Ovarian differentiation and gonadal failure

American Journal of Medical Genetics - Seminars in Medical Genetics

Volumn 89, Issue 4, 1999, Pages 186-200

  Simpson, Joe Leigh ^a   Rajkovic, Aleksandar ^b  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b NONE

Author keywords

Autosomal genes; Mouse models; Ovarian failure; X chromosomes

Indexed keywords

ATAXIA TELANGIECTASIA; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; BLOOM SYNDROME; CHROMOSOME MOSAICISM; DROSOPHILA MELANOGASTER; FEMALE; GENE DELETION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE TRANSLOCATION; GONADAL DYSGENESIS; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPOTHESIS; ISOCHROMOSOME; KARYOTYPE; MALE STERILITY; MONOSOMY X; OVARY DEVELOPMENT; OVARY FUNCTION; PHENOTYPE; PRIMARY AMENORRHEA; PRIORITY JOURNAL; REVIEW; TELOMERE; TRISOMY 13; X CHROMOSOME ABERRATION;

ANIMALS; CELL DIFFERENTIATION; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; DISEASE MODELS, ANIMAL; DNA-BINDING PROTEINS; FEMALE; FOLLICLE STIMULATING HORMONE; GENETIC DISEASES, INBORN; HUMANS; MICE; MOSAICISM; MUTATION; OVARIAN FAILURE, PREMATURE; PHYSICAL CHROMOSOME MAPPING; RECEPTORS, FSH; TRANSCRIPTION FACTORS; TURNER SYNDROME; X CHROMOSOME;

ATAXIA; ATAXIA TELANGIECTASIA; DROSOPHILA MELANOGASTER; MAMMALIA; MELANOGASTER; MUS MUSCULUS;

EID: 0033616191     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19991229)89:4<186::AID-AJMG3>3.0.CO;2-5     Document Type: Review

References (136)

1. Achermann JC, Ito M, Hindmarsh PC, Jameson JL. 1999. A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in human [Letter]. Nature Genet 22:125-126.
2. Aittomaki K. 1994. The genetics of XX gonadal dysgenesis. Am J Hum Genet 54:844-851.
3. Aittomaki K, Dieguez Luccena JL, Pakarinen P, Sistonen P, Tapanainen J, Gromoll J, Kaskikari K, Sankila EM, Lehvaslaiho H, Engel AR, Eberhard N, Huhtaniemi I, de la Chapelle A. 1995. Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell 82:959-968.
4. Aittomaki K, Herva K, Stenman UH, Juntunen K, Ylostalo P, Hovatta O, de la Chapelle A. 1996. Clinical features of primary ovarian failure caused by a point mutation in the follicle-stimulating hormone receptor gene. J Clin Endocrinol Metab 81:3722-3726.
5. Al-Awadi SA, Farag WTI, Teebie AS, Naguib K, el-Khalifa MY, Kelani Y, Al-Ansari A, Schimke RN. 1985. Primary hypergonadotropic hypogonadism, short stature and minor anomalies: a new syndrome. Am J Med Genet 22:619-622.
6. Araki S, Chikazawa K, Sekiguchi I, Yamauchi H, Motoyama M, Tamada T. 1987. Arrest of follicular development in a patient with 17 alpha-hydroxylase deficiency: folliculogenesis in association with a lack of estrogen synthesis in the ovaries. Fertil Steril 47:169-172.
7. Assche EV, Bonduella M, Tournaye H, Joris H, Verheyen G, Devroey P, Van Steirteghem A, Liebaers I. 1996. Cytogenetics of infertile men. In: Steirteghem AV, Devroey P, Liebaers I, editors. Genetics and assisted human conception. Hum Reprod 11:1-24.
8. Baker J, Hardy MP, Zhou J, Bondy C, Lupu F, Bellve AR, Efstratiadis A. 1996. Effects of an Igfl gene null mutation on mouse reproduction. Mol Endocrinol 10:903-918.
9. Bailey WA, Zwingman TA, Reznik VM, Griswold WR, Mendoza SA, Jones KL, Friedenberg GR. 1992. End-stage renal disease and primary hypogonadism associated with a 46,XX karyotype. Am J Dis Child 146:1218-1223.
