1. Tanner, J.M. and R.H. Whitehouse, Clinical longitudinal standards for height, weight, height velocity, weight velocity, and stages of puberty. Arch Dis Child, 1976. 51(3): p. 170-9.

2. Marshall, W.A. and J.M. Tanner, Variations in pattern of pubertal changes in girls. Arch Dis Child, 1969. 44(235): p. 291-303.

3. Herman-Giddens, M.E., et al., Secondary sexual characteristics and menses in young girls seen in office practice: a study from the Pediatric Research in Office Settings network. Pediatrics, 1997. 99(4): p. 505-12.

4. Kosho, T., et al., Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome. J Clin Endocrinol Metab, 1999. 84(12): p. 4613-21.

5. Rao, E., et al., Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet, 1997. 16(1): p. 54-63.

6. Clement-Jones, M., et al., The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome. Hum Mol Genet, 2000. 9(5): p. 695-702.

7. Lee, M., Growth hormone deficiency as the only identifiable cause for primary amenorrhea. J Pediatr Adolesc Gynecol, 2000. 13(2): p. 93.

8. Morishima, A., et al., Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens. J Clin Endocrinol Metab, 1995. 80(12): p. 3689-98.

9. MacGillivray, M.H., et al., Pediatric endocrinology update: an overview. The essential roles of estrogens in pubertal growth, epiphyseal fusion and bone turnover: lessons from mutations in the genes for aromatase and the estrogen receptor. Horm Res, 1998. 49 Suppl 1: p. 2-8.

10. Cutler, G.B., Jr., The role of estrogen in bone growth and maturation during childhood and adolescence. J Steroid Biochem Mol Biol, 1997. 61(3-6): p. 141-4.

11. Grumbach, M.M. and R.J. Auchus, Estrogen: consequences and implications of human mutations in synthesis and action. J Clin Endocrinol Metab, 1999. 84(12): p. 4677-94.

12. Kaplowitz, P.B. and S.E. Oberfield, Reexamination of the age limit for defining when puberty is precocious in girls in the United States: implications for evaluation and treatment. Drug and Therapeutics and Executive Committees of the Lawson Wilkins Pediatric Endocrine Society. Pediatrics, 1999. 104(4 Pt 1): p. 936-41.

13. Kaplowitz, P., Precocious puberty in girls and the risk of a central nervous system abnormality: the elusive search for diagnostic certainty. Pediatrics, 2002. 109(1): p. 139-41.

14. Chalumeau, M., et al., Central precocious puberty in girls: an evidence-based diagnosis tree to predict central nervous system abnormalities. Pediatrics, 2002. 109(1): p. 61-7.

15. Herman-Giddens, M.E., L. Wang, and G. Koch, Secondary sexual characteristics in boys: estimates from the national health and nutrition examination survey III, 1988-1994. Arch Pediatr Adolesc Med, 2001. 155(9): p. 1022-8.

16. Cisternino, M., et al., Etiology and age incidence of precocious puberty in girls: a multicentric study. J Pediatr Endocrinol Metab, 2000. 13 Suppl 1: p. 695-701.

17. Boepple, P.A., et al., Use of a potent, long acting agonist of gonadotropin-releasing hormone in the treatment of precocious puberty. Endocr Rev, 1986. 7(1): p. 24-33.

18. Oerter, K.E., et al., Adult height in precocious puberty after long-term treatment with deslorelin. J Clin Endocrinol Metab, 1991. 73(6): p. 1235-40.

19. Carel, J.C., et al., Final height after long-term treatment with triptorelin slow release for central precocious puberty: importance of statural growth after interruption of treatment. French study group of Decapeptyl in Precocious Puberty. J Clin Endocrinol Metab, 1999. 84(6): p. 1973-8.

20. Rosenfield, R.L., Selection of children with precocious puberty for treatment with gonadotropin releasing hormone analogs. J Pediatr, 1994. 124(6): p. 989-91.

