vol.45 , pp. 13-23
    • Marshall, W.A.1    Tanner, J.M.2
  • 16
    • 0000089587 scopus 로고    scopus 로고
    • A quantitative and cytological study of germ cells in human ovaries
    • Baker TG. A quantitative and cytological study of germ cells in human ovaries. Proc R Soc Lond B Biol Sci 1999; 158: 417-433.
    • (1999) Proc R Soc Lond B Biol Sci , vol.158 , pp. 417-433
    • Baker, T.G.1
  • 17
    • 2642599389 scopus 로고
    • Follicular development: the life cycle of the follicle and puberty
    • In: Grumbach MM, Sizonenko PC, Aubert MI, Baltimore: Williams & Wilkins
    • Ross GT. Follicular development: the life cycle of the follicle and puberty. In: Grumbach MM, Sizonenko PC, Aubert MI, eds. Control of the Onset of Puberty. Baltimore: Williams & Wilkins, 1990: 376-386.
    • (1990) Control of the Onset of Puberty , pp. 376-386
    • Ross, G.T.1
  • 18
    • 0021811795 scopus 로고
    • Ovarian ultrasound assessment in normal children, idiopathic precocious puberty, and during low dose pulsatile gonadotrophin releasing hormone treatment of hypogonadotrophic hypogonadism
    • Stanhope R, Adams J, Jacobs HS, et al. Ovarian ultrasound assessment in normal children, idiopathic precocious puberty, and during low dose pulsatile gonadotrophin releasing hormone treatment of hypogonadotrophic hypogonadism. Arch Dis Child 1985; 60: 116-119.
    • (1985) Arch Dis Child , vol.60 , pp. 116-119
    • Stanhope, R.1    Adams, J.2    Jacobs, H.S.3
  • 19
    • 0023931914 scopus 로고
    • Pelvic ultrasonography in girls with precocious puberty, congenital adrenal hyperplasia, obesity, or hirsutism
    • Salardi S, Orsini LF, Cacciari E, Partesotti S, Brondelli L, Cicognani A, et al. Pelvic ultrasonography in girls with precocious puberty, congenital adrenal hyperplasia, obesity, or hirsutism. J Pediatr 1988; 112: 880-887.
    • (1988) J Pediatr , vol.112 , pp. 880-887
    • Salardi, S.1    Orsini, L.F.2    Cacciari, E.3    Partesotti, S.4    Brondelli, L.5    Cicognani, A.6
  • 21
    • 0032959167 scopus 로고    scopus 로고
    • Pelvic ultrasonography in Turner syndrome: standards for uterine and ovarian volume
    • Haber HP, Ranke MB. Pelvic ultrasonography in Turner syndrome: standards for uterine and ovarian volume. J Ultrasound Med 1999; 18: 271-276.
    • (1999) J Ultrasound Med , vol.18 , pp. 271-276
    • Haber, H.P.1    Ranke, M.B.2
  • 22
    • 0040038082 scopus 로고
    • Testicular development during puberty
    • In: Grumbach MM, Sizonenko PC, Aubert ML, et al., Baltimore: Williams & Wilkins
    • Gondos B, Kogan SJ. Testicular development during puberty. In: Grumbach MM, Sizonenko PC, Aubert ML, et al., eds. Control of the Onset of Puberty. Baltimore: Williams & Wilkins 1990: 387-402.
    • (1990) Control of the Onset of Puberty , pp. 387-402
    • Gondos, B.1    Kogan, S.J.2
  • 25
    • 34548849816 scopus 로고    scopus 로고
    • Gynecomastia
    • Braunstein GD. Gynecomastia. N Engl J Med 2007; 357: 1229-1237.
    • (2007) N Engl J Med , vol.357 , pp. 1229-1237
    • Braunstein, G.D.1
  • 26
    • 0033305276 scopus 로고    scopus 로고
    • Bone mineral acquisition in healthy Asian, Hispanic, black and Caucaisan youth: a longitudinal study
    • Bachrach LK, Hastie T, Wang M, et al. Bone mineral acquisition in healthy Asian, Hispanic, black and Caucaisan youth: a longitudinal study. J Clin Endocrinol Metab 1999; 84: 4702-4712.
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 4702-4712
    • Bachrach, L.K.1    Hastie, T.2    Wang, M.3
  • 27
  • 28
    • 0031836075 scopus 로고    scopus 로고
    • Nutrition, exercise, and bone status in youth
    • Barr SI, McKay HA. Nutrition, exercise, and bone status in youth. Int J Sport Nutr 1998; 8: 124-142.
    • (1998) Int J Sport Nutr , vol.8 , pp. 124-142
    • Barr, S.I.1    McKay, H.A.2
  • 30
    • 0027202205 scopus 로고
    • Body composition in children and Tanner's stages: a study with dual-energy X-ray absorptiometry
    • Rico H, Revilla M, Villa LF, Hernandez ER, Alvarez de Buergo M, Villa M. Body composition in children and Tanner's stages: a study with dual-energy X-ray absorptiometry. Metabolism 1993; 42: 967-970.
    • (1993) Metabolism , vol.42 , pp. 967-970
    • Rico, H.1    Revilla, M.2    Villa, L.F.3    Hernandez, E.R.4    Alvarez de Buergo, M.5    Villa, M.6
  • 31
    • 4243434162 scopus 로고
    • Body composition, hormones, nutrition and adolescent growth
    • In: Grumbach MM, Grave GD, Mayer FE, New York: John Wiley & Sons
    • Cheek DB. Body composition, hormones, nutrition and adolescent growth. In: Grumbach MM, Grave GD, Mayer FE, eds. Control of the Onset of Puberty. New York: John Wiley & Sons, 1974: 424-447.
    • (1974) Control of the Onset of Puberty , pp. 424-447
    • Cheek, D.B.1
  • 32
    • 0017295638 scopus 로고
    • The adolescent growth spurt of boys and girls of the Harpenden growth study
    • Tanner JM, Whitehouse RH, Marubini E, Resele LF. The adolescent growth spurt of boys and girls of the Harpenden growth study. Ann Hum Biol 1976; 3: 109-126.
    • (1976) Ann Hum Biol , vol.3 , pp. 109-126
    • Tanner, J.M.1    Whitehouse, R.H.2    Marubini, E.3    Resele, L.F.4
  • 33
    • 0018168927 scopus 로고
    • Analysis of the adolescent growth spurt using smoothing spline functions
    • Largo RH, Gasser TH, Prader A. Analysis of the adolescent growth spurt using smoothing spline functions. Ann Hum Biol 1978; 5: 421-434.
    • (1978) Ann Hum Biol , vol.5 , pp. 421-434
    • Largo, R.H.1    Gasser, T.H.2    Prader, A.3
  • 34
    • 0024451386 scopus 로고
    • Alterations in the pulsatile properties of circulating growth hormone concentrations during puberty in boys
    • Martha PM Jr, Rogol AD, Veldhuis JD. Alterations in the pulsatile properties of circulating growth hormone concentrations during puberty in boys. J Clin Endocrinol Metab 1989; 69: 563-570.
