1.         Tanner JM, Whitehouse RH. Clinical longitudinal standards for height, weight, height velocity, weight velocity, and stages of puberty. Arch Dis Child1976 Mar;51(3):170-9.

2.         Marshall WA, Tanner JM. Variations in pattern of pubertal changes in girls. Arch Dis Child1969 Jun;44(235):291-303.

3.         Herman-Giddens ME, Slora EJ, Wasserman RC, Bourdony CJ, Bhapkar MV, Koch GG, Hasemeier CM. Secondary sexual characteristics and menses in young girls seen in office practice: a study from the Pediatric Research in Office Settings network. Pediatrics1997 Apr;99(4):505-12.

4.         National Center for Health Statistics (NCHS). National Health and Nutrition Examination Survey Data. [Website] Hyattsville, MD: U.S. Department of Health and Human Services, Centers for Disease Control and Prevention; 1996 [Sept. 2, 2009]; Available from: http://www.cdc.gov/nchs/nhanes.htm.

5.         Euling SY, Herman-Giddens ME, Lee PA, Selevan SG, Juul A, Sorensen TI, Dunkel L, Himes JH, Teilmann G, Swan SH. Examination of US puberty-timing data from 1940 to 1994 for secular trends: panel findings. Pediatrics2008 Feb;121 Suppl 3:S172-91.

6.         Lettre G, Jackson AU, Gieger C, Schumacher FR, Berndt SI, Sanna S, Eyheramendy S, Voight BF, Butler JL, Guiducci C, Illig T, Hackett R, Heid IM, Jacobs KB, Lyssenko V, Uda M, Boehnke M, Chanock SJ, Groop LC, Hu FB, Isomaa B, Kraft P, Peltonen L, Salomaa V, Schlessinger D, Hunter DJ, Hayes RB, Abecasis GR, Wichmann HE, Mohlke KL, Hirschhorn JN. Identification of ten loci associated with height highlights new biological pathways in human growth. Nat Genet2008 May;40(5):584-91.

7.         Gudbjartsson DF, Walters GB, Thorleifsson G, Stefansson H, Halldorsson BV, Zusmanovich P, Sulem P, Thorlacius S, Gylfason A, Steinberg S, Helgadottir A, Ingason A, Steinthorsdottir V, Olafsdottir EJ, Olafsdottir GH, Jonsson T, Borch-Johnsen K, Hansen T, Andersen G, Jorgensen T, Pedersen O, Aben KK, Witjes JA, Swinkels DW, den Heijer M, Franke B, Verbeek AL, Becker DM, Yanek LR, Becker LC, Tryggvadottir L, Rafnar T, Gulcher J, Kiemeney LA, Kong A, Thorsteinsdottir U, Stefansson K. Many sequence variants affecting diversity of adult human height. Nat Genet2008 May;40(5):609-15.

8.         Lettre G. Genetic regulation of adult stature. Curr Opin Pediatr2009 Aug;21(4):515-22.

9.         Kosho T, Muroya K, Nagai T, Fujimoto M, Yokoya S, Sakamoto H, Hirano T, Terasaki H, Ohashi H, Nishimura G, Sato S, Matsuo N, Ogata T. Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome. J Clin Endocrinol Metab1999 Dec;84(12):4613-21.

10.       Rao E, Weiss B, Fukami M, Rump A, Niesler B, Mertz A, Muroya K, Binder G, Kirsch S, Winkelmann M, Nordsiek G, Heinrich U, Breuning MH, Ranke MB, Rosenthal A, Ogata T, Rappold GA. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet1997 May;16(1):54-63.

11.       Clement-Jones M, Schiller S, Rao E, Blaschke RJ, Zuniga A, Zeller R, Robson SC, Binder G, Glass I, Strachan T, Lindsay S, Rappold GA. The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome. Hum Mol Genet2000 Mar 22;9(5):695-702.

12.       Chen J, Wildhardt G, Zhong Z, Roeth R, Weiss B, Steinberger D, Decker J, Blum WF, Rappold GA. Enhancer mutations of the SHOX gene as a frequent cause of short stature - the essential role of a 250 kb downstream regulatory domain. J Med Genet2009 Jul 2.

13.       Lee M. Growth hormone deficiency as the only identifiable cause for primary amenorrhea. J Pediatr Adolesc Gynecol2000 May;13(2):93.

14.       Morishima A, Grumbach MM, Simpson ER, Fisher C, Qin K. Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens. J Clin Endocrinol Metab1995 Dec;80(12):3689-98.

15.       MacGillivray MH, Morishima A, Conte F, Grumbach M, Smith EP. 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 Res1998;49 Suppl 1:2-8.

16.       Cutler GB, Jr. The role of estrogen in bone growth and maturation during childhood and adolescence. J Steroid Biochem Mol Biol1997 Apr;61(3-6):141-4.

17.       Grumbach MM, Auchus RJ. Estrogen: consequences and implications of human mutations in synthesis and action. J Clin Endocrinol Metab1999 Dec;84(12):4677-94.

18.       Bu YH, Peng D, Zhou HD, Huang QX, Liu W, Luo XB, Tang LL, Tang AG. Insulin Receptor Substrate 2 plays Important Roles in 17betaEstradiol Induced Bone Formation. J Endocrinol Invest2009 May 26.

19.       Kaplowitz PB, Oberfield SE. 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. Pediatrics1999 Oct;104(4 Pt 1):936-41.

20.       Kaplowitz P. Precocious puberty in girls and the risk of a central nervous system abnormality: the elusive search for diagnostic certainty. Pediatrics2002 Jan;109(1):139-41.

21.       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. Pediatrics2002 Jan;109(1):61-7.

22.       Midyett LK, Moore WV, Jacobson JD. Are pubertal changes in girls before age 8 benign? Pediatrics2003 Jan;111(1):47-51.

23.       Diaz A, Laufer MR, Breech LL. Menstruation in girls and adolescents: using the menstrual cycle as a vital sign. Pediatrics2006 Nov;118(5):2245-50.

24.       American Medical Association. Guidelines for Adolescent Preventive Services (GAPS). [Website] 1997 [Sept. 2, 2009]; Available from: http://www.ama-assn.org/ama/pub/physician-resources/public-health/promoting-healthy-lifestyles/adolescent-health/guidelines-adolescent-preventive-services.shtml.

25.       Rosenfield RL, Bachrach LK, Chernausek SD, Gertner JM, Gottschalk M, Hardin DS, Pescovitz OH, Saenger P. Current age of onset of puberty. Pediatrics2000 Sep;106(3):622-3.

26.       Kaplowitz P. Clinical characteristics of 104 children referred for evaluation of precocious puberty. J Clin Endocrinol Metab2004 Aug;89(8):3644-50.

27.       Cisternino M, Arrigo T, Pasquino AM, Tinelli C, Antoniazzi F, Beduschi L, Bindi G, Borrelli P, De Sanctis V, Farello G, Galluzzi F, Gargantini L, Lo Presti D, Sposito M, Tato L. Etiology and age incidence of precocious puberty in girls: a multicentric study. J Pediatr Endocrinol Metab2000 Jul;13 Suppl 1:695-701.

28.       Papadimitriou A, Beri D, Tsialla A, Fretzayas A, Psychou F, Nicolaidou P. Early growth acceleration in girls with idiopathic precocious puberty. J Pediatr2006 Jul;149(1):43-6.

29.       Brito VN, Batista MC, Borges MF, Latronico AC, Kohek MB, Thirone AC, Jorge BH, Arnhold IJ, Mendonca BB. Diagnostic value of fluorometric assays in the evaluation of precocious puberty. J Clin Endocrinol Metab1999 Oct;84(10):3539-44.

30.       Neely EK, Wilson DM, Lee PA, Stene M, Hintz RL. Spontaneous serum gonadotropin concentrations in the evaluation of precocious puberty. J Pediatr1995 Jul;127(1):47-52.