21. Leger, J., R. Reynaud, and P. Czernichow, Do all girls with apparent idiopathic precocious puberty require gonadotropin-releasing hormone agonist treatment? J Pediatr, 2000. 137(6): p. 819-25.

22. Partsch, C.J., S. Heger, and W.G. Sippell, Treatment of central precocious puberty: lessons from a 15 years prospective trial. German Decapeptyl Study Group. J Pediatr Endocrinol Metab, 2000. 13 Suppl 1: p. 747-58.

23. Antoniazzi, F., et al., End results in central precocious puberty with GnRH analog treatment: the data of the Italian Study Group for Physiopathology of Puberty. J Pediatr Endocrinol Metab, 2000. 13 Suppl 1: p. 773-80.

24. Pucarelli, I., et al., Combined therapy with GnRH analog plus growth hormone in central precocious puberty. J Pediatr Endocrinol Metab, 2000. 13 Suppl 1: p. 811-20.

25. Peters, H., A.G. Byskov, and J. Grinsted, Follicular growth in fetal and prepubertal ovaries of humans and other primates. Clin Endocrinol Metab, 1978. 7(3): p. 469-85.

26. Millar, D.M., et al., Prepubertal ovarian cyst formation: 5 years' experience. Obstet Gynecol, 1993. 81(3): p. 434-8.

27. Pienkowski, C., et al., Recurrent ovarian cyst and mutation of the Gs alpha gene in ovarian cyst fluid cells: what is the link with McCune-Albright syndrome? Acta Paediatr, 1997. 86(9): p. 1019-21.

28. Gribbon, M., S.H. Ein, and K. Mancer, Pediatric malignant ovarian tumors: a 43-year review. J Pediatr Surg, 1992. 27(4): p. 480-4.

29. Young, R.H., G.R. Dickersin, and R.E. Scully, A distinctive ovarian sex cord-stromal tumor causing sexual precocity in the Peutz-Jeghers syndrome. Am J Surg Pathol, 1983. 7(3): p. 233-43.

30. Lee, P.A., C. Van Dop, and C.J. Migeon, McCune-Albright syndrome. Long-term follow-up. Jama, 1986. 256(21): p. 2980-4.

31. Schwindinger, W.F., C.A. Francomano, and M.A. Levine, Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome. Proc Natl Acad Sci U S A, 1992. 89(11): p. 5152-6.

32. Kim, I.S., et al., Activating mutation of GS alpha in McCune-Albright syndrome causes skin pigmentation by tyrosinase gene activation on affected melanocytes. Horm Res, 1999. 52(5): p. 235-40.

33. Sakamoto, A., et al., A comparative study of fibrous dysplasia and osteofibrous dysplasia with regard to Gsalpha mutation at the Arg201 codon: polymerase chain reaction-restriction fragment length polymorphism analysis of paraffin-embedded tissues. J Mol Diagn, 2000. 2(2): p. 67-72.

34. Riminucci, M., et al., The histopathology of fibrous dysplasia of bone in patients with activating mutations of the Gs alpha gene: site-specific patterns and recurrent histological hallmarks. J Pathol, 1999. 187(2): p. 249-58.

35. Hammami, M.M., et al., Primary hyperparathyroidism-associated polyostotic fibrous dysplasia: absence of McCune-Albright syndrome mutations. J Endocrinol Invest, 1997. 20(9): p. 552-8.

36. Lumbroso, S., F. Paris, and C. Sultan, McCune-Albright syndrome: molecular genetics. J Pediatr Endocrinol Metab, 2002. 15 Suppl 3: p. 875-82.

37. Mills, J.L., et al., Premature thelarche. Natural history and etiologic investigation. Am J Dis Child, 1981. 135(8): p. 743-5.

38. Murram, D., J. Dewhurst, and D.B. Grant, Premature menarche: a follow-up study. Arch Dis Child, 1983. 58(2): p. 142-3.

39. Ibanez, L., et al., Insulin gene variable number of tandem repeat genotype and the low birth weight, precocious pubarche, and hyperinsulinism sequence. J Clin Endocrinol Metab, 2001. 86(12): p. 5788-93.