10. Bardoni B, Zanaria E, Guioli S, Floridia G, Worley KC, Tonini G, Ferrante E, Chiumello G, McCabe ER, Fraccaro M, Zuffardi O, Camerino G. 1994. A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nature Genet 7:497-501.
11. Barlow C, Hirotsune S, Paylor R, Liyanage M, Eckhaus M, Collins F, Shiloh Y, Crawley JN, Ried T, Tagle D, Wynshaw-Boris A. 1996. Atm-deficient mice: a paradigm of ataxia telangiectasia. Cell 86:159-171.
12. Bione S, Sala C, Manzini C, Arrigo G, Zuffardi O, Banfi S, Borsani G, Jonveaux P, Philippe C, Zuccotti M, Ballabio A, Toniolo D. 1998. A human homologue of the drosophiha melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence lor conserved function in oogenesis and implications tor human sterility. Am J Hum Genet 62:533-541.
13. Boczkowski K. 1970. Pure gonadal dysgenesis and ovarian dysplasia in sisters. Am J Obstet Gynecol 106:626-628.
14. Castrillon DH, Wasserman SA. 1994. Diaphanous is required for cytokinesis in Drosophila and shares domains of similarity with the products of the limb deformity gene. Development 120:3367-3377.
15. Christakos AC, Simpson JL, Younger JB, Christian CB. 1969. Gonadal dysgenesis as an autosomal recessive condition. Am J Obstet Gynecol 104:1027-1030.
16. Chrzanowska KH, Kleijer WJ, Krajewska-Walasek M, Bialecka M, Gutkowska A, Goryluk-Kozakiewicz B, Michalkiewicz J, Stachowski J, Gregorek H, Lyson-Wojciechowska G, Janowicz W, Jozwiak S. 1995. Eleven Polish patients with microcephaly, immunodeficiency, and chromosomal instability: the Nijmegen breakage syndrome. Am J Med Genet 57:462-471.
17. Conley ME, Spinner NB, Emanuel BS, Nowell PC, Nichols WW. 1986. A chromosomal breakage syndrome with profound immunodeficiency. Blood 67:1251-1256.
18. 4 substitution upon postnatal development of germ cells. J Exp Zool 126:277-296.
19. Cunniff C, Jones KL, Benirschke K. 1991. Ovarian dysgenesis in individuals with chromosomal abnormalities. Hum Genet 86:552-556.
20. Cussen LK, McMahon R. 1979. Germ cells and ova in dysgenetic gonads of a 46,XY female dizygote twin. Arch Dis Child 133:373-375.
21. Davison RM, Quilter CR, Webb J, Murray A, Fisher AM, Valentine A, Serhal P, Conway GS. 1988. A familial case of X chromosome deletion ascertained by cytogenetic screening of women with premature ovarian failure. Hum Reprod 13:3039-3041.
22. de Grouchy J, Gompel A, Salomon-Bernard Y, Juttenn F, Yaneva H, Paniel JB, Le Merrer M, Roubin M, Doussau de Bazignan M, Turleau C. 1985. Embryonic testicular regression syndrome and severe mental retardation in sibs. Ann Genet 28:154-160.
23. Dierich A, Sairam MR, Monaco L, Fimia GM, Gansmuller A, LeMeur M, Sassone-Corsi P. 1998. Impairing follicle-stimulating hormone (FSH) signaling in vivo: targeted disruption of the FSH receptor leads to aberrant gametogenesis and hormonal imbalance. Proc Natl Acad Sci U S A 95:13612-13617.
24. Dinchuk JE, Car BD, Focht RJ, Johnston JJ, Jaffee BD, Covington MB, Contel NR, Eng VM, Collins RJ, Czerniak PM, Gorry SA, Trzaskos JM. 1995. Renal abnormalities and an altered inflammatory response in mice lacking cyclooxygenase II. Nature 378:406-409.
25. Dong J, Albertini DF, Nishimori K, Kumar TR, Lu N, Matzuk MM. 1996. Growth differentiation factor-9 is required during early ovarian folliculogenesis [Comments]. Nature 383:531-535.