    • (1989) J Clin Endocrinol Metab , vol.69 , pp. 563-570
    • Martha Jr, P.M.1    Rogol, A.D.2    Veldhuis, J.D.3
  • 35
    • 0030882782 scopus 로고    scopus 로고
    • Estrogen and testosterone, but not a nonaromatizable androgen, direct network integration of the hypothalamosomatotrope (growth hormone)-insulin-like growth factor I axis in the human: evidence from pubertal pathophysiology and sexsteroid hormone replacement
    • Veldhuis JD, Metzger DL, Martha PMJ, Mauras N, Kerrigan JR, Keenan B, et al. Estrogen and testosterone, but not a nonaromatizable androgen, direct network integration of the hypothalamosomatotrope (growth hormone)-insulin-like growth factor I axis in the human: evidence from pubertal pathophysiology and sexsteroid hormone replacement. J Clin Endocrinol Metab 1997; 82: 3414-3420.
    • (1997) J Clin Endocrinol Metab , vol.82 , pp. 3414-3420
    • Veldhuis, J.D.1    Metzger, D.L.2    Martha, P.M.J.3    Mauras, N.4    Kerrigan, J.R.5    Keenan, B.6
  • 36
    • 0028025054 scopus 로고
    • Estrogen receptor blockade with tamoxifen diminishes growth hormone secretion in boys: evidence for a stimulatory role of endogenous estrogens during male adolescence
    • Metzger DL, Kerrigan JR. Estrogen receptor blockade with tamoxifen diminishes growth hormone secretion in boys: evidence for a stimulatory role of endogenous estrogens during male adolescence. J Clin Endocrinol Metab 1994; 79: 513-518.
    • (1994) J Clin Endocrinol Metab , vol.79 , pp. 513-518
    • Metzger, D.L.1    Kerrigan, J.R.2
  • 37
    • 0029799613 scopus 로고    scopus 로고
    • Molecular basis and clinical application of biologic markers of bone turnover
    • Calvo MS, Eyre DR, Gundberg CM. Molecular basis and clinical application of biologic markers of bone turnover. Endocr Rev 1996; 17: 333-368.
    • (1996) Endocr Rev , vol.17 , pp. 333-368
    • Calvo, M.S.1    Eyre, D.R.2    Gundberg, C.M.3
  • 38
    • 0020523393 scopus 로고
    • A preliminary study of the effect of estrogen dose on growth in Turner's syndrome
    • Ross JL, Cassorla FG, Skerda MC, et al. A preliminary study of the effect of estrogen dose on growth in Turner's syndrome. N Engl J Med 1984; 309: 1104-1106.
    • (1984) N Engl J Med , vol.309 , pp. 1104-1106
    • Ross, J.L.1    Cassorla, F.G.2    Skerda, M.C.3
  • 39
    • 0033305733 scopus 로고    scopus 로고
    • Estrogen: consequences and implication of human mutations in synthesis and action
    • Grumbach MM, Auchus RJ. Estrogen: consequences and implication of human mutations in synthesis and action. J Clin Endocrinol Metab 1999; 84: 4677-4643.
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 4677-4643
    • Grumbach, M.M.1    Auchus, R.J.2
  • 40
    • 0031120087 scopus 로고    scopus 로고
    • The role of estrogen in bone growth and maturation during childhood and adolescence
    • Cutler GB. The role of estrogen in bone growth and maturation during childhood and adolescence. J Steroid Biochem Mol Biol 1997; 61: 141-144.
    • (1997) J Steroid Biochem Mol Biol , vol.61 , pp. 141-144
    • Cutler, G.B.1
  • 41
    • 32644439450 scopus 로고    scopus 로고
    • Minireview: the neuroendocrine regulation of puberty -is the time ripe for a systems biology approach
    • Ojeda SR, Lomniczi A, Mastronardi C, et al. Minireview: the neuroendocrine regulation of puberty -is the time ripe for a systems biology approach? Endocrinology 2006; 147: 1166-1174.
    • (2006) Endocrinology , vol.147 , pp. 1166-1174
    • Ojeda, S.R.1    Lomniczi, A.2    Mastronardi, C.3
  • 43
    • 0022610758 scopus 로고
    • Isolation of the gene and hypothalamic cDNA for the common precursor of gonadotropinreleasing hormone and prolactin release-inhibiting factor in human and rat
    • Adelman JP, Mason AJ, Hayflick JS, et al. Isolation of the gene and hypothalamic cDNA for the common precursor of gonadotropinreleasing hormone and prolactin release-inhibiting factor in human and rat. Proc Natl Acad Sci U S A 1986; 83: 179-183.
    • (1986) Proc Natl Acad Sci U S A , vol.83 , pp. 179-183
    • Adelman, J.P.1    Mason, A.J.2    Hayflick, J.S.3
  • 44
    • 0027050857 scopus 로고
    • Biology of normal luteinizing hormone-releasing hormone neurons during and after their migration from olfactory placode
    • Schwanzel-Fukada M, Jorgensen KL, Bergen HT, et al. Biology of normal luteinizing hormone-releasing hormone neurons during and after their migration from olfactory placode. Endocr Rev 1992; 13: 623-634.
    • (1992) Endocr Rev , vol.13 , pp. 623-634
    • Schwanzel-fukada, M.1    Jorgensen, K.L.2    Bergen, H.T.3
  • 45
    • 0031694570 scopus 로고    scopus 로고
    • Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations
    • Seminara SB, Hayes FJ, Crowley WFJ. Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations. Endocr Rev 1999; 19: 521-539.
    • (1999) Endocr Rev , vol.19 , pp. 521-539
    • Seminara, S.B.1    Hayes, F.J.2    Crowley, W.F.J.3
  • 46
    • 0035012698 scopus 로고    scopus 로고
    • The importance of genetic defects in humans in elucidating the complexities of the hypothalamicpituitary-gonadal axis
    • Seminara SB, Crowley WF Jr. The importance of genetic defects in humans in elucidating the complexities of the hypothalamicpituitary-gonadal axis. Endocrinology 2001; 142: 2173-2177.
    • (2001) Endocrinology , vol.142 , pp. 2173-2177
    • Seminara, S.B.1    Crowley Jr, W.F..2
  • 47
    • 33745080316 scopus 로고    scopus 로고
    • The first kiss: a crucial role for kisspeptin-1 and its receptor, G-protein-coupled receptor 54, in puberty and reproduction
    • Seminara SB. The first kiss: a crucial role for kisspeptin-1 and its receptor, G-protein-coupled receptor 54, in puberty and reproduction. Natl Clin Pract Endocrinol Metab 2006; 2: 328-334
    • (2006) Natl Clin Pract Endocrinol Metab , vol.2 , pp. 328-334
    • Seminara, S.B.1
  • 48
    • 0033711033 scopus 로고    scopus 로고
    • Mutations of gonadotropins and gonadotropin receptors: elucidating the physiology and pathophysiology of pituitary-gonadal function
    • Themmen APN, Huhtaniemi IT. Mutations of gonadotropins and gonadotropin receptors: elucidating the physiology and pathophysiology of pituitary-gonadal function. Endocr Rev 2000; 21: 551-583.