40. Reindollar, R.H., J.R. Byrd, and P.G. McDonough, Delayed sexual development: a study of 252 patients. Am J Obstet Gynecol, 1981. 140(4): p. 371-80.

41. Reindollar, R.H., S.P.T. Tho, and P.G. McDonough, Delayed puberty: an updated study of 326 patients. Transactions of The American Gynecological and Obstetrical Society, 1984. 8: p. 146--162.

42. Sedlmeyer, I.L. and M.R. Palmert, Delayed puberty: analysis of a large case series from an academic center. J Clin Endocrinol Metab, 2002. 87(4): p. 1613-20.

43. Simpson, J.L. and A. Rajkovic, Ovarian differentiation and gonadal failure. Am J Med Genet, 1999. 89(4): p. 186-200.

44. Lin, A.E., B. Lippe, and R.G. Rosenfeld, Further delineation of aortic dilation, dissection, and rupture in patients with Turner syndrome. Pediatrics, 1998. 102(1): p. e12.

45. Karnis, M.F., et al., The safety of pregnancy by donor oocyte in patients with Turner syndrome: A national survey. J Soc Gynecol Investig, 2001. 8(1): p. S85A.

46. Sherman, S.L., Premature ovarian failure in the fragile X syndrome. Am J Med Genet, 2000. 97(3): p. 189-94.

47. Zinn, A.R. and J.L. Ross, Turner syndrome and haploinsufficiency. Curr Opin Genet Dev, 1998. 8(3): p. 322-7.

48. Davison, R.M., M. Fox, and G.S. Conway, Mapping of the POF1 locus and identification of putative genes for premature ovarian failure. Mol Hum Reprod, 2000. 6(4): p. 314-8.

49. Sala, C., et al., Eleven X chromosome breakpoints associated with premature ovarian failure (POF) map to a 15-Mb YAC contig spanning Xq21. Genomics, 1997. 40(1): p. 123-31.

50. Bione, S., et al., A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. Am J Hum Genet, 1998. 62(3): p. 533-41.

51. Muller, U., Mapping of testis-determining locus on Yp by the molecular genetic analysis of XX males and XY females. Development, 1987. 101 Suppl: p. 51-8.

52. Hawkins, J.R., Mutational analysis of SRY in XY females. Hum Mutat, 1993. 2(5): p. 347-50.

53. Hawkins, J.R., et al., Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal. Hum Genet, 1992. 88(4): p. 471-4.

54. Ikeda, Y., [The genes in the molecular cascade of the mammalian sexual development]. Nippon Rinsho, 1997. 55(11): p. 2809-15.

55. Nordqvist, K., Sex differentiation -- gonadogenesis and novel genes. Int J Dev Biol, 1995. 39(5): p. 727-36.

56. Giordano, J., et al., Genetic study of SOX9 in a case of campomelic dysplasia. Am J Med Genet, 2001. 98(2): p. 176-81.

57. Huang, B., et al., Autosomal XX sex reversal caused by duplication of SOX9. Am J Med Genet, 1999. 87(4): p. 349-53.

58. Kwok, C., et al., Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal. Am J Hum Genet, 1995. 57(5): p. 1028-36.

59. McElreavey, K. and M. Fellous, Sex determination and the Y chromosome. Am J Med Genet, 1999. 89(4): p. 176-85.

60. Bardoni, B., et al., A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nat Genet, 1994. 7(4): p. 497-501.

61. Ozisik, G., J.C. Achermann, and J.L. Jameson, The role of SF1 in adrenal and reproductive function: insight from naturally occurring mutations in humans. Mol Genet Metab, 2002. 76(2): p. 85-91.

62. Aittomaki, K., et al., Clinical features of primary ovarian failure caused by a point mutation in the follicle-stimulating hormone receptor gene. J Clin Endocrinol Metab, 1996. 81(10): p. 3722-6.