26. Duck SG, Sekkan GS, Wilbois R, Pagliara AS, Weldon VV. 1975. Pseudohermaphroditism with testes and 46,XX karyotypes. J Pediatr 87:58-62.
27. Edelmann W, Cohen PE, Kane M, Lau K, Morrow B, Bennett S, Umar A, Kunkel T, Gattoretti G, Chaganti R, Pollard JW, Kolodner RD, Kucherlapati R. 1996. Meiotic pachytene arrest in MLH1-deficient mice. Cell 85:1125-1134.
28. Edelmann W, Cohen PE, Kneitz B, Winand N, Lia M, Heyer J, Kolodner R, Pollard JW, Kucherlapati R. 1999. Mammalian MutS homologue 5 is required for chromosome pairing in meiosis. Nature Genet 21:123-127.
29. Evans EP, Ford CE, Lyon MF. 1977. Direct evidence of the capacity of the XY germ cell in the mouse to become an oocyte. Nature 267:430-431.
30. Fitch N, de Saint VJ, Richer GL, Pinsky L, Sitahal S. 1982. Premature menopause due to small deletion in long arm of the X chromosome: a report of three cases and a review. Am J Obstet Gynecol 142:968-972.
31. Fraccaro M, Maraschio P, Pasquali F, Scappaticci S. 1977. Women heterozygous for deficiency of the (Xpter X21) region of the X chromosome are fertile. Hum Genet 39: 283-292.
32. German J. 1969. Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients. Am J Hum Genet 21:196-227.
33. German J. 1993. Bloom syndrome: a mendelian prototype of somatic mutational disease. Medicine (Baltimore) 72:393-406.
34. German J, Bloom D, Passarge E. 1984. Bloom's syndrome. XI. Progress report for 1983. Clin Genet 25:166-174.
35. Goto M, Tanimoto K, Horiuchi Y, Sasazuki T. 1981. Family analysis of Werner's syndrome: a survey of 42 Japanese families with a review of the literature. Clin Genet 9:8-15.
36. Granat M, Amar A, Mor-Yosef S, Brautbar C, Schenker JG. 1983. Familial gonadal germinative failure: endocrine and human leukocyte antigen studies. Fertil Steril 40:15-219.
37. Greenberg F, Greesick MV, Carpenter RJ, Law SW, Hoffman LP, Ledbetter DH. 1987. The Gardner-Silengo-Wachtel syndrome: male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal cardiac defect. Am J Hum Genet 26:59-64.
38. Hall JG, Pallister PD, Clarren SK, Beckwith JB, Wiglesworth FW, Fraser FG, Cho S, Benke PJ, Reed SD. 1980. Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly: a new syndrome? I. Clinical, causal, and pathogenetic considerations. Am J Med Genet 7:47-74.
39. Hamet P, Kuchel O, Nowacynski JM, Rojo Ortega JM, Sasaki C, Genest J. 1973. Hypertension with adrenal, genital, renal defects, and deafness. Arch Intern Med 131:563-569.
40. Handel MA, Eppig JJ. 1979. Sertoli cell differentiation in the testes of mice genetically deficient in germ cells. Biol Reprod 20:1031-1038.
41. Harbord MG, Baraitser M, Wilson J. 1989. Microcephaly, mental retardation, cataracts, and hypogonadism in sibs: Martsolfs syndrome. J Med Genet 26:397-400.
42. Harrar HS, Jeffrey S, Patton MA. 1995. Linkage analysis in blepharophimosis-ptosis syndrome confirms localisation to 3q21-24. J Med Genet 32:774-777.
43. Hennekam RC, van de Meeberg AG, van Doorne JM, Dijkstra PF, Bijlsma JB. 1988. Martsolf syndrome in a brother and sister: clinical features and pattern of inheritance. Eur J Pediatr 47:539-543.
44. Herva RB, Kaluzewski B, de la Chapelle A. 1979. Inherited interstitial del(Xp) with minimal clinical consequences: with a note on the location of genes controlling phenotypic features. Am J Med Genet 3:43-58.
45. Ito Y, Fisher CR, Come FA, Grumbach MM, Simpson ER. 1993. Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries. Proc Natl Acad Sci U S A 90:11673-11677.