31.       Boepple PA, Mansfield MJ, Wierman ME, Rudlin CR, Bode HH, Crigler JF, Jr., Crawford JD, Crowley WF, Jr. Use of a potent, long acting agonist of gonadotropin-releasing hormone in the treatment of precocious puberty. Endocr Rev1986 Feb;7(1):24-33.

32.       Oerter KE, Manasco P, Barnes KM, Jones J, Hill S, Cutler GB, Jr. Adult height in precocious puberty after long-term treatment with deslorelin. J Clin Endocrinol Metab1991 Dec;73(6):1235-40.

33.       Carel JC, Roger M, Ispas S, Tondu F, Lahlou N, Blumberg J, Chaussain JL. 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 Metab1999 Jun;84(6):1973-8.

34.       Carel JC, Lahlou N, Roger M, Chaussain JL. Precocious puberty and statural growth. Hum Reprod Update2004 Mar-Apr;10(2):135-47.

35.       Carel JC, Eugster EA, Rogol A, Ghizzoni L, Palmert MR, Antoniazzi F, Berenbaum S, Bourguignon JP, Chrousos GP, Coste J, Deal S, de Vries L, Foster C, Heger S, Holland J, Jahnukainen K, Juul A, Kaplowitz P, Lahlou N, Lee MM, Lee P, Merke DP, Neely EK, Oostdijk W, Phillip M, Rosenfield RL, Shulman D, Styne D, Tauber M, Wit JM. Consensus statement on the use of gonadotropin-releasing hormone analogs in children. Pediatrics2009 Apr;123(4):e752-62.

36.       Leger J, Reynaud R, Czernichow P. Do all girls with apparent idiopathic precocious puberty require gonadotropin-releasing hormone agonist treatment? J Pediatr2000 Dec;137(6):819-25.

37.       Partsch CJ, Heger S, Sippell WG. Treatment of central precocious puberty: lessons from a 15 years prospective trial. German Decapeptyl Study Group. J Pediatr Endocrinol Metab2000 Jul;13 Suppl 1:747-58.

38.       Antoniazzi F, Arrigo T, Cisternino M, Galluzzi F, Bertelloni S, Pasquino AM, Borrelli P, Osio D, Mengarda F, De Luca F, Tato L. End results in central precocious puberty with GnRH analog treatment: the data of the Italian Study Group for Physiopathology of Puberty. J Pediatr Endocrinol Metab2000 Jul;13 Suppl 1:773-80.

39.       Carel J-C, Leger J. Precocious Puberty. N Engl J Med2008 May 29, 2008;358(22):2366-77.

40.       Pucarelli I, Segni M, Ortore M, Moretti A, Iannaccone R, Pasquino AM. Combined therapy with GnRH analog plus growth hormone in central precocious puberty. J Pediatr Endocrinol Metab2000 Jul;13 Suppl 1:811-20.

41.       Peters H, Byskov AG, Grinsted J. Follicular growth in fetal and prepubertal ovaries of humans and other primates. Clin Endocrinol Metab1978 Nov;7(3):469-85.

42.       Millar DM, Blake JM, Stringer DA, Hara H, Babiak C. Prepubertal ovarian cyst formation: 5 years' experience. Obstet Gynecol1993 Mar;81(3):434-8.

43.       Pienkowski C, Lumbroso S, Bieth E, Sultan C, Rochiccioli P, Tauber M. Recurrent ovarian cyst and mutation of the Gs alpha gene in ovarian cyst fluid cells: what is the link with McCune-Albright syndrome? Acta Paediatr1997 Sep;86(9):1019-21.

44.       Gribbon M, Ein SH, Mancer K. Pediatric malignant ovarian tumors: a 43-year review. J Pediatr Surg1992 Apr;27(4):480-4.

45.       Young RH, Dickersin GR, Scully RE. A distinctive ovarian sex cord-stromal tumor causing sexual precocity in the Peutz-Jeghers syndrome. Am J Surg Pathol1983 Apr;7(3):233-43.

46.       Lee PA, Van Dop C, Migeon CJ. McCune-Albright syndrome. Long-term follow-up. Jama1986 Dec 5;256(21):2980-4.

47.       Schwindinger WF, Francomano CA, Levine MA. 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 A1992 Jun 1;89(11):5152-6.

48.       Kim IS, Kim ER, Nam HJ, Chin MO, Moon YH, Oh MR, Yeo UC, Song SM, Kim JS, Uhm MR, Beck NS, Jin DK. Activating mutation of GS alpha in McCune-Albright syndrome causes skin pigmentation by tyrosinase gene activation on affected melanocytes. Horm Res1999;52(5):235-40.

49.       Sakamoto A, Oda Y, Iwamoto Y, Tsuneyoshi M. 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 Diagn2000 May;2(2):67-72.

50.       Riminucci M, Liu B, Corsi A, Shenker A, Spiegel AM, Robey PG, Bianco P. 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 Pathol1999 Jan;187(2):249-58.

51.       Hammami MM, al-Zahrani A, Butt A, Vencer LJ, Hussain SS. Primary hyperparathyroidism-associated polyostotic fibrous dysplasia: absence of McCune-Albright syndrome mutations. J Endocrinol Invest1997 Oct;20(9):552-8.

52.       Lumbroso S, Paris F, Sultan C. McCune-Albright syndrome: molecular genetics. J Pediatr Endocrinol Metab2002;15 Suppl 3:875-82.

53.       Feuillan PP, Jones J, Cutler GB, Jr. Long-term testolactone therapy for precocious puberty in girls with the McCune-Albright syndrome. J Clin Endocrinol Metab1993 Sep;77(3):647-51.

54.       Eugster EA, Rubin SD, Reiter EO, Plourde P, Jou HC, Pescovitz OH. Tamoxifen treatment for precocious puberty in McCune-Albright syndrome: a multicenter trial. J Pediatr2003 Jul;143(1):60-6.

55.       Volta C, Bernasconi S, Cisternino M, Buzi F, Ferzetti A, Street ME, Da Milano AM. Isolated premature thelarche and thelarche variant: clinical and auxological follow-up of 119 girls. J Endocrinol Invest1998 Mar;21(3):180-3.

56.       Murram D, Dewhurst J, Grant DB. Premature menarche: a follow-up study. Arch Dis Child1983 Feb;58(2):142-3.

57.       Ibanez L, Ong K, Potau N, Marcos MV, de Zegher F, Dunger D. Insulin gene variable number of tandem repeat genotype and the low birth weight, precocious pubarche, and hyperinsulinism sequence. J Clin Endocrinol Metab2001 Dec;86(12):5788-93.

58.       Reindollar RH, Byrd JR, McDonough PG. Delayed sexual development: a study of 252 patients. Am J Obstet Gynecol1981 Jun 15;140(4):371-80.

59.       Reindollar RH, Tho SPT, McDonough PG. Delayed puberty: an updated study of 326 patients. Transactions of The American Gynecological and Obstetrical Society1989;8:146--62.

60.       Sedlmeyer IL, Palmert MR. Delayed puberty: analysis of a large case series from an academic center. J Clin Endocrinol Metab2002 Apr;87(4):1613-20.

61.       Simpson JL. Genetic and phenotypic heterogeneity in ovarian failure: overview of selected candidate genes. Ann N Y Acad Sci2008;1135:146-54.

62.       Skillern A, Rajkovic A. Recent developments in identifying genetic determinants of premature ovarian failure. Sex Dev2008;2(4-5):228-43.

63.       Nilsson E, Dole G, Skinner M. Neurotrophin NT3 Promotes Ovarian Primordial to Primary Follicle Transition. Reproduction2009 Jul 7.