    • (2000) Endocr Rev , vol.21 , pp. 551-583
    • Themmen, A.P.N.1    Huhtaniemi, I.T.2
  • 51
    • 15944368215 scopus 로고    scopus 로고
    • Two novel missense mutations in G protein-coupled receptor 54 in a pateint with hypogondotropic hypogonadism
    • Semple RK, Achermann JC, Ellery J, et al. Two novel missense mutations in G protein-coupled receptor 54 in a pateint with hypogondotropic hypogonadism. J Clin Endocrinol Metab 2005; 90: 1849-1855.
    • (2005) J Clin Endocrinol Metab , vol.90 , pp. 1849-1855
    • Semple, R.K.1    Achermann, J.C.2    Ellery, J.3
  • 52
    • 39049168719 scopus 로고    scopus 로고
    • A GPR54-activating mutation in a patient with central precocious puberty
    • Gurgel Teles M, Bianco SDC, Nahime Brito V, et al. A GPR54-activating mutation in a patient with central precocious puberty. N Engl J Med 2008; 358: 709-715.
    • (2008) N Engl J Med , vol.358 , pp. 709-715
    • Gurgel Teles, M.1    Bianco, S.D.C.2    Nahime Brito, V.3
  • 53
    • 30944445420 scopus 로고    scopus 로고
    • Repetitive activation of hypothalamic G protein-coupled receptor 54 with intravenous pulses of kisspeptin in the juvenile monkey (Macaca mulatta) elicits a sustained train of gonadotropin-releasing hormone discharges
    • Plant TM, Ramaswamy S, Dipietro MJ. Repetitive activation of hypothalamic G protein-coupled receptor 54 with intravenous pulses of kisspeptin in the juvenile monkey (Macaca mulatta) elicits a sustained train of gonadotropin-releasing hormone discharges. Endocrinology 2006; 147: 1007-1013.
    • (2006) Endocrinology , vol.147 , pp. 1007-1013
    • Plant, T.M.1    Ramaswamy, S.2    Dipietro, M.J.3
  • 55
    • 0028174383 scopus 로고
    • Gamma-aminobutyric acid is an inhibitory neurotransmitter restricting the release of luteinizing hormone-releasing hormone before the onset of puberty
    • Mitsushima D, Hei DL, Terasawa E. Gamma-aminobutyric acid is an inhibitory neurotransmitter restricting the release of luteinizing hormone-releasing hormone before the onset of puberty. Proc Natl Acad Sci U S A 1994; 91: 395-399.
    • (1994) Proc Natl Acad Sci U S A , vol.91 , pp. 395-399
    • Mitsushima, D.1    Hei, D.L.2    Terasawa, E.3
  • 56
    • 0024117312 scopus 로고
    • Molecular mechanism of gonadotropin releasing hormone (GnRH) action
    • Hazum E, Conn PM. Molecular mechanism of gonadotropin releasing hormone (GnRH) action. I. The GnRH receptor. Endocr Rev 1988; 9: 379-386.
    • (1988) I. The GnRH receptor. Endocr Rev , vol.9 , pp. 379-386
    • Hazum, E.1    Conn, P.M.2
  • 57
    • 0024118096 scopus 로고
    • Molecular mechanisms of gonadotropin releasing hormone action
    • Huckle W, Conn PM. Molecular mechanisms of gonadotropin releasing hormone action. II. The effector system. Endocr Rev 1988; 9: 387-395.
    • (1988) II. The effector system. Endocr Rev , vol.9 , pp. 387-395
    • Huckle, W.1    Conn, P.M.2
  • 59
    • 0032997251 scopus 로고    scopus 로고
    • Mutations in human gonadotropin genes and their physiologic significance in puberty and reproduction
    • Layman LC. Mutations in human gonadotropin genes and their physiologic significance in puberty and reproduction. Fertil Steril 1999; 71: 201-218.
    • (1999) Fertil Steril , vol.71 , pp. 201-218
    • Layman, L.C.1
  • 60
    • 34548313698 scopus 로고    scopus 로고
    • Luteinising hormone beat mutation and hypogonadism in men and women
    • Lofrano-Porto A, Barcelos Barra G, Abdala Giacomini L, et al. Luteinising hormone beat mutation and hypogonadism in men and women. N Engl J Med 2007; 357: 897-904.
    • (2007) N Engl J Med , vol.357 , pp. 897-904
    • Lofrano-porto, A.1    Barcelos Barra, G.2    Abdala Giacomini, L.3
  • 61
    • 0016345845 scopus 로고
    • The absence of positive feedback between estrogen and luteinizing hormone in sexually immature girls
    • Reiter EO, Kulin HE, Hamwood SM. The absence of positive feedback between estrogen and luteinizing hormone in sexually immature girls. Pediatr Res 1974; 8: 740-745.
    • (1974) Pediatr Res , vol.8 , pp. 740-745
    • Reiter, E.O.1    Kulin, H.E.2    Hamwood, S.M.3
  • 62
    • 0021252023 scopus 로고    scopus 로고
    • Neuroendocrine regulation of the corpus luteum in the human
    • Filicori M, Butler JP, Crowley WFJ. Neuroendocrine regulation of the corpus luteum in the human. J Clin Invest 1999; 73: 1638-1647.
    • (1999) J Clin Invest , vol.73 , pp. 1638-1647
    • Filicori, M.1    Butler, J.P.2    Crowley, W.F.J.3
  • 63
    • 0028173882 scopus 로고
    • Steroid 5 a hydroxylase: two genes/two enzymes
    • Russell DW, Wilson JD. Steroid 5 a hydroxylase: two genes/two enzymes. Annu Rev Med 1994; 63: 25-61.
    • (1994) Annu Rev Med , vol.63 , pp. 25-61
    • Russell, D.W.1    Wilson, J.D.2
  • 64
    • 0027261356 scopus 로고
    • Tissue specific and hormonally controlled alternative promoters regulate aromatase cyotchrome P450 gene expression in human adipose tissue
    • Mahendroo MS, Mendelson CR, Simpson ER. Tissue specific and hormonally controlled alternative promoters regulate aromatase cyotchrome P450 gene expression in human adipose tissue. J Biol Chem 1993; 268: 19463-19470.
    • (1993) J Biol Chem , vol.268 , pp. 19463-19470
    • Mahendroo, M.S.1    Mendelson, C.R.2    Simpson, E.R.3
  • 65
    • 0024205612 scopus 로고
    • The human androgen receptor: complementary dexoribonucleic acid cloning, sequence analysis and gene expression in prostate
    • Lubahn DR, Joseph DR, Sar M, et al. The human androgen receptor: complementary dexoribonucleic acid cloning, sequence analysis and gene expression in prostate. Mol Endocrinol 1988; 2: 1265-1275.
    • (1988) Mol Endocrinol , vol.2 , pp. 1265-1275
    • Lubahn, D.R.1    Joseph, D.R.2    Sar, M.3
  • 66
    • 0028007173 scopus 로고
    • Estrogen levels in childhood determined by an ultrasensitive recombinant cell bioassay
    • Klein KO, Baron J, Colli MJ, McDonnell DP, Cutler GB. Estrogen levels in childhood determined by an ultrasensitive recombinant cell bioassay. J Clin Invest 1994; 94: 2475-2480.