63. Aittomaki, K., et al., Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell, 1995. 82(6): p. 959-68.

64. Jiang, M., et al., The frequency of an inactivating point mutation (566C-->T) of the human follicle-stimulating hormone receptor gene in four populations using allele-specific hybridization and time-resolved fluorometry. J Clin Endocrinol Metab, 1998. 83(12): p. 4338-43.

65. Arnhold, I.J., et al., Ovarian resistance to luteinizing hormone: a novel cause of amenorrhea and infertility. Fertil Steril, 1997. 67(2): p. 394-7.

66. Arnhold, I.J., et al., Clinical features of women with resistance to luteinizing hormone. Clin Endocrinol (Oxf), 1999. 51(6): p. 701-7.

67. Arnhold, I.J., et al., Menstrual disorders and infertility caused by inactivating mutations of the luteinizing hormone receptor gene. Fertil Steril, 1999. 71(4): p. 597-601.

68. Beck-Peccoz, P., R. Romoli, and L. Persani, Mutations of LH and FSH receptors. J Endocrinol Invest, 2000. 23(9): p. 566-72.

69. Latronico, A.C., et al., A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty. J Clin Endocrinol Metab, 1995. 80(8): p. 2490-4.

70. Huhtaniemi, I.T. and K. Aittomaki, Mutations of follicle-stimulating hormone and its receptor: effects on gonadal function. Eur J Endocrinol, 1998. 138(5): p. 473-81.

71. Layman, L.C., et al., Delayed puberty and hypogonadism caused by mutations in the follicle-stimulating hormone beta-subunit gene. N Engl J Med, 1997. 337(9): p. 607-11.

72. Fardella, C.E., et al., Point mutation of Arg440 to His in cytochrome P450c17 causes severe 17 alpha-hydroxylase deficiency. J Clin Endocrinol Metab, 1994. 79(1): p. 160-4.

73. Monno, S., et al., A new variant of the cytochrome P450c17 (CYP17) gene mutation in three patients with 17 alpha-hydroxylase deficiency. Ann Hum Genet, 1997. 61 ( Pt 3): p. 275-9.

74. Bulun, S.E., Clinical review 78: Aromatase deficiency in women and men: would you have predicted the phenotypes? J Clin Endocrinol Metab, 1996. 81(3): p. 867-71.

75. Bulun, S.E., Aromatase deficiency and estrogen resistance: from molecular genetics to clinic. Semin Reprod Med, 2000. 18(1): p. 31-9.

76. Mullis, P.E., et al., Aromatase deficiency in a female who is compound heterozygote for two new point mutations in the P450arom gene: impact of estrogens on hypergonadotropic hypogonadism, multicystic ovaries, and bone densitometry in childhood. J Clin Endocrinol Metab, 1997. 82(6): p. 1739-45.

77. Joss, E.E., et al., Growth promotion and Turner-specific bone age after therapy with growth hormone and in combination with oxandrolone: when should therapy be started in Turner syndrome? Horm Res, 1997. 47(3): p. 102-9.

78. Chernausek, S.D., et al., Growth hormone therapy of Turner syndrome: the impact of age of estrogen replacement on final height. Genentech, Inc., Collaborative Study Group. J Clin Endocrinol Metab, 2000. 85(7): p. 2439-45.

79. Schweizer, R., et al., Experience with growth hormone therapy in Turner syndrome in a single centre: low total height gain, no further gains after puberty onset and unchanged body proportions. Horm Res, 2000. 53(5): p. 228-38.

80. Reiter, E.O., et al., Early initiation of growth hormone treatment allows age-appropriate estrogen use in Turner's syndrome. J Clin Endocrinol Metab, 2001. 86(5): p. 1936-41.

81. Ranke, M.B., et al., Predicting the response to recombinant human growth hormone in Turner syndrome: KIGS models. KIGS International Board. Kabi International Growth Study. Acta Paediatr Suppl, 1999. 88(433): p. 122-5.