46. James RS, Coppin B, Dalton P, Dennis NR, Mitchell C, Sharp AJ, Skuse DH, Thomas NS, Jacobs PA. 1998. A study of females with deletions of the short arm of the X chromosome. Hum Genet 102:507-516.
47. James RS, Dalton P, Gustashaw K, Wolff DJ, Willard HF, Mitchell C, Jacobs PA. 1997. Molecular characterization of isochromosomes of Xq. Ann Hum Genet 61:485-490.
48. Jirȧsek J. 1976. Principles of reproductive embryology. In: Simpson JL, editor. Disorders of sexual differentiation. New York: Academic Press. p 51-111.
49. Jones MH, Furlong RA, Burkin H, Chalmers IJ, Brown GM, Khwaja O, Affara NA. 1996. The Drosophila developmental gene fat facets has a human homologue in Xp11.4 which escapes X-inactivation and has related sequences on Yp11.2. Hum Mol Genet 5:1695-1701.
50. Kennerknecht I, Sorgo W, Oberhoffer R, Teller WM, Mattfeldt T, Negri G, Vogel W. 1993. Familial occurrence of agonadism and multiple internal malformations in phenotypically normal girls with 46,XY and 46,XX karyotypes, respectively: a new autosomal recessive syndrome. Am J Med Genet 47:1166-1170.
51. Krauss CM, Turkray RN, Atkins L, McLaughlin C, Brown KG, Page DC. 1987. Familial premature ovarian failure due to interstitial deletion of the long arm of the X chromosome. N Engl J Med 317:125-131.
52. Kristiansson B, Stibler H, Wide L. 1995. Gonadal function and glycoprotein hormones in the carbohydrate-deficient glycoprotein (CDG) syndrome. Acta Paediatr 84:655-659.
53. Kumar TR, Wang Y, Lu N, Matzuk MM. 1997. Follicle stimulating hormone is required for ovarian follicle maturation hut not male fertility. Nature Genet 15:201-204.
54. Latronico AC, Anasti J, Arnhold IJ, Rapaport R, Mendonca BB, Bloise W, Castro M, Tsigos C, Chrousos GP. 1996. Brief report: testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene. N Engl J Med 334:507-512.
55. Layman LC, Amede S, Cohen DP, Jin M, Xie J. 1998. The Finnish follicle-stimulating hormone receptor gene mutation is rare in North American women with 46,XX ovarian failure. Fertil Steril 69:300-302.
56. Layman LG, Lee EJ, Peak DB, Namnoum AB, Vu KV, van Lingen BL, Gray MR, McDonough PG, Reindollar RH, Jameson JL. 1997 Delayed puberty and hypogonadism caused by mutations in the follicle-stimulating hormone beta-subunit gene. N Engl J Med 337:607-611.
57. Levinson G, Zarate A, Guzman-Toledano R, Canales ES, Jimenez M. 1976. An XX female with sexual infantilism, absent gonads, and lack of Müllerian ducts. J Med Genet 13:68-69.
58. Liang L, Soyal SM, Dean J. 1997. FIG, alpha, a germ cell specific transcription factor involved in the coordinate expression of the zona pellucida genes. Development 124: 4939-4947.
59. Lorda-Sanchez I, Binkert F, Maechler M, Shinzel A. 1992. Molecular study of 45,X conceptuses: correlation with clinical findings. Am J Med Genet 42:487-490.
60. Loughlin SAR, Redha A, McIver J, Boyd A, Carothers A, Connor JM. 1991. Analysis of the origin of Turner's syndrome using polymorphic DNA probes. J Med Genet 28: 156-158.
61. Lubahn DB, Moyer JS, Golding TS, Couse JF, Korach KS, Smithies O. 1993. Alteration of reproductive function but not prenatal sexual development after insertional disruption of the mouse estrogen receptor gene. Proc Natl Acad Sci U S A 90:11162-11166.
62. Luo X, Ikeda Y, Parker KL. 1994. A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation. Cell 77:481-490.
63. Luoh SW, Bain PA, Polakiewicz RD, Goodheart ML, Gardner H, Jaenisch R, Page DC. 1997. Zfx mutation results in small animal size and reduced germ cell number in male and female mice. Development 124:2275-2284.