    • (1994) J Clin Invest , vol.94 , pp. 2475-2480
    • Klein, K.O.1    Baron, J.2    Colli, M.J.3    McDonnell, D.P.4    Cutler, G.B.5
  • 67
    • 0001757526 scopus 로고
    • Reproductive and other roles of inhibins and activins
    • In: Knobil E, Neil JD, 2nd edn. New York: Raven Press
    • Vale W, Bilezikjian LM, Rivier C. Reproductive and other roles of inhibins and activins. In: Knobil E, Neil JD, eds. Physiology of Reproduction, 2nd edn. New York: Raven Press, 1994: 1861-1878.
    • (1994) Physiology of Reproduction , pp. 1861-1878
    • Vale, W.1    Bilezikjian, L.M.2    Rivier, C.3
  • 68
    • 0031732474 scopus 로고    scopus 로고
    • Longitudinal reproductive hormone profiles in infants: peak of inhibin B levels in infant boys exceeds levels in adult men
    • Andersson AM, Toppari J, Haavisto AM, Petersen JH, Simell T, Simell O, et al. Longitudinal reproductive hormone profiles in infants: peak of inhibin B levels in infant boys exceeds levels in adult men. J Clin Endocrinol Metab 1998; 83: 675-681.
    • (1998) J Clin Endocrinol Metab , vol.83 , pp. 675-681
    • Andersson, A.M.1    Toppari, J.2    Haavisto, A.M.3    Petersen, J.H.4    Simell, T.5    Simell, O.6
  • 69
    • 0025136766 scopus 로고
    • An immunoassay to detect human mullerian inhibiting substance in males and females during normal development
    • Hudson PL, Dougas I, Donahoe PK, et al. An immunoassay to detect human mullerian inhibiting substance in males and females during normal development. J Clin Endocrinol Metab 1990; 70: 16-22.
    • (1990) J Clin Endocrinol Metab , vol.70 , pp. 16-22
    • Hudson, P.L.1    Dougas, I.2    Donahoe, P.K.3
  • 70
    • 0019619008 scopus 로고
    • The neuroendocrine regulation and function of growth hormone and prolactin in the mammalian fetus
    • Gluckman PD, Grumbach MM, Kaplan SL. The neuroendocrine regulation and function of growth hormone and prolactin in the mammalian fetus. Endocr Rev 1981; 2: 363-395.
    • (1981) Endocr Rev , vol.2 , pp. 363-395
    • Gluckman, P.D.1    Grumbach, M.M.2    Kaplan, S.L.3
  • 71
    • 0001856286 scopus 로고
    • Pituitary gonadotropin and sex steroid secretion during the first two years of life
    • In: Grumbach MM, Sizonenko PC, Aubert AU, Baltimore: Williams & Wilkins
    • Forest MG. Pituitary gonadotropin and sex steroid secretion during the first two years of life. In: Grumbach MM, Sizonenko PC, Aubert AU, eds. Control of the Onset of Puberty. Baltimore: Williams & Wilkins, 1990: 451-478.
    • (1990) Control of the Onset of Puberty , pp. 451-478
    • Forest, M.G.1
  • 72
    • 0018841545 scopus 로고
    • Correlation of luteinizing hormone-releasing factor-induced luteinizing hormone and follicle-stimulating hormone release from infancy to 19 years with the changing pattern of gonadotropin secretion in agonadal patients: relation to the restraint of puberty
    • Conte FA, Grumbach MM, Kaplan SL, Reiter EO. Correlation of luteinizing hormone-releasing factor-induced luteinizing hormone and follicle-stimulating hormone release from infancy to 19 years with the changing pattern of gonadotropin secretion in agonadal patients: relation to the restraint of puberty. J Clin Endocrinol Metab 1980; 50: 163-168.
    • (1980) J Clin Endocrinol Metab , vol.50 , pp. 163-168
    • Conte, F.A.1    Grumbach, M.M.2    Kaplan, S.L.3    Reiter, E.O.4
  • 73
    • 0031868971 scopus 로고    scopus 로고
    • Gonadotrophin pulsatility in girls with the Turner syndrome: modulation by exogenous sex steroids
    • Nathwani NC, Hindmarsh PC, Massarano AA, Brook CGD. Gonadotrophin pulsatility in girls with the Turner syndrome: modulation by exogenous sex steroids. Clin Endocrinol 1998; 49: 107-113.
    • (1998) Clin Endocrinol , vol.49 , pp. 107-113
    • Nathwani, N.C.1    Hindmarsh, P.C.2    Massarano, A.A.3    Brook, C.G.D.4
  • 74
    • 0025122001 scopus 로고
    • Gonadal control of pulsatile secretion of luteinizing hormone and follicle-stimulating hormone in prepubertal boys evaluated by ultrasensitive time-resolved immunofluorometric assays
    • Dunkel L, Alfthan H, Stenman U, et al. Gonadal control of pulsatile secretion of luteinizing hormone and follicle-stimulating hormone in prepubertal boys evaluated by ultrasensitive time-resolved immunofluorometric assays. J Clin Endocrinol Metab 1990; 70: 107-114.
    • (1990) J Clin Endocrinol Metab , vol.70 , pp. 107-114
    • Dunkel, L.1    Alfthan, H.2    Stenman, U.3
  • 75
    • 0032948906 scopus 로고    scopus 로고
    • Diurnal rhythms of luteinizing hormone, follicle-stimulating hormone, and testosterone secretion before the onset of male puberty
    • Mitamura R, Yano K, Suzuki N, Ito Y, Makita Y, Okuno A. Diurnal rhythms of luteinizing hormone, follicle-stimulating hormone, and testosterone secretion before the onset of male puberty. J Clin Endocrinol Metab 1999; 84: 29-37.
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 29-37
    • Mitamura, R.1    Yano, K.2    Suzuki, N.3    Ito, Y.4    Makita, Y.5    Okuno, A.6
  • 76
    • 0033575993 scopus 로고    scopus 로고
    • Brief report: effects of recombinant leptin therapy in a child with congeintal leptin defi-ciency
    • Farooqi IS, Jebb SA, Langmack G, et al. Brief report: effects of recombinant leptin therapy in a child with congeintal leptin defi-ciency. N Engl J Med 1999; 341: 879-884.
    • (1999) N Engl J Med , vol.341 , pp. 879-884
    • Farooqi, I.S.1    Jebb, S.A.2    Langmack, G.3
  • 77
    • 0032988738 scopus 로고    scopus 로고
    • Longitudinal study of leptin concentrations during puberty: sex differences and relationship to changes in body composition
    • Ahmed ML, Ong KK, Morrell DJ, Cox L, Drayer N, Perry L, et al. Longitudinal study of leptin concentrations during puberty: sex differences and relationship to changes in body composition. J Clin Endocrinol Metab 1999; 84: 899-905.
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 899-905
    • Ahmed, M.L.1    Ong, K.K.2    Morrell, D.J.3    Cox, L.4    Drayer, N.5    Perry, L.6
  • 78
    • 0031887701 scopus 로고    scopus 로고
    • Plasma leptin in children: relationship to puberty, gender, body composition, insulin sensitivity, and energy expenditure
    • Arslanian S, Suprasongsin C, Kalhan SC, Drash AL, Brna R, Janosky JE. Plasma leptin in children: relationship to puberty, gender, body composition, insulin sensitivity, and energy expenditure. Metab Clin Exp 1998; 47: 309-312.