82. Binder, G., C.P. Schwarze, and M.B. Ranke, Identification of short stature caused by SHOX defects and therapeutic effect of recombinant human growth hormone. J Clin Endocrinol Metab, 2000. 85(1): p. 245-9.

83. Haverkamp, F. and M.B. Ranke, The ethical dilemma of growth hormone treatment of short stature: a scientific theoretical approach. Horm Res, 1999. 51(6): p. 301-4.

84. Ranke, M.B., et al., Prediction of long-term response to recombinant human growth hormone in Turner syndrome: development and validation of mathematical models. KIGS International Board. Kabi International Growth Study. J Clin Endocrinol Metab, 2000. 85(11): p. 4212-8.

85. Reiter, E.O., Growth hormone: new ideas, recurring themes. Endocrine, 2001. 15(1): p. 1-4.

86. Reiter, E.O., et al., A multicenter study of the efficacy and safety of sustained release GH in the treatment of naive pediatric patients with GH deficiency. J Clin Endocrinol Metab, 2001. 86(10): p. 4700-6.

87. Achermann, J.C., et al., Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay. J Clin Endocrinol Metab, 1999. 84(12): p. 4497-500.

88. Merke, D.P., et al., Hypogonadotropic hypogonadism in a female caused by an X-linked recessive mutation in the DAX1 gene. N Engl J Med, 1999. 340(16): p. 1248-52.

89. Seminara, S.B., et al., X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females. J Clin Endocrinol Metab, 1999. 84(12): p. 4501-9.

90. Seminara, S.B., et al., Genetics of hypogonadotropic hypogonadism. J Endocrinol Invest, 2000. 23(9): p. 560-5.

91. Mendonca, B.B., et al., Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene. J Clin Endocrinol Metab, 1999. 84(3): p. 942-5.

92. Hardelin, J.P., et al., Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome. Hum Mol Genet, 1993. 2(4): p. 373-7.

93. Hardelin, J.P., et al., Xp22.3 deletions in isolated familial Kallmann's syndrome. J Clin Endocrinol Metab, 1993. 76(4): p. 827-31.

94. Oliveira, L.M., et al., The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics. J Clin Endocrinol Metab, 2001. 86(4): p. 1532-8.

95. Beranova, M., et al., Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropin-releasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadism. J Clin Endocrinol Metab, 2001. 86(4): p. 1580-8.

96. Costa, E.M., et al., Two novel mutations in the gonadotropin-releasing hormone receptor gene in Brazilian patients with hypogonadotropic hypogonadism and normal olfaction. J Clin Endocrinol Metab, 2001. 86(6): p. 2680-6.

97. de Roux, N. and E. Milgrom, Inherited disorders of GnRH and gonadotropin receptors. Mol Cell Endocrinol, 2001. 179(1-2): p. 83-7.

98. Layman, L.C., et al., Mutation analysis of the gonadotropin-releasing hormone receptor gene in idiopathic hypogonadotropic hypogonadism. Fertil Steril, 1997. 68(6): p. 1079-85.

99. Petrozza, J.C., et al., Congenital absence of the uterus and vagina is not commonly transmitted as a dominant genetic trait: outcomes of surrogate pregnancies. Fertil Steril, 1997. 67(2): p. 387-9.

100. Timmreck, L.S., et al., Cystic fibrosis transmembrane conductance regulator gene mutations in patients with congenital absence of the uterus and vagina. In Press, 2002.

101. Resendes, B.L., et al., Role for anti-Mullerian hormone in congenital absence of the uterus and vagina. Am J Med Genet, 2001. 98(2): p. 129-36.

102. Lalwani, S.I., et al., HOXA10 mutation analysis in women with congenital absence of the uterus and vagina. J Soc Gynecol Investig, 2001. 8(1): p. 162A.

103. Karnis, M.F., et al., Mutation analysis of the HOXA13 gene in patients with congenital absence of the uterus and vagina. J Soc Gynecol Investig, 2000. 7(1): p. S172A.

104. van Lingen, B.L., et al., Molecular genetic analysis of the PAX2 gene in patients with congenital absence of the uterus and vagina. Fertil Steril, 1998. 70: p. S402.