64.       Singh RP, Carr DH. The anatomy and histology of XO human embryos and fetuses. Anat Rec1966 Jul;155(3):369-83.

65.       Simpson JL, Rajkovic A. Ovarian differentiation and gonadal failure. Am J Med Genet1999 Dec 29;89(4):186-200.

66.       Gunther DF, Eugster E, Zagar AJ, Bryant CG, Davenport ML, Quigley CA. Ascertainment bias in Turner syndrome: new insights from girls who were diagnosed incidentally in prenatal life. Pediatrics2004 Sep;114(3):640-4.

67.       Sagi L, Zuckerman-Levin N, Gawlik A, Ghizzoni L, Buyukgebiz A, Rakover Y, Bistritzer T, Admoni O, Vottero A, Baruch O, Fares F, Malecka-Tendera E, Hochberg Z. Clinical significance of the parental origin of the X chromosome in turner syndrome. J Clin Endocrinol Metab2007 Mar;92(3):846-52.

68.       Ho VB, Bakalov VK, Cooley M, Van PL, Hood MN, Burklow TR, Bondy CA. Major vascular anomalies in Turner syndrome: prevalence and magnetic resonance angiographic features. Circulation2004 Sep 21;110(12):1694-700.

69.       Bondy CA. Care of girls and women with Turner syndrome: A guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab2007 Jan;92(1):10-25.

70.       Matura LA, Ho VB, Rosing DR, Bondy CA. Aortic dilatation and dissection in Turner syndrome. Circulation2007 Oct 9;116(15):1663-70.

71.       Lin AE, Lippe B, Rosenfeld RG. Further delineation of aortic dilation, dissection, and rupture in patients with Turner syndrome. Pediatrics1998 Jul;102(1):e12.

72.       Carlson M, Silberbach M. Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature. J Med Genet2007 Dec;44(12):745-9.

73.       ASRM OC. Increased maternal cardiovascular mortality associated with pregnancy in women with Turner syndrome. Fertil Steril2008 Nov;90(5 Suppl):S185-6.

74.       Bondy C, Rosing D, Reindollar R. Cardiovascular risks of pregnancy in women with Turner syndrome. Fertil Steril2009 May;91(5):e31-2; author reply e4.

75.       Karnis MF, Zimon A, Lalwani SI, L. T, Davis AJ, Reindollar RH. The safety of pregnancy by donor oocyte in patients with Turner syndrome: A national survey. J Soc Gynecol Investig2001;8(1):S85A.

76.       Sherman SL. Premature ovarian failure in the fragile X syndrome. Am J Med Genet2000 Fall;97(3):189-94.

77.       Nelson LM. Clinical practice. Primary ovarian insufficiency. N Engl J Med2009 Feb 5;360(6):606-14.

78.       Albright F, Smith PH, Fraser R. A Syndrome Characterized by Primary Ovarian Insufficiency and Decreased Stature:Report of 11 Cases With a Digression on Hormonal Control of Axillary and Pubic Hair. The American Journal of the Medical Sciences1942;204(5):625-48.

79.       Bachelot A, Rouxel A, Massin N, Dulon J, Courtillot C, Matuchansky C, Badachi Y, Fortin A, Paniel B, Lecuru F, Lefrere-Belda MA, Constancis E, Thibault E, Meduri G, Guiochon-Mantel A, Misrahi M, Kuttenn F, Touraine P. Phenotyping and genetic studies of 357 consecutive patients presenting with premature ovarian failure. Eur J Endocrinol2009 Jul;161(1):179-87.

80.       Swyer GI. Male pseudohermaphroditism: a hitherto undescribed form. Br Med J1955 Sep 17;2(4941):709-12.

81.       Canto P, Soderlund D, Reyes E, Mendez JP. Mutations in the desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis. J Clin Endocrinol Metab2004 Sep;89(9):4480-3.

82.       Tajima T, Fujiwara F, Fujieda K. A novel heterozygous mutation of steroidogenic factor-1 (SF-1/Ad4BP) gene (NR5A1) in a 46, XY disorders of sex development (DSD) patient without adrenal failure. Endocr J2009 Aug;56(4):619-24.

83.       Zinn AR, Ross JL. Turner syndrome and haploinsufficiency. Curr Opin Genet Dev1998 Jun;8(3):322-7.

84.       Davison RM, Fox M, Conway GS. Mapping of the POF1 locus and identification of putative genes for premature ovarian failure. Mol Hum Reprod2000 Apr;6(4):314-8.

85.       Sullivan AK, Marcus M, Epstein MP, Allen EG, Anido AE, Paquin JJ, Yadav-Shah M, Sherman SL. Association of FMR1 repeat size with ovarian dysfunction. Hum Reprod2005 Feb;20(2):402-12.

86.       Sala C, Arrigo G, Torri G, Martinazzi F, Riva P, Larizza L, Philippe C, Jonveaux P, Sloan F, Labella T, Toniolo D. Eleven X chromosome breakpoints associated with premature ovarian failure (POF) map to a 15-Mb YAC contig spanning Xq21. Genomics1997 Feb 15;40(1):123-31.

87.       Bione S, Sala C, Manzini C, Arrigo G, Zuffardi O, Banfi S, Borsani G, Jonveaux P, Philippe C, Zuccotti M, Ballabio A, Toniolo D. 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 Genet1998 Mar;62(3):533-41.

88.       Dube JL, Wang P, Elvin J, Lyons KM, Celeste AJ, Matzuk MM. The bone morphogenetic protein 15 gene is X-linked and expressed in oocytes. Mol Endocrinol1998 Dec;12(12):1809-17.

89.       Di Pasquale E, Beck-Peccoz P, Persani L. Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene. Am J Hum Genet2004 Jul;75(1):106-11.

90.       Zhang P, Shi YH, Wang LC, Chen ZJ. Sequence variants in exons of the BMP-15 gene in Chinese patients with premature ovarian failure. Acta Obstet Gynecol Scand2007;86(5):585-9.

91.       Chand AL, Ponnampalam AP, Harris SE, Winship IM, Shelling AN. Mutational analysis of BMP15 and GDF9 as candidate genes for premature ovarian failure. Fertil Steril2006 Oct;86(4):1009-12.

92.       Murray A, Webb J, Dennis N, Conway G, Morton N. Microdeletions in FMR2 may be a significant cause of premature ovarian failure. J Med Genet1999 Oct;36(10):767-70.

93.       Ahonen P, Myllarniemi S, Sipila I, Perheentupa J. Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients. N Engl J Med1990 Jun 28;322(26):1829-36.

94.       Crisponi L, Deiana M, Loi A, Chiappe F, Uda M, Amati P, Bisceglia L, Zelante L, Nagaraja R, Porcu S, Ristaldi MS, Marzella R, Rocchi M, Nicolino M, Lienhardt-Roussie A, Nivelon A, Verloes A, Schlessinger D, Gasparini P, Bonneau D, Cao A, Pilia G. The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nat Genet2001 Feb;27(2):159-66.

95.       Guerrero NV, Singh RH, Manatunga A, Berry GT, Steiner RD, Elsas LJ, 2nd. Risk factors for premature ovarian failure in females with galactosemia. J Pediatr2000 Dec;137(6):833-41.

96.       Shelling AN, Burton KA, Chand AL, van Ee CC, France JT, Farquhar CM, Milsom SR, Love DR, Gersak K, Aittomaki K, Winship IM. Inhibin: a candidate gene for premature ovarian failure. Hum Reprod2000 Dec;15(12):2644-9.

97.       Dixit H, Deendayal M, Singh L. Mutational analysis of the mature peptide region of inhibin genes in Indian women with ovarian failure. Hum Reprod2004 Aug;19(8):1760-4.

98.       Lourenco D, Brauner R, Lin L, De Perdigo A, Weryha G, Muresan M, Boudjenah R, Guerra-Junior G, Maciel-Guerra AT, Achermann JC, McElreavey K, Bashamboo A. Mutations in NR5A1 associated with ovarian insufficiency. N Engl J Med2009 Mar 19;360(12):1200-10.