    • (1998) Metab Clin Exp , vol.47 , pp. 309-312
    • Arslanian, S.1    Suprasongsin, C.2    Kalhan, S.C.3    Drash, A.L.4    Brna, R.5    Janosky, J.E.6
  • 79
    • 0000072602 scopus 로고
    • Clinical disorders of adrenal function and puberty: an assessment of the role of the adrenal cortex in normal and abnormal puberty in man and evidence for an ACTH-like pituitary adrenal androgen stimulating hormone
    • In: James VHT, Serio M, Giusti G, et al., New York: Academic Press
    • Grumbach MM, Richards GE, Conte FA, et al. Clinical disorders of adrenal function and puberty: an assessment of the role of the adrenal cortex in normal and abnormal puberty in man and evidence for an ACTH-like pituitary adrenal androgen stimulating hormone. In: James VHT, Serio M, Giusti G, et al., eds. The Endocrine Function of the Human Adrenal Cortex, Serono Symposium. New York: Academic Press, 1977: 583-612.
    • (1977) The Endocrine Function of the Human Adrenal Cortex, Serono Symposium , pp. 583-612
    • Grumbach, M.M.1    Richards, G.E.2    Conte, F.A.3
  • 80
    • 0019450470 scopus 로고
    • The developmental changes in plasma adrenal androgens during infancy and adrenarche are associated with changing activities of adrenal microsomal 17-hydroxylase and 17,20-desmolase
    • Schiebinger RJ, Albertson BD, Cassorla FG, Bowyer DW, Geelhoed GW, Cutler GB Jr, et al. The developmental changes in plasma adrenal androgens during infancy and adrenarche are associated with changing activities of adrenal microsomal 17-hydroxylase and 17,20-desmolase. J Clin Invest 1981; 67: 1177-1182.
    • (1981) J Clin Invest , vol.67 , pp. 1177-1182
    • Schiebinger, R.J.1    Albertson, B.D.2    Cassorla, F.G.3    Bowyer, D.W.4    Geelhoed, G.W.5    Cutler Jr, G.B.6
  • 82
    • 0033940456 scopus 로고    scopus 로고
    • Management of central isosexual precocity: diagnosis, treatment and outcome
    • Lebrethon MC, Bourguignon JP. Management of central isosexual precocity: diagnosis, treatment and outcome. Curr Opin Pediatr 2000; 12: 394-399.
    • (2000) Curr Opin Pediatr , vol.12 , pp. 394-399
    • Lebrethon, M.C.1    Bourguignon, J.P.2
  • 83
    • 0037228352 scopus 로고    scopus 로고
    • Are pubertal changes in girls before age 8 benign
    • Midyett LK, Moore WV, Jacobson JD. Are pubertal changes in girls before age 8 benign? Pediatrics 2003; 111: 47-51.
    • (2003) Pediatrics , vol.111 , pp. 47-51
    • Midyett, L.K.1    Moore, W.V.2    Jacobson, J.D.3
  • 84
    • 0022646469 scopus 로고
    • The NIH experience with precocious puberty: diagnostic subgroups and response to shortterm luteinizing hormone-releasing hormone analogue therapy
    • Pescovitz OH, Comite F, Hench K, et al. The NIH experience with precocious puberty: diagnostic subgroups and response to shortterm luteinizing hormone-releasing hormone analogue therapy. J Pediatr 1986; 108: 47-54.
    • (1986) J Pediatr , vol.108 , pp. 47-54
    • Pescovitz, O.H.1    Comite, F.2    Hench, K.3
  • 85
  • 87
    • 0026697577 scopus 로고
    • Effect of hypothalamic lesions that induce precocious puberty on the morphological and functional maturation of the luteinizing hormone releasing hormone neuronal system
    • Junier MP, WolffA, Hoffman G, Ma YJ, Ojeda SR. Effect of hypothalamic lesions that induce precocious puberty on the morphological and functional maturation of the luteinizing hormone releasing hormone neuronal system. Endocrinology 1992; 131: 787-798.
    • (1992) Endocrinology , vol.131 , pp. 787-798
    • Junier, M.P.1    Wolff, A.2    Hoffman, G.3    Ma, Y.J.4    Ojeda, S.R.5
  • 88
    • 0027168791 scopus 로고
    • The luteinizing hormone-releasing hormone-secreting hypothalamic hamartoma is a congenital malformation: natural history
    • Mahachoklerwattana P, Kaplan SL, Grumbach MM The luteinizing hormone-releasing hormone-secreting hypothalamic hamartoma is a congenital malformation: natural history. J Clin Endocrinol Metab 1993; 77: 118-124.
    • (1993) J Clin Endocrinol Metab , vol.77 , pp. 118-124
    • Mahachoklerwattana, P.1    Kaplan, S.L.2    Grumbach, M.M.3
  • 89
    • 0024334847 scopus 로고
    • Normal or early development of puberty despite gonadal damage in children treated for acute lymphoblastic leukaemia
    • Quigley C, Cowell C, Jimenez M, Burger H, Kirk J, Bergin M, et al. Normal or early development of puberty despite gonadal damage in children treated for acute lymphoblastic leukaemia. N Engl J Med 1989; 321: 143-151.
    • (1989) N Engl J Med , vol.321 , pp. 143-151
    • Quigley, C.1    Cowell, C.2    Jimenez, M.3    Burger, H.4    Kirk, J.5    Bergin, M.6
  • 92
    • 0027213507 scopus 로고
    • Congenital adrenal hyperplasia complicated by central precocious puberty: treatment with LHRH agonist analogue
    • Dacou-Voutetakis C, Karidis N. Congenital adrenal hyperplasia complicated by central precocious puberty: treatment with LHRH agonist analogue. Ann N Y Acad Sci U S A 1993; 687: 250-254.
    • (1993) Ann N Y Acad Sci U S A , vol.687 , pp. 250-254
    • Dacou-voutetakis, C.1    Karidis, N.2
  • 93
    • 0026734038 scopus 로고
    • The natural history of autonomous gonadal function, adrenarche and central puberty in gonadotropin-independent precocious puberty
    • Boepple PA, Frisch LS, Wierman HE, Hoffman WH, Crowley WF. The natural history of autonomous gonadal function, adrenarche and central puberty in gonadotropin-independent precocious puberty. J Clin Endocrinol Metab 1992; 75: 1550-1555.
    • (1992) J Clin Endocrinol Metab , vol.75 , pp. 1550-1555
    • Boepple, P.A.1    Frisch, L.S.2    Wierman, H.E.3    Hoffman, W.H.4    Crowley, W.F.5
  • 94
    • 0020565481 scopus 로고
    • Gonadotrophinindependent familial sexual precocity with premature Leydig and germinal cell maturation (familial testotoxicosis): effects of a potent luteinizing hormone-releasing factor agonist and medroxyprogesterone acetate therapy in four cases
    • Rosenthal SM, Grumbach MM, Kaplan SL. Gonadotrophinindependent familial sexual precocity with premature Leydig and germinal cell maturation (familial testotoxicosis): effects of a potent luteinizing hormone-releasing factor agonist and medroxyprogesterone acetate therapy in four cases. J Clin Endocrinol Metab 1983; 57: 571-579.