105. van Lingen, B.L., et al., Further evidence that the WT1 gene does not have a role in the development of the derivatives of the mullerian duct. Am J Obstet Gynecol, 1998. 179(3 Pt 1): p. 597-603.

106. Cooper, M.J., S. Fleming, and J. Murray, Laparoscopic assisted vecchietti procedure for the creation of a neovagina. J Obstet Gynaecol Res, 1996. 22(4): p. 385-8.

107. Fedele, L., et al., Laparoscopic creation of a neovagina in Mayer-Rokitansky-Kuster-Hauser syndrome by modification of Vecchietti's operation. Am J Obstet Gynecol, 1994. 171(1): p. 268-9.

108. Hanzal, E., H. Kolbl, and H. Janisch, [Morphologic and functional long-term results after Vecchietti operation for the formation of a neovagina]. Geburtshilfe Frauenheilkd, 1991. 51(7): p. 563-8.

109. Pelzer, V. and M. Graf, [The segmented phantom insert for the formation of a neovagina according to Vecchietti]. Geburtshilfe Frauenheilkd, 1989. 49(11): p. 977-80.

110. Vecchietti, G., [The neovagina in the Robitansky-Kuster-Hauser syndrome]. Rev Med Suisse Romande, 1979. 99(9): p. 593-601.

111. Roberts, C.P., M.J. Haber, and J.A. Rock, Vaginal creation for mullerian agenesis. Am J Obstet Gynecol, 2001. 185(6): p. 1349-52; discussion 1352-3.

112. Williams, J.K., M. Lake, and J.M. Ingram, The bicycle seat stool in the treatment of vaginal agenesis and stenosis. J Obstet Gynecol Neonatal Nurs, 1985. 14(2): p. 147-50.

113. Reindollar, R.H. and P.G. McDonough, Etiology and evaluation of delayed sexual development. Pediatr Clin North Am, 1981. 28(2): p. 267-86.

114. Brinkmann, A.O., Molecular basis of androgen insensitivity. Mol Cell Endocrinol, 2001. 179(1-2): p. 105-9.

115. Quigley, C.A., et al., Androgen receptor defects: historical, clinical, and molecular perspectives. Endocr Rev, 1995. 16(3): p. 271-321.

116. Gottlieb, B., L.K. Beitel, and M.A. Trifiro, Variable expressivity and mutation databases: The androgen receptor gene mutations database. Hum Mutat, 2001. 17(5): p. 382-8.

117. Tsukada, T., et al., An androgen receptor mutation causing androgen resistance in undervirilized male syndrome. J Clin Endocrinol Metab, 1994. 79(4): p. 1202-7.

118. Lobaccaro, J.M., et al., Androgen receptor gene mutation in male breast cancer. Hum Mol Genet, 1993. 2(11): p. 1799-802.

119. Knoke, I., et al., A new point mutation of the androgen receptor gene in a patient with partial androgen resistance and severe oligozoospermia. Andrologia, 1999. 31(4): p. 199-201.

120. Evans, B.A., et al., Phenotypic diversity in siblings with partial androgen insensitivity syndrome. Arch Dis Child, 1997. 76(6): p. 529-31.

121. Holterhus, P.M., et al., Mosaicism due to a somatic mutation of the androgen receptor gene determines phenotype in androgen insensitivity syndrome. J Clin Endocrinol Metab, 1997. 82(11): p. 3584-9.

122. Tincello, D.G., et al., Correlation of clinical, endocrine and molecular abnormalities with in vivo responses to high-dose testosterone in patients with partial androgen insensitivity syndrome. Clin Endocrinol (Oxf), 1997. 46(4): p. 497-506.

123. Weidemann, W., et al., Response to androgen treatment in a patient with partial androgen insensitivity and a mutation in the deoxyribonucleic acid-binding domain of the androgen receptor. J Clin Endocrinol Metab, 1998. 83(4): p. 1173-6.