64. Manová K, Bachvarová RF. 1991. Expression of c-kit encoded at the W locus of mice in developing embryonic germ cells and presumptive melanoblasts. Dev Biol 146:312-324.
65. Marozzi A, Furlan D, Manfredini E, Tibiletti MG, Vegetti W, Testa G, Dalpra L. 1998. Diaphanous gene disruption in a woman with Xq deletion and secondary hypergonadotropic amenorrhea. Am J Hum Genet 64:A114 (Abstract 812).
66. Martsolf JT, Hunter AG, Haworth JC. 1978. Severe mental retardation, cataracts, short stature, and primary hypogonadism in two brothers. Am J Med Genet 1:291-299.
67. Massa G, Vanderschueren-Lodeweyckx M, Fryns JP. 1992. Deletion of the short arm of the X chromosome: a hereditary form of Turner syndrome. Eur J Pediatr 151:893-894.
68. Mathur A, Stekol L, Schatz D, MacLaren NK, Scott ML, Lippe B. 1991. The parental origin of the single X chromosome in Turner syndrome: lack of correlation with prenatal age or clinical phenotype. Am J Hum Genet 48:682.
69. Matsui Y, Zsebo KM, Hogan BL. 1990. Embryonic expression of a haematopoietic growth factor encoded by the Sl locus and the ligand for c-kit. Nature 347:667-669.
70. Matthews CH, Borgato S, Beck-Peccoz P, Adams M, Tone Y, Gambino G, Casagrande S, Tedeschini G, Benedetti A, Chatterjee VK. 1993. Primary amenorrhoea and infertility due to a mutation in the beta-subunit of follicle-stimulating hormone. Nature Genet 5:83-86.
71. Matthijs G, Schollen E, Pardon E, Veiga-Da-Cunha M, Jacken J, Cassiman JJ, Van Schaftingen E. 1997. Mutations in PMMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome. Nature Genet 16:88-92.
72. Maximilian G, Ionescu B, Bucur A. 1970. Deux soeurs avec dysgénésie gonadique majeure, hypotrophic staturale, microcéphalie, arachnondactylie et caryotype 46,XX. J Genet Hum 10:261-280.
73. McCarthy DJ, Opitz JM. 1985. Perrault syndrome in sisters. Am J Med Genet 22:629-631.
74. Mendonca BB, Barbosa AS, Arnhold IJ, McElreavey K, Fellous M, Moreira-Filho CA. 1994. Gonadal agenesis in XX and XY sisters: evidence for the involvement of an autosomal gene. Am J Med Genet 52:39-43.
75. Meyers CM, Boughman JA, Rivas M, Wilroy RS, Simpson JL. 1996. Gonadal dysgenesis in 46,XX individuals: frequency of the autosomal recessive form. Am J Med Genet 63:518-524.
76. Migeon BR, Jelalian K. 1977. Evidence for two active X chromosomes in germ cells of females before meiotic entry. Nature 269: 242-243.
77. Mikati MA, Samir SN, Sahil IF. 1985. Microcephaly, hypergonadotropic hypogonadism, short stature and minor anomalies: a new syndrome. Am J Med Genet 22:599-608.
78. Mintz B, Russell E. 1957. Gene induced embryological modifications of primordial germ cells in the mouse. J Exp Zool 134:207-237.
79. Mullis PE, Yoshimura N, Kuhlmann B, Lippuner K, Jaeger P, Harada HJ. 1997. Aromatase deficiency in a female who is compound heterozygote for two new point mutations in the P450 arom gene: impact of estrogens on hypergonadotropic hypogonadism, multicystic ovaries, and bone densitometry in childhood. J Clin Endocrinol Metab 82: 1739-1745.
80. Naguib KK, Sundareshan TS, Bahar AM, Al-Awadi SA, Jeryan LA, Hamdan MR. 1988. Fertility with deletion Xq25: report of three cases; possible exceptions for critical region hypothesis. Fertil Steril 49:917-919.