99.       Qin Y, Choi Y, Zhao H, Simpson JL, Chen ZJ, Rajkovic A. NOBOX homeobox mutation causes premature ovarian failure. Am J Hum Genet2007 Sep;81(3):576-81.

100.     Aittomaki K, Herva R, Stenman UH, Juntunen K, Ylostalo P, Hovatta O, de la Chapelle A. Clinical features of primary ovarian failure caused by a point mutation in the follicle-stimulating hormone receptor gene. J Clin Endocrinol Metab1996 Oct;81(10):3722-6.

101.     Aittomaki K, Lucena JL, Pakarinen P, Sistonen P, Tapanainen J, Gromoll J, Kaskikari R, Sankila EM, Lehvaslaiho H, Engel AR, et al. Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell1995 Sep 22;82(6):959-68.

102.     Jiang M, Aittomaki K, Nilsson C, Pakarinen P, Iitia A, Torresani T, Simonsen H, Goh V, Pettersson K, de la Chapelle A, Huhtaniemi I. 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 Metab1998 Dec;83(12):4338-43.

103.     Beau I, Touraine P, Meduri G, Gougeon A, Desroches A, Matuchansky C, Milgrom E, Kuttenn F, Misrahi M. A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor. J Clin Invest1998 Oct 1;102(7):1352-9.

104.     Doherty E, Pakarinen P, Tiitinen A, Kiilavuori A, Huhtaniemi I, Forrest S, Aittomaki K. A Novel mutation in the FSH receptor inhibiting signal transduction and causing primary ovarian failure. J Clin Endocrinol Metab2002 Mar;87(3):1151-5.

105.     Arnhold IJ, Latronico AC, Batista MC, Carvalho FM, Chrousos GP, Mendonca BB. Ovarian resistance to luteinizing hormone: a novel cause of amenorrhea and infertility. Fertil Steril1997 Feb;67(2):394-7.

106.     Arnhold IJ, Latronico AC, Batista MC, Izzo CR, Mendonca BB. Clinical features of women with resistance to luteinizing hormone. Clin Endocrinol (Oxf)1999 Dec;51(6):701-7.

107.     Arnhold IJ, Latronico AC, Batista MC, Mendonca BB. Menstrual disorders and infertility caused by inactivating mutations of the luteinizing hormone receptor gene. Fertil Steril1999 Apr;71(4):597-601.

108.     Beck-Peccoz P, Romoli R, Persani L. Mutations of LH and FSH receptors. J Endocrinol Invest2000 Oct;23(9):566-72.

109.     Latronico AC, Anasti J, Arnhold IJ, Mendonca BB, Domenice S, Albano MC, Zachman K, Wajchenberg BL, Tsigos C. A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty. J Clin Endocrinol Metab1995 Aug;80(8):2490-4.

110.     Huhtaniemi IT, Aittomaki K. Mutations of follicle-stimulating hormone and its receptor: effects on gonadal function. Eur J Endocrinol1998 May;138(5):473-81.

111.     Layman LC, Lee EJ, Peak DB, Namnoum AB, Vu KV, van Lingen BL, Gray MR, McDonough PG, Reindollar RH, Jameson JL. Delayed puberty and hypogonadism caused by mutations in the follicle-stimulating hormone beta-subunit gene. N Engl J Med1997 Aug 28;337(9):607-11.

112.     Fardella CE, Hum DW, Homoki J, Miller WL. Point mutation of Arg440 to His in cytochrome P450c17 causes severe 17 alpha-hydroxylase deficiency. J Clin Endocrinol Metab1994 Jul;79(1):160-4.

113.     Monno S, Mizushima Y, Toyoda N, Kashii T, Kobayashi M. A new variant of the cytochrome P450c17 (CYP17) gene mutation in three patients with 17 alpha-hydroxylase deficiency. Ann Hum Genet1997 May;61 ( Pt 3):275-9.

114.     Bulun SE. Clinical review 78: Aromatase deficiency in women and men: would you have predicted the phenotypes? J Clin Endocrinol Metab1996 Mar;81(3):867-71.

115.     Bulun SE. Aromatase deficiency and estrogen resistance: from molecular genetics to clinic. Semin Reprod Med2000;18(1):31-9.

116.     Mullis PE, Yoshimura N, Kuhlmann B, Lippuner K, Jaeger P, Harada H. 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 Metab1997 Jun;82(6):1739-45.

117.     Biason-Lauber A, Konrad D, Meyer M, DeBeaufort C, Schoenle EJ. Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene. Am J Hum Genet2009 May;84(5):658-63.

118.     Muller U. Mapping of testis-determining locus on Yp by the molecular genetic analysis of XX males and XY females. Development1987;101 Suppl:51-8.

119.     Hawkins JR. Mutational analysis of SRY in XY females. Hum Mutat1993;2(5):347-50.

120.     Hawkins JR, Taylor A, Berta P, Levilliers J, Van der Auwera B, Goodfellow PN. Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal. Hum Genet1992 Feb;88(4):471-4.

121.     Ikeda Y. [The genes in the molecular cascade of the mammalian sexual development]. Nippon Rinsho1997 Nov;55(11):2809-15.

122.     Nordqvist K. Sex differentiation -- gonadogenesis and novel genes. Int J Dev Biol1995 Oct;39(5):727-36.

123.     Giordano J, Prior HM, Bamforth JS, Walter MA. Genetic study of SOX9 in a case of campomelic dysplasia. Am J Med Genet2001 Jan 15;98(2):176-81.

124.     Huang B, Wang S, Ning Y, Lamb AN, Bartley J. Autosomal XX sex reversal caused by duplication of SOX9. Am J Med Genet1999 Dec 3;87(4):349-53.

125.     Kwok C, Weller PA, Guioli S, Foster JW, Mansour S, Zuffardi O, Punnett HH, Dominguez-Steglich MA, Brook JD, Young ID, et al. Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal. Am J Hum Genet1995 Nov;57(5):1028-36.

126.     McElreavey K, Fellous M. Sex determination and the Y chromosome. Am J Med Genet1999 Dec 29;89(4):176-85.

127.     Bardoni B, Zanaria E, Guioli S, Floridia G, Worley KC, Tonini G, Ferrante E, Chiumello G, McCabe ER, Fraccaro M, et al. A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nat Genet1994 Aug;7(4):497-501.

128.     Ozisik G, Achermann JC, Jameson JL. The role of SF1 in adrenal and reproductive function: insight from naturally occurring mutations in humans. Mol Genet Metab2002 Jun;76(2):85-91.

129.     Vinci G, Brauner R, Tar A, Rouba H, Sheth J, Sheth F, Ravel C, McElreavey K, Bashamboo A. Mutations in the TSPYL1 gene associated with 46,XY DSD and male infertility. Fertil Steril2009 May 20.

130.     Joss EE, Mullis PE, Werder EA, Partsch CJ, Sippell WG. 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 Res1997;47(3):102-9.

131.     Chernausek SD, Attie KM, Cara JF, Rosenfeld RG, Frane J. Growth hormone therapy of Turner syndrome: the impact of age of estrogen replacement on final height. Genentech, Inc., Collaborative Study Group. J Clin Endocrinol Metab2000 Jul;85(7):2439-45.

132.     Schweizer R, Ranke MB, Binder G, Herdach F, Zapadlo M, Grauer ML, Schwarze CP, Wollmann HA. 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 Res2000;53(5):228-38.

133.     Reiter EO, Blethen SL, Baptista J, Price L. Early initiation of growth hormone treatment allows age-appropriate estrogen use in Turner's syndrome. J Clin Endocrinol Metab2001 May;86(5):1936-41.

134.     Ranke MB, Lindberg A, Chatelain P, Wilton P, Cutfield W, Albertsson-Wikland K, Price DA. Predicting the response to recombinant human growth hormone in Turner syndrome: KIGS models. KIGS International Board. Kabi International Growth Study. Acta Paediatr Suppl1999 Dec;88(433):122-5.