    • (1983) J Clin Endocrinol Metab , vol.57 , pp. 571-579
    • Rosenthal, S.M.1    Grumbach, M.M.2    Kaplan, S.L.3
  • 95
    • 0031728024 scopus 로고    scopus 로고
    • A unique constitutively activating mutation in third transmembrane helix of luteinizing hormone receptor causes sporadic male gonadotrophin-independent precocious puberty
    • Latronico AC, Abell AN, Arnhold IJP, Liu X, Lins TSS, Brito VN, et al. A unique constitutively activating mutation in third transmembrane helix of luteinizing hormone receptor causes sporadic male gonadotrophin-independent precocious puberty. J Clin Endocrinol Metab 1998; 83: 2435-2440.
    • (1998) J Clin Endocrinol Metab , vol.83 , pp. 2435-2440
    • Latronico, A.C.1    Abell, A.N.2    Arnhold, I.J.P.3    Liu, X.4    Lins, T.S.S.5    Brito, V.N.6
  • 96
    • 0032991946 scopus 로고    scopus 로고
    • A limited repertoire of mutations of the luteinizing hormone (LH) receptor gene in familial and sporadic patients with male LH-independent precocious puberty
    • Kremer H, Martens JWM, Van Reen M, Verhoef-Post M, Wit JM, Otten BJ, et al. A limited repertoire of mutations of the luteinizing hormone (LH) receptor gene in familial and sporadic patients with male LH-independent precocious puberty. J Clin Endocrinol Metab 1999; 84: 1136-1140.
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 1136-1140
    • Kremer, H.1    Martens, J.W.M.2    Van Reen, M.3    Verhoef-post, M.4    Wit, J.M.5    Otten, B.J.6
  • 97
    • 0027956207 scopus 로고
    • Rapid GDP release from Gs alpha in patients with gain and loss of endocrine function
    • Iiri T, Herzmark P, Nakamoto JM, van Dop C, Bourne HR. Rapid GDP release from Gs alpha in patients with gain and loss of endocrine function. Nature 1994; 371: 164-168.
    • (1994) Nature , vol.371 , pp. 164-168
    • Iiri, T.1    Herzmark, P.2    Nakamoto, J.M.3    van Dop, C.4    Bourne, H.R.5
  • 98
    • 0022892512 scopus 로고
    • McCune-Albright syndrome: longterm follow up
    • Lee PA, Van Dop C, Migeon CJ. McCune-Albright syndrome: longterm follow up. JAMA 1986; 256: 2980-2984.
    • (1986) JAMA , vol.256 , pp. 2980-2984
    • Lee, P.A.1    Van Dop, C.2    Migeon, C.J.3
  • 100
    • 0023764561 scopus 로고
    • Premature thelarche and central precocious puberty: the relationship between clinical presentation and the gonadotrophin response to luteinizing hormone-releasing hormone
    • Pescovitz OH, Hench KD, Barnes KM, Loriaux DL, Cutler GB Jr. Premature thelarche and central precocious puberty: the relationship between clinical presentation and the gonadotrophin response to luteinizing hormone-releasing hormone. J Clin Endocrinol Metab 1988; 67: 474-479.
    • (1988) J Clin Endocrinol Metab , vol.67 , pp. 474-479
    • Pescovitz, O.H.1    Hench, K.D.2    Barnes, K.M.3    Loriaux, D.L.4    Cutler Jr, G.B..5
  • 101
    • 0025244234 scopus 로고
    • Thelarche variant: a new syndrome of precocious sexual maturation
    • Copenh
    • Stanhope R, Brook CGD. Thelarche variant: a new syndrome of precocious sexual maturation? Acta Endocrinol (Copenh) 1990; 123: 481-486.
    • (1990) Acta Endocrinol , vol.123 , pp. 481-486
    • Stanhope, R.1    Brook, C.G.D.2
  • 102
    • 0021335423 scopus 로고
    • Pulsatile secretion of luteinizing hormone and sleep-related gonadotrophin rhythms in girls with premature thelarche
    • Beck W, Stubbe P. Pulsatile secretion of luteinizing hormone and sleep-related gonadotrophin rhythms in girls with premature thelarche. Pediatrics 1984; 141: 168-170.
    • (1984) Pediatrics , vol.141 , pp. 168-170
    • Beck, W.1    Stubbe, P.2
  • 106
    • 0031769471 scopus 로고    scopus 로고
    • Precocious pubarche, hyperinsulinism, and ovarian hyperandrogenism in girls: relation to reduced fetal growth
    • Ibanez L, Potau N, Francois I, de Zegher F. Precocious pubarche, hyperinsulinism, and ovarian hyperandrogenism in girls: relation to reduced fetal growth. J Clin Endocrinol Metab 1998; 83: 3558-3562.
    • (1998) J Clin Endocrinol Metab , vol.83 , pp. 3558-3562
    • Ibanez, L.1    Potau, N.2    Francois, I.3    de Zegher, F.4
  • 108
    • 0027166906 scopus 로고
    • Postpubertal outcome in girls diagnosed of premature pubarche during childhood: increased frequency of functional ovarian hyperandrogenism
    • Ibanez L, Potau N, Virdis R, Zampolli M, Terzi C, Gussinye M, et al. Postpubertal outcome in girls diagnosed of premature pubarche during childhood: increased frequency of functional ovarian hyperandrogenism. J Clin Endocrinol Metab 1993; 76: 1599-1603.
    • (1993) J Clin Endocrinol Metab , vol.76 , pp. 1599-1603
    • Ibanez, L.1    Potau, N.2    Virdis, R.3    Zampolli, M.4    Terzi, C.5    Gussinye, M.6
  • 109
    • 0028223447 scopus 로고
    • Psychosocial aspects of precocious puberty
    • Ehrhardt AA, Meyer-Bahlburg HFL. Psychosocial aspects of precocious puberty. Horm Res 1994; 4 (Suppl 2): 30-35.
    • (1994) Horm Res , vol.4 , Issue.2 SUPPL , pp. 30-35
    • Ehrhardt, A.A.1    Meyer-bahlburg, H.F.L.2
  • 110
    • 3142725825 scopus 로고    scopus 로고
    • When should cranial magnetic resonance imaging be used in girls with early sexual development
    • Grunt JA, Midyett K, Simon SD, Lowe L. When should cranial magnetic resonance imaging be used in girls with early sexual development? J Pediatr Endocrinol Metab 2004; 17: 775-780.
    • (2004) J Pediatr Endocrinol Metab , vol.17 , pp. 775-780
    • Grunt, J.A.1    Midyett, K.2    Simon, S.D.3    Lowe, L.4
  • 111
    • 0036140907 scopus 로고    scopus 로고
    • Central precocious puberty in girls: an evidence-based diagnosis tree to predict central nervous system abnormalities
    • Chalumeau M, Chemaitilly W, Trivin C, Adan L, Breart G, Brauner R. Central precocious puberty in girls: an evidence-based diagnosis tree to predict central nervous system abnormalities. Pediatrics 2002; 109: 61-67.
    • (2002) Pediatrics , vol.109 , pp. 61-67
    • Chalumeau, M.1    Chemaitilly, W.2    Trivin, C.3    Adan, L.4    Breart, G.5    Brauner, R.6
  • 113
  • 114
    • 0038671979 scopus 로고    scopus 로고
    • Cranial MRI scans are indicated in all girls with central precocious puberty
    • Ng SM, Kumar Y, Cody D, Smth C, Didi M. Cranial MRI scans are indicated in all girls with central precocious puberty. Arch Dis Child 2003; 88: 414-417.