81. Nance MA, Kerry SA. 1992. Cockayne syndrome: review of 140 cases. Am J Med Genet 42:68-84.
82. Nishi Y, Hamamoto K, Kajiyama M, Kawamura I. 1988. The Perrault syndrome: clinical report and review. Am J Med Genet 31:623-629.
83. Ogata T, Matsuo N. 1995. Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features. Hum Genet 95:607-629.
84. Ohno S. 1967. Sex chromosomes and sex-linked genes. Berlin: Springer-Verlag.
85. Pallister PD, Opitz JM. 1979. The Perrault syndrome: autosomal recessive ovarian dysgenesis with facultative, non sex-limited sensorineural deafness. Am J Med Genet 22: 629-631.
86. Panidis D, Rousso D, Vavilis D, Skiadopoulos S, Kalogeropoulos A. 1994. Familial blepharophimosis with ovarian failure. Hum Reprod 9:2034-2037.
87. Pellas TC, Ramachandran B, Duncan M, Pan SS, Marone M, Chada K. 1991. Germ-cell deficient (gcd), an insertional mutation manifested as infertility in transgenic mice. Proc Natl Acad Sci U S A 88:8787-8791.
88. Perez GI, Robles R, Knudson CM, Flaws JA, Korsmeyer SJ, Lilly JL. 1999. Prolongation of ovarian lifespan into advanced chronological age by Bax-deficiency. Nature Genet 21:200-203.
89. Pober BK, Zemel S, Hisama FM. 1998. 45,XX gonadal dysgenesis, short stature and recurrent metabolic acidosis in two sisters. Forty-eighth Am J Hum Genet 63:652, A117.
90. Portuondo JA, Neyro JL, Benito JA, de la Rios A, Barral A. 1987. Familial 46,XX gonadal dysgenesis. Int J Fertil 32:56-58.
91. Quayle SA, Copeland KC. 1991. 46,XX gonadal dysgenesis with epibulbar dermoid. Am J Med Genet 40:75-76.
92. Rabinovici J, Blankstein J, Goldman B, Rudak E, Dor Y, Pariente C, Geier A, Lunenfeld B, Mashiach S. 1989. In vitro fertilization and primary embryonic cleavage are possible in 17α-hydroxylase deficiency despite extremely low intrafollicular 17α-estradiol. J Clin Endocrinol Metab 68:693-697.
93. Rankin T, Familari M, Lee E, Ginsberg A, Dwyer N, Blanchette-Mackie J, Drago J, Westphal H, Dean J. 1996. Mice homozygous tor an insertional mutation in the Zp3 gene lack a zona pellucida and are infertile. Development 122:2903-2910.
94. Ratts VS, Flaws JA, Kolp R, Sorenson CM, Tilly JL. 1995. Ablation of bcl-2 gene expression decreases the numbers of oocytes and primordial follicles established in the post-natal Female mouse gonad. Endocrinology 136: 3665-3668.
95. Sala C, Arrigo G, Torri G, Martinazzi F, Riva P, Larizza L, Philippe C, Jonveaux P, Sloan F, Labella T, Toniolo D. 1997. Eleven X chromosome breakpoints associated with premature ovarian failure (POF) map to a 15-Mb YAC contig spanning Xq21. Genomics 40:123-131.
96. Sargent CA, Briggs J, Chalmers IJ, Lambson B, Walker E, Affara NA. 1996. The sequence organization of Yp/proximal Xq homologous regions of the human sex chromosomes is highly conserved. Genomics 32: 200-209.
97. Sarto GE, Opitz JM. 1973. The XY gonadal agenesis syndrome. J Med Genet 10:288-293.
98. Schwartz C, Fitch N, Phelan MC, Richer CL, Stevenson R. 1987. Two sisters with a distal deletion at the Xq26/Xq27 interface: DNA studies indicate that the gene locus for factor IX is present. Hum Genet 76:54-57.
99. Shozu M, Akasofu K, Harada T, Kubota Y. 1991. A new cause of female pseudohermaphroditism: placental aromatase deficiency. J Clin Endocrinol Metab 72:560-566.