135.     Binder G, Schwarze CP, Ranke MB. Identification of short stature caused by SHOX defects and therapeutic effect of recombinant human growth hormone. J Clin Endocrinol Metab2000 Jan;85(1):245-9.

136.     Haverkamp F, Ranke MB. The ethical dilemma of growth hormone treatment of short stature: a scientific theoretical approach. Horm Res1999 Dec;51(6):301-4.

137.     Ranke MB, Lindberg A, Chatelain P, Wilton P, Cutfield W, Albertsson-Wikland K, Price DA. 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 Metab2000 Nov;85(11):4212-8.

138.     Carel JC. Growth hormone in Turner syndrome: twenty years after, what can we tell our patients? J Clin Endocrinol Metab2005 Jun;90(6):3793-4.

139.     Bannink EM, Raat H, Mulder PG, de Muinck Keizer-Schrama SM. Quality of life after growth hormone therapy and induced puberty in women with Turner syndrome. J Pediatr2006 Jan;148(1):95-101.

140.     Matura LA, Sachdev V, Bakalov VK, Rosing DR, Bondy CA. Growth hormone treatment and left ventricular dimensions in Turner syndrome. J Pediatr2007 Jun;150(6):587-91.

141.     Davenport ML, Crowe BJ, Travers SH, Rubin K, Ross JL, Fechner PY, Gunther DF, Liu C, Geffner ME, Thrailkill K, Huseman C, Zagar AJ, Quigley CA. Growth hormone treatment of early growth failure in toddlers with Turner syndrome: a randomized, controlled, multicenter trial. J Clin Endocrinol Metab2007 Sep;92(9):3406-16.

142.     Bolar K, Hoffman AR, Maneatis T, Lippe B. Long-term safety of recombinant human growth hormone in turner syndrome. J Clin Endocrinol Metab2008 Feb;93(2):344-51.

143.     van den Berg J, Bannink EM, Wielopolski PA, Hop WC, van Osch-Gevers L, Pattynama PM, de Muinck Keizer-Schrama SM, Helbing WA. Cardiac status after childhood growth hormone treatment of Turner syndrome. J Clin Endocrinol Metab2008 Jul;93(7):2553-8.

144.     Reiter EO. Growth hormone: new ideas, recurring themes. Endocrine2001 Jun;15(1):1-4.

145.     Reiter EO, Attie KM, Moshang T, Jr., Silverman BL, Kemp SF, Neuwirth RB, Ford KM, Saenger P. 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 Metab2001 Oct;86(10):4700-6.

146.     Whitcomb RW, Crowley WF, Jr. Clinical review 4: Diagnosis and treatment of isolated gonadotropin-releasing hormone deficiency in men. J Clin Endocrinol Metab1990 Jan;70(1):3-7.

147.     Kim HG, Bhagavath B, Layman LC. Clinical manifestations of impaired GnRH neuron development and function. Neurosignals2008;16(2-3):165-82.

148.     Crowley WF, Jr., Pitteloud N, Seminara S. New genes controlling human reproduction and how you find them. Trans Am Clin Climatol Assoc2008;119:29-37; discussion -8.

149.     Layman LC, McDonough PG, Cohen DP, Maddox M, Tho SP, Reindollar RH. Familial gonadotropin-releasing hormone resistance and hypogonadotropic hypogonadism in a family with multiple affected individuals. Fertil Steril2001 Jun;75(6):1148-55.

150.     Raivio T, Falardeau J, Dwyer A, Quinton R, Hayes FJ, Hughes VA, Cole LW, Pearce SH, Lee H, Boepple P, Crowley WF, Jr., Pitteloud N. Reversal of idiopathic hypogonadotropic hypogonadism. N Engl J Med2007 Aug 30;357(9):863-73.

151.     Montague CT, Farooqi IS, Whitehead JP, Soos MA, Rau H, Wareham NJ, Sewter CP, Digby JE, Mohammed SN, Hurst JA, Cheetham CH, Earley AR, Barnett AH, Prins JB, O'Rahilly S. Congenital leptin deficiency is associated with severe early-onset obesity in humans. Nature1997 Jun 26;387(6636):903-8.

152.     Seminara SB, Achermann JC, Genel M, Jameson JL, Crowley WF, Jr. X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females. J Clin Endocrinol Metab1999 Dec;84(12):4501-9.

153.     Strobel A, Issad T, Camoin L, Ozata M, Strosberg AD. A leptin missense mutation associated with hypogonadism and morbid obesity. Nat Genet1998 Mar;18(3):213-5.

154.     Gibson WT, Farooqi IS, Moreau M, DePaoli AM, Lawrence E, O'Rahilly S, Trussell RA. Congenital leptin deficiency due to homozygosity for the Delta133G mutation: report of another case and evaluation of response to four years of leptin therapy. J Clin Endocrinol Metab2004 Oct;89(10):4821-6.

155.     Farooqi IS, Matarese G, Lord GM, Keogh JM, Lawrence E, Agwu C, Sanna V, Jebb SA, Perna F, Fontana S, Lechler RI, DePaoli AM, O'Rahilly S. Beneficial effects of leptin on obesity, T cell hyporesponsiveness, and neuroendocrine/metabolic dysfunction of human congenital leptin deficiency. J Clin Invest2002 Oct;110(8):1093-103.

156.     Clement K, Vaisse C, Lahlou N, Cabrol S, Pelloux V, Cassuto D, Gourmelen M, Dina C, Chambaz J, Lacorte JM, Basdevant A, Bougneres P, Lebouc Y, Froguel P, Guy-Grand B. A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction. Nature1998 Mar 26;392(6674):398-401.

157.     Licinio J, Caglayan S, Ozata M, Yildiz BO, de Miranda PB, O'Kirwan F, Whitby R, Liang L, Cohen P, Bhasin S, Krauss RM, Veldhuis JD, Wagner AJ, DePaoli AM, McCann SM, Wong ML. Phenotypic effects of leptin replacement on morbid obesity, diabetes mellitus, hypogonadism, and behavior in leptin-deficient adults. Proc Natl Acad Sci U S A2004 Mar 30;101(13):4531-6.

158.     Farooqi IS, Wangensteen T, Collins S, Kimber W, Matarese G, Keogh JM, Lank E, Bottomley B, Lopez-Fernandez J, Ferraz-Amaro I, Dattani MT, Ercan O, Myhre AG, Retterstol L, Stanhope R, Edge JA, McKenzie S, Lessan N, Ghodsi M, De Rosa V, Perna F, Fontana S, Barroso I, Undlien DE, O'Rahilly S. Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor. N Engl J Med2007 Jan 18;356(3):237-47.

159.     Dattani MT, Martinez-Barbera JP, Thomas PQ, Brickman JM, Gupta R, Martensson IL, Toresson H, Fox M, Wales JK, Hindmarsh PC, Krauss S, Beddington RS, Robinson IC. Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse. Nat Genet1998 Jun;19(2):125-33.

160.     Thomas PQ, Dattani MT, Brickman JM, McNay D, Warne G, Zacharin M, Cameron F, Hurst J, Woods K, Dunger D, Stanhope R, Forrest S, Robinson IC, Beddington RS. Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia. Hum Mol Genet2001 Jan 1;10(1):39-45.

161.     Kim SS, Kim Y, Shin YL, Kim GH, Kim TU, Yoo HW. Clinical characteristics and molecular analysis of PIT1, PROP1,LHX3, and HESX1 in combined pituitary hormone deficiency patients with abnormal pituitary MR imaging. Horm Res2003;60(6):277-83.

162.     Park JK, Ozata M, Chorich LP, Cheng L, Bick DP, Sherins RJ, Ozdemir IC, Bolu E, Cogan JD, Phillips JA, Layman LC. Analysis of the PROP1 gene in a large cohort of patients with idiopathic hypogonadotropic hypogonadism. Clin Endocrinol (Oxf)2004 Jan;60(1):147-9.