    • (2003) Arch Dis Child , vol.88 , pp. 414-417
    • Ng, S.M.1    Kumar, Y.2    Cody, D.3    Smth, C.4    Didi, M.5
  • 115
    • 27844490013 scopus 로고    scopus 로고
    • Central precocious puberty in girls: prediction of the aetiology
    • Brauner R. Central precocious puberty in girls: prediction of the aetiology. J Pediatr Endocrinol Metab 2005; 18: 845-847.
    • (2005) J Pediatr Endocrinol Metab , vol.18 , pp. 845-847
    • Brauner, R.1
  • 117
    • 0030960030 scopus 로고    scopus 로고
    • Effectiveness and limitations of the use of the gonadotropin-releasing hormone agonist leuprolide acetate in the diagnosis od delayed puberty in males
    • Lanes R, Gunczler P, Osuna JA. Effectiveness and limitations of the use of the gonadotropin-releasing hormone agonist leuprolide acetate in the diagnosis od delayed puberty in males. Horm Res 1997; 48: 1-4.
    • (1997) Horm Res , vol.48 , pp. 1-4
    • Lanes, R.1    Gunczler, P.2    Osuna, J.A.3
  • 118
    • 0028784726 scopus 로고
    • Gonadotropin releasing hormone agonist (nafarelin) test to differentiate gonadotropin deficiency from constitutionally delayed puberty in teen-age boys: a clinical research center study
    • Ghai K, Cara KF, Rosenfield RL. Gonadotropin releasing hormone agonist (nafarelin) test to differentiate gonadotropin deficiency from constitutionally delayed puberty in teen-age boys: a clinical research center study. J Clin Endocrinol Metab 1995; 80: 2980-2986.
    • (1995) J Clin Endocrinol Metab , vol.80 , pp. 2980-2986
    • Ghai, K.1    Cara, K.F.2    Rosenfield, R.L.3
  • 119
    • 40849145458 scopus 로고    scopus 로고
    • Patterns of inheritance of constitutional delay of growth and puberty in families of adolescent girls and boys referred to a specialist clinic
    • Wehkalampi K, Widen E, Laine T, Palotie A, Dunkel L. Patterns of inheritance of constitutional delay of growth and puberty in families of adolescent girls and boys referred to a specialist clinic. J Clin Endocrinol Metab 2008; 93: 723-728.
    • (2008) J Clin Endocrinol Metab , vol.93 , pp. 723-728
    • Wehkalampi, K.1    Widen, E.2    Laine, T.3    Palotie, A.4    Dunkel, L.5
  • 120
    • 34548331152 scopus 로고    scopus 로고
    • Reversal of hypogonadotropic hypogonadism
    • Raivio T, Falardeau J, Dwyer A, et al. Reversal of hypogonadotropic hypogonadism. N Engl J Med 2007; 357: 863-873.
    • (2007) N Engl J Med , vol.357 , pp. 863-873
    • Raivio, T.1    Falardeau, J.2    Dwyer, A.3
  • 121
    • 0034056505 scopus 로고    scopus 로고
    • The molecular basis for developmental disorders of the pituitary gland in man
    • Dattani MT, Robinson ICAF. The molecular basis for developmental disorders of the pituitary gland in man. Clin Genet 2000; 57: 337-346.
    • (2000) Clin Genet , vol.57 , pp. 337-346
    • Dattani, M.T.1    Robinson, ICAF.2
  • 122
    • 0027438920 scopus 로고
    • Kallman syndrome: from genetics to neurobiology
    • Rugliari EI, Ballabio A. Kallman syndrome: from genetics to neurobiology. JAMA 1993; 270: 2713-2716.
    • (1993) JAMA , vol.270 , pp. 2713-2716
    • Rugliari, E.I.1    Ballabio, A.2
  • 123
    • 0032977119 scopus 로고    scopus 로고
    • Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita
    • Reutens AT, Achermann JC, Ito M, Gu WX, Habiby RL, Donohoue PA, et al. Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita. J Clin Endocrinol Metab 1999; 84: 504-511.
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 504-511
    • Reutens, A.T.1    Achermann, J.C.2    Ito, M.3    Gu, W.X.4    Habiby, R.L.5    Donohoue, P.A.6
  • 125
    • 33846841151 scopus 로고    scopus 로고
    • Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism
    • Pitteloud N, Quinton R, Pearce S, et al. Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism. J Clin Invest 2007; 117: 457-463.
    • (2007) J Clin Invest , vol.117 , pp. 457-463
    • Pitteloud, N.1    Quinton, R.2    Pearce, S.3
  • 126
    • 0025940669 scopus 로고
    • The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules
    • Legouis R, Hardelin JP, Levilliers J, et al. The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules. Cell 1991; 67: 423-435.
    • (1991) Cell , vol.67 , pp. 423-435
    • Legouis, R.1    Hardelin, J.P.2    Levilliers, J.3
  • 127
    • 20244366799 scopus 로고    scopus 로고
    • Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome
    • Dodé C, Levilliers J, Dupont JM, et al. Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet 2003; 33: 463-465.
    • (2003) Nat Genet , vol.33 , pp. 463-465
    • Dodé, C.1    Levilliers, J.2    Dupont, J.M.3
  • 128
    • 16244399678 scopus 로고    scopus 로고
    • Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2)
    • Albuisson J, Pêcheux C, Carel JC, et al. Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2). Hum Mutat 2005; 25: 98-99.
    • (2005) Hum Mutat , vol.25 , pp. 98-99
    • Albuisson, J.1    Pêcheux, C.2    Carel, J.C.3
  • 129
    • 36248981993 scopus 로고    scopus 로고
    • Genetic insights into human isolated gonadotropin deficiency
    • Trarbach EB, Silveira LG, Latronico AC. Genetic insights into human isolated gonadotropin deficiency. Pituitary 2007; 10: 381-391.
    • (2007) Pituitary , vol.10 , pp. 381-391
    • Trarbach, E.B.1    Silveira, L.G.2    Latronico, A.C.3
  • 130
    • 40849092546 scopus 로고    scopus 로고
    • Kallman's syndrome: a comparison of the reproductive phenotypes in men carrying KAL1 and FGFR1/KAL2 mutations
    • Salenave S, Chanson P, Bry H, et al. Kallman's syndrome: a comparison of the reproductive phenotypes in men carrying KAL1 and FGFR1/KAL2 mutations. J Clin Endocrinol Metab 2008; 93: 758-763.
    • (2008) J Clin Endocrinol Metab , vol.93 , pp. 758-763
    • Salenave, S.1    Chanson, P.2    Bry, H.3
  • 131
    • 33750471153 scopus 로고    scopus 로고
    • Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2
    • Epub 2
    • Dodé C, Teixeira L, Levilliers J, et al. Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. PLoS Genet 2006; 2: e175. Epub 2.
    • (2006) PLoS Genet , vol.2
    • Dodé, C.1    Teixeira, L.2    Levilliers, J.3
  • 132
    • 36849044530 scopus 로고    scopus 로고
    • Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism
    • Pitteloud N, Zhang C, Pignatelli D, et al. Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. Proc Natl Acad Sci U S A 2007; 104: 17447-17452.