100. Simon AM, Goodenough DA, Li E, Paul DL. 1997. Female infertility in mice lacking connexin 37. Nature 385:525-529.
101. Simpson ER, Michael MD, Agarwal VR, Hinshelwood MM, Bulun SE, Zhao Y. 1997. Cytochrome P450 11: expression of the CYP19 (aromatase) gene. An unusual case of alternative promoter usage. FASEB J 11: 29-36.
102. Simpson JL. 1975. Gonadal dysgenesis and abnormalities of the human sex chromosomes: current status of the phenotypic-karyotypic correlations. Birth Defects 11(4):23-59.
103. Simpson JL. 1970. Disorders of sexual differentiation: etiology and clinical delineation. New York: Academic Press. 466 p.
104. Simpson JL. 1979. Gonadal dysgenesis and sex chromosome abnormalities: phenotypic/ karyotypic correlations. In: Vallet HL, Porter IH, editors. Genetic mechanisms of sexual development. New York: Academic Press, p 365-405.
105. Simpson JL. 1987a. Genetic control of sexual development. In: Teoh ES, Ratnam SS, Goh VHH, editors. Advances in fertility and sterility: releasing hormones and genetics and immunology in human reproduction. Lancaster, England: Parthenon Press. p 165-173.
106. Simpson JL. 1987b. Phenotypic-karyotypic correlations of gonadal determinants: current status and relationship to molecular studies. In: Sperling K, Vogel F, editors. Human genetics. (Proceedings of the Seventh International Congress, Berlin, 1986) Heidelberg, Berlin: Springer-Verlag. p 224-232.
107. Simpson JL. 1997a. Ovarian maintenance determinants on the X chromosome and on autosomes. In: Coutifaris C, Mastroianni L, editors. New horizons in reproductive medicine. (Proceedings of the Ninth World Congress on Human Reproduction, Philadelphia, 1996) New York: Parthenon. p 439-444.
108. Simpson JL. 1997b. Genetics of oocyte depletion. In: Lobo RA, editor. Perimenopause. Norwell, Mass.: Springer, and New York: Serono Symposia USA. p 36-45.
109. Simpson JL. 1998. Genetics of female infertility. In: Filicori M, Flamigni C, editors. Proceedings of the conference, treatment of infertility: the new frontiers. Boca Raton, Fla.: Communications Media for Education, Inc. p 37-52.
110. Simpson JL. 2000. Genetic programming in ovarian development and oogenesis. In: Lobo RA, Marcus R, Kelsey J, editors. Menopause, San Diego, Academic Press.
111. Simpson JL, Christakos AC, Horwith M, Silverman F. 1971. Gonadal dysgenesis associated with apparently chromosomal complements. Birth Defects Orig Artic Ser 7(6): 215-228.
112. Simpson JL, LeBau MM. 1981. Gonadal and statural determinants on the X chromosome and their relationship to in vitro studies showing prolonged cell cycles in 45,X,46,X, del(X)(p11); 46,X,del(X)(q13) and q(22) fibroblasts. Am J Obstet Gynecol 141:930-939.
113. Skre H, Bassoe HH, Berg K, Frovig AG. 1976. Cerebella ataxia and hypergonadotropic hypogonadism in two kindreds: chance concurrence, pleiotropism or linkage? Clin Genet 9:234-244.
114. Smith A, Fraser IS, Noel M. 1979. Three siblings with premature gonadal failure. Fertil Steril 32:528-530.
115. Soyal S, Rankin T, Dean J. 1999. International Workshop on Early Folliculogenesis and Oocytes Development: basic and clinical aspects. London: Abstract Presentation.
116. Speed RM. 1986. Oocyte development in XO foetuses of man and mouse: the possible role of heterologous X-chromosome pairing in germ cell survival. Chromosoma 94:115-124.
117. Speed RM. 1988. The possible role of meiotic pairing anomalies in the atresia of human fetal oocytes. Hum Genet 78:260-266.
118. Starr DG, McClure JP, Connor JM. 1985. Non-dermatological complications and genetic aspects of the Rothmund-Thomson syndrome. Clin Genet 27:102-104.
119. Sugarman GI, Landing BH, Reed WB. 1977. Cockayne syndrome: clinical study of two patients and neuropathologic findings in one. Clin Pediatr (Phila) 16:225-232.