163.     Netchine I, Sobrier ML, Krude H, Schnabel D, Maghnie M, Marcos E, Duriez B, Cacheux V, Moers A, Goossens M, Gruters A, Amselem S. Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency. Nat Genet2000 Jun;25(2):182-6.

164.     Sloop KW, Parker GE, Hanna KR, Wright HA, Rhodes SJ. LHX3 transcription factor mutations associated with combined pituitary hormone deficiency impair the activation of pituitary target genes. Gene2001 Mar 7;265(1-2):61-9.

165.     Vissers LE, van Ravenswaaij CM, Admiraal R, Hurst JA, de Vries BB, Janssen IM, van der Vliet WA, Huys EH, de Jong PJ, Hamel BC, Schoenmakers EF, Brunner HG, Veltman JA, van Kessel AG. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet2004 Sep;36(9):955-7.

166.     Lalani SR, Safiullah AM, Fernbach SD, Harutyunyan KG, Thaller C, Peterson LE, McPherson JD, Gibbs RA, White LD, Hefner M, Davenport SL, Graham JM, Bacino CA, Glass NL, Towbin JA, Craigen WJ, Neish SR, Lin AE, Belmont JW. Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet2006 Feb;78(2):303-14.

167.     Franco B, Guioli S, Pragliola A, Incerti B, Bardoni B, Tonlorenzi R, Carrozzo R, Maestrini E, Pieretti M, Taillon-Miller P, et al. A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. Nature1991 Oct 10;353(6344):529-36.

168.     Legouis R, Hardelin JP, Levilliers J, Claverie JM, Compain S, Wunderle V, Millasseau P, Le Paslier D, Cohen D, Caterina D, et al. The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules. Cell1991 Oct 18;67(2):423-35.

169.     Bick D, Franco B, Sherins RJ, Heye B, Pike L, Crawford J, Maddalena A, Incerti B, Pragliola A, Meitinger T, et al. Brief report: intragenic deletion of the KALIG-1 gene in Kallmann's syndrome. N Engl J Med1992 Jun 25;326(26):1752-5.

170.     Hardelin JP, Levilliers J, Blanchard S, Carel JC, Leutenegger M, Pinard-Bertelletto JP, Bouloux P, Petit C. Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome. Hum Mol Genet1993 Apr;2(4):373-7.

171.     Hardelin JP, Levilliers J, Young J, Pholsena M, Legouis R, Kirk J, Bouloux P, Petit C, Schaison G. Xp22.3 deletions in isolated familial Kallmann's syndrome. J Clin Endocrinol Metab1993 Apr;76(4):827-31.

172.     Oliveira LM, Seminara SB, Beranova M, Hayes FJ, Valkenburgh SB, Schipani E, Costa EM, Latronico AC, Crowley WF, Jr., Vallejo M. The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics. J Clin Endocrinol Metab2001 Apr;86(4):1532-8.

173.     Seminara SB, Oliveira LM, Beranova M, Hayes FJ, Crowley WF, Jr. Genetics of hypogonadotropic hypogonadism. J Endocrinol Invest2000 Oct;23(9):560-5.

174.     Beranova M, Oliveira LM, Bedecarrats GY, Schipani E, Vallejo M, Ammini AC, Quintos JB, Hall JE, Martin KA, Hayes FJ, Pitteloud N, Kaiser UB, Crowley WF, Jr., Seminara SB. Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropin-releasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadism. J Clin Endocrinol Metab2001 Apr;86(4):1580-8.

175.     Costa EM, Bedecarrats GY, Mendonca BB, Arnhold IJ, Kaiser UB, Latronico AC. Two novel mutations in the gonadotropin-releasing hormone receptor gene in Brazilian patients with hypogonadotropic hypogonadism and normal olfaction. J Clin Endocrinol Metab2001 Jun;86(6):2680-6.

176.     de Roux N, Milgrom E. Inherited disorders of GnRH and gonadotropin receptors. Mol Cell Endocrinol2001 Jun 20;179(1-2):83-7.

177.     Layman LC, Peak DB, Xie J, Sohn SH, Reindollar RH, Gray MR. Mutation analysis of the gonadotropin-releasing hormone receptor gene in idiopathic hypogonadotropic hypogonadism. Fertil Steril1997 Dec;68(6):1079-85.

178.     Chan YM, de Guillebon A, Lang-Muritano M, Plummer L, Cerrato F, Tsiaras S, Gaspert A, Lavoie HB, Wu CH, Crowley WF, Jr., Amory JK, Pitteloud N, Seminara SB. GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism. Proc Natl Acad Sci U S A2009 Jul 14;106(28):11703-8.

179.     Jackson RS, Creemers JW, Ohagi S, Raffin-Sanson ML, Sanders L, Montague CT, Hutton JC, O'Rahilly S. Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene. Nat Genet1997 Jul;16(3):303-6.

180.     O'Rahilly S, Gray H, Humphreys PJ, Krook A, Polonsky KS, White A, Gibson S, Taylor K, Carr C. Brief report: impaired processing of prohormones associated with abnormalities of glucose homeostasis and adrenal function. N Engl J Med1995 Nov 23;333(21):1386-90.

181.     Jackson RS, Creemers JW, Farooqi IS, Raffin-Sanson ML, Varro A, Dockray GJ, Holst JJ, Brubaker PL, Corvol P, Polonsky KS, Ostrega D, Becker KL, Bertagna X, Hutton JC, White A, Dattani MT, Hussain K, Middleton SJ, Nicole TM, Milla PJ, Lindley KJ, O'Rahilly S. Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency. J Clin Invest2003 Nov;112(10):1550-60.

182.     Dode C, Levilliers J, Dupont JM, De Paepe A, Le Du N, Soussi-Yanicostas N, Coimbra RS, Delmaghani S, Compain-Nouaille S, Baverel F, Pecheux C, Le Tessier D, Cruaud C, Delpech M, Speleman F, Vermeulen S, Amalfitano A, Bachelot Y, Bouchard P, Cabrol S, Carel JC, Delemarre-van de Waal H, Goulet-Salmon B, Kottler ML, Richard O, Sanchez-Franco F, Saura R, Young J, Petit C, Hardelin JP. Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet2003 Apr;33(4):463-5.

183.     Albuisson J, Pecheux C, Carel JC, Lacombe D, Leheup B, Lapuzina P, Bouchard P, Legius E, Matthijs G, Wasniewska M, Delpech M, Young J, Hardelin JP, Dode C. Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2). Hum Mutat2005 Jan;25(1):98-9.

184.     Pitteloud N, Acierno JS, Jr., Meysing AU, Dwyer AA, Hayes FJ, Crowley WF, Jr. Reversible kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene. J Clin Endocrinol Metab2005 Mar;90(3):1317-22.

185.     Sato N, Ohyama K, Fukami M, Okada M, Ogata T. Kallmann syndrome: somatic and germline mutations of the fibroblast growth factor receptor 1 gene in a mother and the son. J Clin Endocrinol Metab2006 Apr;91(4):1415-8.

186.     Pitteloud N, Acierno JS, Jr., Meysing A, Eliseenkova AV, Ma J, Ibrahimi OA, Metzger DL, Hayes FJ, Dwyer AA, Hughes VA, Yialamas M, Hall JE, Grant E, Mohammadi M, Crowley WF, Jr. Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. Proc Natl Acad Sci U S A2006 Apr 18;103(16):6281-6.

187.     Xu N, Qin Y, Reindollar RH, Tho SP, McDonough PG, Layman LC. A mutation in the fibroblast growth factor receptor 1 gene causes fully penetrant normosmic isolated hypogonadotropic hypogonadism. J Clin Endocrinol Metab2007 Mar;92(3):1155-8.