    • (2007) Proc Natl Acad Sci U S A , vol.104 , pp. 17447-17452
    • Pitteloud, N.1    Zhang, C.2    Pignatelli, D.3
  • 133
    • 36949021050 scopus 로고    scopus 로고
    • Olfactory bulb hypoplasia in Prokr2 null mice stems from defective neuronal progenitor migration and differentiation
    • Prosser HM, Bradley A, Caldwell MA. Olfactory bulb hypoplasia in Prokr2 null mice stems from defective neuronal progenitor migration and differentiation. Eur J Neurosci 2007; 26: 3339-3344.
    • (2007) Eur J Neurosci , vol.26 , pp. 3339-3344
    • Prosser, H.M.1    Bradley, A.2    Caldwell, M.A.3
  • 134
    • 33845497498 scopus 로고    scopus 로고
    • A homozygous R262Q mutation in the gonadotropinreleasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia
    • Lin L, Conway GS, Hill NR, Dattani MT, Hindmarsh PC, Achermann JC. A homozygous R262Q mutation in the gonadotropinreleasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia. J Clin Endocrinol Metab 2006; 91: 5117-5121.
    • (2006) J Clin Endocrinol Metab , vol.91 , pp. 5117-5121
    • Lin, L.1    Conway, G.S.2    Hill, N.R.3    Dattani, M.T.4    Hindmarsh, P.C.5    Achermann, J.C.6
  • 135
    • 17744378347 scopus 로고    scopus 로고
    • Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropinreleasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadism
    • Beranova M, Oliveira LM, Bédécarrats GY, et al. Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropinreleasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadism. J Clin Endocrinol Metab 2001; 86: 1580-1588.
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 1580-1588
    • Beranova, M.1    Oliveira, L.M.2    Bédécarrats, G.Y.3
  • 137
    • 0035860778 scopus 로고    scopus 로고
    • The metastasis suppressor gene KiSS-1 encodes kisspeptins, the natural ligands of the orphan G protein-coupled receptor GPR54
    • Kotani M, Detheux M, Vandenbogaerde A, et al. The metastasis suppressor gene KiSS-1 encodes kisspeptins, the natural ligands of the orphan G protein-coupled receptor GPR54. J Biol Chem 2001; 276: 34631-34636.
    • (2001) J Biol Chem , vol.276 , pp. 34631-34636
    • Kotani, M.1    Detheux, M.2    Vandenbogaerde, A.3
  • 138
    • 0034661199 scopus 로고    scopus 로고
    • Novel gene expressed in nasal region influences outgrowth of olfactory axons and migration of luteinizing hormonereleasing hormone (LHRH) neurons
    • Kramer PR, Wray S. Novel gene expressed in nasal region influences outgrowth of olfactory axons and migration of luteinizing hormonereleasing hormone (LHRH) neurons. Genes Dev 2000; 14: 1824-1834.
    • (2000) Genes Dev , vol.14 , pp. 1824-1834
    • Kramer, P.R.1    Wray, S.2
  • 139
    • 3042795444 scopus 로고    scopus 로고
    • Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH)
    • Miura K, Acierno JS Jr, Seminara SB. Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH). J Hum Genet 2004; 49: 265-268.
    • (2004) J Hum Genet , vol.49 , pp. 265-268
    • Miura, K.1    Acierno Jr, J.S.2    Seminara, S.B.3
  • 142
    • 0021926766 scopus 로고
    • Gonadotropinreleasing hormone test and human chorionic gonadotropin test in the diagnosis of gonadotropin deficiency in prepubertal boys
    • Dunkel L, Perheentupa J, Virtanen M, Maenpaa J. Gonadotropinreleasing hormone test and human chorionic gonadotropin test in the diagnosis of gonadotropin deficiency in prepubertal boys. J Pediatr 1985; 107: 388-392.
    • (1985) J Pediatr , vol.107 , pp. 388-392
    • Dunkel, L.1    Perheentupa, J.2    Virtanen, M.3    Maenpaa, J.4
  • 144
    • 0028345152 scopus 로고
    • Predictive value of luteinizing hormone releasing hormone (LHRH) bolus testing before and after 36-hour pulsatile LHRH administration in the differential diagnosis of constitutional delay of puberty and male hypogonadotropic hypogonadism
    • Smals AG, Hermus AR, Boers GH, Pieters GF, Benraad TJ, Kloppenborg PW. Predictive value of luteinizing hormone releasing hormone (LHRH) bolus testing before and after 36-hour pulsatile LHRH administration in the differential diagnosis of constitutional delay of puberty and male hypogonadotropic hypogonadism. J Clin Endocrinol Metab 1994; 78: 602-608.
    • (1994) J Clin Endocrinol Metab , vol.78 , pp. 602-608
    • Smals, A.G.1    Hermus, A.R.2    Boers, G.H.3    Pieters, G.F.4    Benraad, T.J.5    Kloppenborg, P.W.6
  • 145
    • 0033999122 scopus 로고    scopus 로고
    • Pubertal development and growth after total-body irradiation and bone marrow transplantation for hematological malignancies
    • Bakker B, Massa GG, Oostdijk W, Van Weel-Sipman MH, Vossen JM, Wit JM. Pubertal development and growth after total-body irradiation and bone marrow transplantation for hematological malignancies. Eur J Pediatr 2000; 159: 31-37.
    • (2000) Eur J Pediatr , vol.159 , pp. 31-37
    • Bakker, B.1    Massa, G.G.2    Oostdijk, W.3    Van Weel-sipman, M.H.4    Vossen, J.M.5    Wit, J.M.6
  • 146
    • 0031049942 scopus 로고    scopus 로고
    • Premature ovarian failure and ovarian autoimmunity
    • Hoek A, Schoemaker J, Drexhage HA. Premature ovarian failure and ovarian autoimmunity. Endocr Rev 1997; 18: 107-134.
    • (1997) Endocr Rev , vol.18 , pp. 107-134
    • Hoek, A.1    Schoemaker, J.2    Drexhage, H.A.3
  • 147
    • 0022974316 scopus 로고
    • Resistant ovary syndrome and premature ovarian failure in young women with galactosaemia
    • Fraser IS, Russell P, Greco S, Robertson DM. Resistant ovary syndrome and premature ovarian failure in young women with galactosaemia. Clin Reprod Fertil 1986; 4: 133-138.
    • (1986) Clin Reprod Fertil , vol.4 , pp. 133-138
    • Fraser, I.S.1    Russell, P.2    Greco, S.3    Robertson, D.M.4
  • 148
    • 0017347843 scopus 로고
    • Height correlations between parents and mature offspring in normal subjects and in subjects with Turner's and Klinefelter's and other syndromes
    • Brook CGD, Gasser T, Werder EA, Prader A, Vanderschueren-Lodewykx MA. Height correlations between parents and mature offspring in normal subjects and in subjects with Turner's and Klinefelter's and other syndromes. Ann Hum Biol 1977; 4: 17-22.
    • (1977) Ann Hum Biol , vol.4 , pp. 17-22
    • Brook, C.G.D.1    Gasser, T.2    Werder, E.A.3    Prader, A.4    Vanderschueren-lodewykx, M.A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.