120. Sultan LH, Lumbroso S. 1998. LH receptor defects. In: Kempers RD, Cohen J, Haney AF, Younger JB, editors. Fertility and reproductive medicine. Proceedings of the Sixteenth World Congress on Fertility and Sterility. Amsterdam: Elsevier Science. p 769-797.
121. Susca F, Apa R, Vicino M, Loverro G, Guanti G, 1999. Xq deletion and premature ovarian failure. Hum Reprod 14(abstract):236.
122. Swain A, Narvaez V, Burgoyne P, Camerino G, Lovell-Badge R. 1998. Dax1 antagonizes Sry action in mammalian sex determination. Nature 391:761-767.
123. Tapanainen JS, Aittomaki K, Min J, Vaskivuo T, Huhtaniemi IT. 1997. Men homozygous for an inactivating mutation of the follicle-stimulating hormone (FSH) receptor gene present variable suppression of spermatogenesis and fertility. Nature Genet 15:205-206.
124. Tharapel AT, Anderson KP, Simpson JL, Martens PR, Wilroy RS, Llerena JC, Schwartz CE. 1993. Deletion (X) (q26 1q28) in a proband and her mother: molecular characterisation and phenotypic-karyotypic deductions. Am J Hum Genet 52:463-471.
125. Toledo SP, Brunner HG, Kraaij R, Post M, Dahia PL, Hayashida CY, Kremer H, Themmen AP. 1996. An inactivating mutation of the luteinizing hormone receptor causes amenorrhea in a 46,XX female. J Clin Endocrinol Metab 81:3850-3854.
126. Topilko P, Schneider-Maunoury S, Levi G, Trembleau A, Gourdji D, Driancourt MA, Rao CV, Charnay P. 1998. Multiple pituitary and ovarian defects in Krox-24 (NGFI-A, Egr-1)-targeted mice. Mol Endocrinol 12:107-122.
127. Van de Velde-Staquet E, Breynaert R, Walbaum R, Saint-Aubert P, Farriaux JP, Fontaine G. 1973. La déscendance des meres trisomiques 21. J Genet Hum 21:87-206.
128. Veneman TF, Beverstock GC, Exalto N, Mollevanger P. 1991. Premature menopause because of an inherited deletion in the long arm of the X-chromosome. Fertil Steril 55: 631-633.
129. Waldmann TA, Misiti J, Nelson DL, Kraemer KH. 1983. Ataxia-telangiectasis: a multisystem hereditary disease with immunodeficiency, impaired organ maturation, x-ray hypersensitivity, and a high incidence of neoplasia [Clinical Conference]. Ann Intern Med 99:367-379.
130. Weemaes CM, Hustinx TW, Scheres JM, van Minister PJ, Bakkeren JA, Taalman RD. 1981. A new chromosomal instability disorder: the Nijmegen breakage syndrome. Acta Paediatr Scand 70:557-564.
131. Wilson MG, Modebe O, Towner JW, Frasier SD. Lin MS. 1983. Ullrich-Turner syndrome associated with interstitial deletion of Xp11 4 leads to p22 31. Am J Med Genet 14:567-576.
132. Yu RN, Ito M, Saunders TL, Camper SA, Jameson JL. 1998. Role of Ahch in gonadal development and gametogenesis [Comments]. Nature Genet 20:353-357.
133. Zadik Z, Levin S, Prager-Lewin R, Laron Z. 1978. Gonadal dysfunction in patients with ataxia telangiectasia. Acta Paediatr Scand 67:477-479.
134. Zinn AR, Ouyang B, Ross JL, Varma S, Bourgeois M, Tonk V. 1997. Del (X)(p21.2) in a mother and two daughters with variable ovarian function. Clin Genet 52:235-239.
135. Zinn AR, Tonk VS, Chen Z, Flejter WL, Gardner HA, Guerra R, Kushner H, Schwartz S, Sybert VP, Van Dyke DL, Ross JL. 1998. Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1. Am J Hum Genet 63:1757-1766.
136. Zlotogora J, Sagi M, Cohen T. 1983. The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types. Am J Hum Genet 35:1020-1027.