188.     Falardeau J, Chung WC, Beenken A, Raivio T, Plummer L, Sidis Y, Jacobson-Dickman EE, Eliseenkova AV, Ma J, Dwyer A, Quinton R, Na S, Hall JE, Huot C, Alois N, Pearce SH, Cole LW, Hughes V, Mohammadi M, Tsai P, Pitteloud N. Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice. J Clin Invest2008 Aug;118(8):2822-31.

189.     Cole LW, Sidis Y, Zhang C, Quinton R, Plummer L, Pignatelli D, Hughes VA, Dwyer AA, Raivio T, Hayes FJ, Seminara SB, Huot C, Alos N, Speiser P, Takeshita A, Van Vliet G, Pearce S, Crowley WF, Jr., Zhou QY, Pitteloud N. Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum. J Clin Endocrinol Metab2008 Sep;93(9):3551-9.

190.     Kim HG, Kurth I, Lan F, Meliciani I, Wenzel W, Eom SH, Kang GB, Rosenberger G, Tekin M, Ozata M, Bick DP, Sherins RJ, Walker SL, Shi Y, Gusella JF, Layman LC. Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet2008 Oct;83(4):511-9.

191.     de Roux N, Genin E, Carel JC, Matsuda F, Chaussain JL, Milgrom E. Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54. Proc Natl Acad Sci U S A2003 Sep 16;100(19):10972-6.

192.     Seminara SB, Messager S, Chatzidaki EE, Thresher RR, Acierno JS, Jr., Shagoury JK, Bo-Abbas Y, Kuohung W, Schwinof KM, Hendrick AG, Zahn D, Dixon J, Kaiser UB, Slaugenhaupt SA, Gusella JF, O'Rahilly S, Carlton MB, Crowley WF, Jr., Aparicio SA, Colledge WH. The GPR54 gene as a regulator of puberty. N Engl J Med2003 Oct 23;349(17):1614-27.

193.     Mendonca BB, Osorio MG, Latronico AC, Estefan V, Lo LS, Arnhold IJ. 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 Metab1999 Mar;84(3):942-5.

194.     Kelberman D, Rizzoti K, Avilion A, Bitner-Glindzicz M, Cianfarani S, Collins J, Chong WK, Kirk JM, Achermann JC, Ross R, Carmignac D, Lovell-Badge R, Robinson IC, Dattani MT. Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans. J Clin Invest2006 Sep;116(9):2442-55.

195.     Laumonnier F, Ronce N, Hamel BC, Thomas P, Lespinasse J, Raynaud M, Paringaux C, Van Bokhoven H, Kalscheuer V, Fryns JP, Chelly J, Moraine C, Briault S. Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency. Am J Hum Genet2002 Dec;71(6):1450-5.

196.     Machinis K, Pantel J, Netchine I, Leger J, Camand OJ, Sobrier ML, Dastot-Le Moal F, Duquesnoy P, Abitbol M, Czernichow P, Amselem S. Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4. Am J Hum Genet2001 Nov;69(5):961-8.

197.     Tajima T, Hattori T, Nakajima T, Okuhara K, Tsubaki J, Fujieda K. A novel missense mutation (P366T) of the LHX4 gene causes severe combined pituitary hormone deficiency with pituitary hypoplasia, ectopic posterior lobe and a poorly developed sella turcica. Endocr J2007 Aug;54(4):637-41.

198.     Lofrano-Porto A, Barra GB, Giacomini LA, Nascimento PP, Latronico AC, Casulari LA, da Rocha Neves Fde A. Luteinizing hormone beta mutation and hypogonadism in men and women. N Engl J Med2007 Aug 30;357(9):897-904.

199.     Achermann JC, Gu WX, Kotlar TJ, Meeks JJ, Sabacan LP, Seminara SB, Habiby RL, Hindmarsh PC, Bick DP, Sherins RJ, Crowley WF, Jr., Layman LC, Jameson JL. Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay. J Clin Endocrinol Metab1999 Dec;84(12):4497-500.

200.     Merke DP, Tajima T, Baron J, Cutler GB, Jr. Hypogonadotropic hypogonadism in a female caused by an X-linked recessive mutation in the DAX1 gene. N Engl J Med1999 Apr 22;340(16):1248-52.

201.     Pitteloud N, Quinton R, Pearce S, Raivio T, Acierno J, Dwyer A, Plummer L, Hughes V, Seminara S, Cheng YZ, Li WP, Maccoll G, Eliseenkova AV, Olsen SK, Ibrahimi OA, Hayes FJ, Boepple P, Hall JE, Bouloux P, Mohammadi M, Crowley W. Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism. J Clin Invest2007 Feb;117(2):457-63.

202.     Davis AJ, Hostetler B, Reindollar RH. Canalization failure of the mullerian tract. Fertil Steril1992 Oct;58(4):826-8.

203.     Petrozza JC, Gray MR, Davis AJ, Reindollar RH. Congenital absence of the uterus and vagina is not commonly transmitted as a dominant genetic trait: outcomes of surrogate pregnancies. Fertil Steril1997 Feb;67(2):387-9.

204.     Timmreck LS, Gray MR, Handelin B, Allito B, Rohlfs E, Davis AJ, G. G, Reindollar RH. Cystic fibrosis transmembrane conductance regulator gene mutations in patients with congenital absence of the uterus and vagina. In Press2002.

205.     Resendes BL, Sohn SH, Stelling JR, Tineo R, Davis AJ, Gray MR, Reindollar RH. Role for anti-Mullerian hormone in congenital absence of the uterus and vagina. Am J Med Genet2001 Jan 15;98(2):129-36.

206.     Lalwani SI, Karnis MF, Timmreck LS, Reindollar RH, Gray MR. HOXA10 mutation analysis in women with congenital absence of the uterus and vagina. J Soc Gynecol Investig2001;8(1):162A.

207.     Lalwani S, Wu HH, Reindollar RH, Gray MR. HOXA10 mutations in congenital absence of uterus and vagina. Fertil Steril2008 Feb;89(2):325-30.

208.     Karnis MF, Stelling JR, Lalwani SI, Bhagavath B, Pan HA, Davis AJ, Reindollar RH, Gray MR. Mutation analysis of the HOXA13 gene in patients with congenital absence of the uterus and vagina. J Soc Gynecol Investig2000;7(1):S172A.

209.     van Lingen BL, Eccles MR, Reindollar RH, Gray MR. Molecular genetic analysis of the PAX2 gene in patients with congenital absence of the uterus and vagina. Fertil Steril1998;70:S402.

210.     van Lingen BL, Reindollar RH, Davis AJ, Gray MR. Further evidence that the WT1 gene does not have a role in the development of the derivatives of the mullerian duct. Am J Obstet Gynecol1998 Sep;179(3 Pt 1):597-603.

211.     Wu H-H, Reindollar Richard H, Gray MR. Analysis of the WNT-4 gene in women with congenital absence of the uterus and vagina. Fertil Steril. [Abstract]. 2002 September 2002;78(3, Suppl. 1):S169-S70.

212.     Burel A, Mouchel T, Odent S, Tiker F, Knebelmann B, Pellerin I, Guerrier D. Role of HOXA7 to HOXA13 and PBX1 genes in various forms of MRKH syndrome (congenital absence of uterus and vagina). J Negat Results Biomed2006;5:4.

213.     Drummond JB, Rezende CF, Peixoto FC, Carvalho JS, Reis FM, De Marco L. Molecular analysis of the beta-catenin gene in patients with the Mayer-Rokitansky-Kuster-Hauser syndrome. J Assist Reprod Genet2008 Nov-Dec;25(11-12):511-4.

214.     Cheroki C, Krepischi-Santos AC, Rosenberg C, Jehee FS, Mingroni-Netto RC, Pavanello Filho I, Zanforlin Filho S, Kim CA, Bagnoli VR, Mendonca BB, Szuhai K, Otto PA. Report of a del22q11 in a patient with Mayer-Rokitansky-Kuster-Hauser (MRKH) anomaly and exclusion of WNT-4, RAR-gamma, and RXR-alpha as major genes determining MRKH anomaly in a study of 25 affected women. Am J Med Genet A2006 Jun 15;140(12):1339-42.

215.     Biason-Lauber A, Konrad D, Navratil F, Schoenle EJ. A WNT4 mutation associated with Mullerian-duct regression and virilization in a 46,XX woman. N Engl J Med2004 Aug 19;351(8):792-8.

216.     Biason-Lauber A, De Filippo G, Konrad D, Scarano G, Nazzaro A, Schoenle EJ. WNT4 deficiency--a clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome: a case report. Hum Reprod2007 Jan;22(1):224-9.

217.     Philibert P, Biason-Lauber A, Rouzier R, Pienkowski C, Paris F, Konrad D, Schoenle E, Sultan C. Identification and functional analysis of a new WNT4 gene mutation among 28 adolescent girls with primary amenorrhea and mullerian duct abnormalities: a French collaborative study. J Clin Endocrinol Metab2008 Mar;93(3):895-900.

218.     Vainio S, Heikkila M, Kispert A, Chin N, McMahon AP. Female development in mammals is regulated by Wnt-4 signalling. Nature1999 Feb 4;397(6718):405-9.

219.     Clement-Ziza M, Khen N, Gonzales J, Cretolle-Vastel C, Picard JY, Tullio-Pelet A, Besmond C, Munnich A, Lyonnet S, Nihoul-Fekete C. Exclusion of WNT4 as a major gene in Rokitansky-Kuster-Hauser anomaly. Am J Med Genet A2005 Aug 15;137(1):98-9.

220.     Zimon A, M. G, Lalwani S, Berger MJ, Ryley DA, Reindollar RH. Ovarian steroidogenesis and oocyte number is not impaired in women with müllerian agenesis: Further evidence that a defect in WNT4 is not a common cause of this syndrome. Fertil Steril. [Abstract]. 2005 September  2005;84(Suppl. 1):S310-S1.

221.     Steinkampf MP, Dharia SP, Dickerson RD. Monozygotic twins discordant for vaginal agenesis and bilateral tibial longitudinal deficiency. Fertil Steril2003 Sep;80(3):643-5.

222.     Cooper MJ, Fleming S, Murray J. Laparoscopic assisted vecchietti procedure for the creation of a neovagina. J Obstet Gynaecol Res1996 Aug;22(4):385-8.

223.     Fedele L, Busacca M, Candiani M, Vignali M. Laparoscopic creation of a neovagina in Mayer-Rokitansky-Kuster-Hauser syndrome by modification of Vecchietti's operation. Am J Obstet Gynecol1994 Jul;171(1):268-9.

224.     Hanzal E, Kolbl H, Janisch H. [Morphologic and functional long-term results after Vecchietti operation for the formation of a neovagina]. Geburtshilfe Frauenheilkd1991 Jul;51(7):563-8.

225.     Pelzer V, Graf M. [The segmented phantom insert for the formation of a neovagina according to Vecchietti]. Geburtshilfe Frauenheilkd1989 Nov;49(11):977-80.

226.     Vecchietti G. [The neovagina in the Robitansky-Kuster-Hauser syndrome]. Rev Med Suisse Romande1979 Sep;99(9):593-601.

227.     Davydov AS. [Disturbance of the secretory function of the gastrointestinal tract in sheep monieziasis]. Veterinariia1969 Feb;46(2):47-8.

228.     Dargent D, Marchiole P, Giannesi A, Benchaib M, Chevret-Measson M, Mathevet P. [Laparoscopic Davydov or laparoscopic transposition of the peritoneal colpopoeisis described by Davydov for the treatment of congenital vaginal agenesis: the technique and its evolution]. Gynecol Obstet Fertil2004 Dec;32(12):1023-30.

229.     Giannesi A, Marchiole P, Benchaib M, Chevret-Measson M, Mathevet P, Dargent D. Sexuality after laparoscopic Davydov in patients affected by congenital complete vaginal agenesis associated with uterine agenesis or hypoplasia. Hum Reprod2005 Oct;20(10):2954-7.

230.     Adamiak A, Monist M, Bartuzi A, Miotla P, Rechberger T. [Anatomical and functional effect of laparoscopic Vecchietti operation]. Ginekol Pol2009 Feb;80(2):107-10.

231.     Fedele L, Bianchi S, Frontino G, Fontana E, Restelli E, Bruni V. The laparoscopic Vecchietti's modified technique in Rokitansky syndrome: anatomic, functional, and sexual long-term results. Am J Obstet Gynecol2008 Apr;198(4):377 e1-6.

232.     Roberts CP, Haber MJ, Rock JA. Vaginal creation for mullerian agenesis. Am J Obstet Gynecol2001 Dec;185(6):1349-52; discussion 52-3.

233.     Williams JK, Lake M, Ingram JM. The bicycle seat stool in the treatment of vaginal agenesis and stenosis. J Obstet Gynecol Neonatal Nurs1985 Mar-Apr;14(2):147-50.

234.     ACOG. Committee Opinion No. 244: Nonsurgical diagnosis and management of vaginal agenesis. July 2002. Committee on Adolescent Health Care. American College of Obstetrics and Gynecology. Int J Gynaecol Obstet2002 Nov;79(2):167-70.

235.     ACOG. Committee Opinion No. 355: Vaginal agenesis: diagnosis, management, and routine care. Obstet Gynecol2006 Dec;108(6):1605-9.

236.     Brinkmann AO. Molecular basis of androgen insensitivity. Mol Cell Endocrinol2001 Jun 20;179(1-2):105-9.

237.     Quigley CA, De Bellis A, Marschke KB, el-Awady MK, Wilson EM, French FS. Androgen receptor defects: historical, clinical, and molecular perspectives. Endocr Rev1995 Jun;16(3):271-321.

238.     Gottlieb B, Beitel LK, Trifiro MA. Variable expressivity and mutation databases: The androgen receptor gene mutations database. Hum Mutat2001 May;17(5):382-8.

239.     Tsukada T, Inoue M, Tachibana S, Nakai Y, Takebe H. An androgen receptor mutation causing androgen resistance in undervirilized male syndrome. J Clin Endocrinol Metab1994 Oct;79(4):1202-7.

240.     Lobaccaro JM, Lumbroso S, Belon C, Galtier-Dereure F, Bringer J, Lesimple T, Namer M, Cutuli BF, Pujol H, Sultan C. Androgen receptor gene mutation in male breast cancer. Hum Mol Genet1993 Nov;2(11):1799-802.

241.     Knoke I, Jakubiczka S, Lehnert H, Wieacker P. A new point mutation of the androgen receptor gene in a patient with partial androgen resistance and severe oligozoospermia. Andrologia1999 Jul;31(4):199-201.

242.     Evans BA, Hughes IA, Bevan CL, Patterson MN, Gregory JW. Phenotypic diversity in siblings with partial androgen insensitivity syndrome. Arch Dis Child1997 Jun;76(6):529-31.

243.     Holterhus PM, Bruggenwirth HT, Hiort O, Kleinkauf-Houcken A, Kruse K, Sinnecker GH, Brinkmann AO. Mosaicism due to a somatic mutation of the androgen receptor gene determines phenotype in androgen insensitivity syndrome. J Clin Endocrinol Metab1997 Nov;82(11):3584-9.

244.     Tincello DG, Saunders PT, Hodgins MB, Simpson NB, Edwards CR, Hargreaves TB, Wu FC. 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 Apr;46(4):497-506.

245.     Weidemann W, Peters B, Romalo G, Spindler KD, Schweikert HU. 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 Metab1998 Apr;83(4):1173-6.

246.     Lee PA, Houk CP, Ahmed SF, Hughes IA. Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. Pediatrics2006 Aug;118(2):e488-500.

247.     DSD Guidelines. DSD Support Group links. [Website] 2009 [Sept. 2, 2009]; Available from: http://www.dsdguidelines.org/htdocs/parents/support_groups.html.