Hypogonadotropic hypogonadism in subjects with DAX1 mutations

Molecular and Cellular Endocrinology

Volumn 346, Issue 1-2, 2011, Pages 65-73

  Jadhav, Unmesh ^a   Harris, Rebecca M ^a   Jameson, J Larry ^a  

^a NORTHWESTERN UNIVERSITY   (United States)

Author keywords

Adrenal hypoplasia congenita; DAX1; Hypogonadotropic hypogonadism

Indexed keywords

FOLLITROPIN; GONADORELIN; GONADOTROPIN; LUTEINIZING HORMONE; NUCLEAR RECEPTOR DAX 1; STEROIDOGENIC FACTOR 1; TESTOSTERONE;

ADRENAL GLAND; ADRENAL GLAND MALFORMATION; ADRENAL HYPOLASIA CONGENITA; ADRENAL INSUFFICIENCY; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; EMBRYONIC STEM CELL; FOLLITROPIN BLOOD LEVEL; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GONAD; HORMONE DEFICIENCY; HORMONE RELEASE; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; KALLMANN SYNDROME; LUTEINIZING HORMONE BLOOD LEVEL; MOLECULAR PATHOLOGY; NONHUMAN; PHENOTYPE; PHENOTYPIC VARIATION; PLURIPOTENT STEM CELL; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN PROTEIN INTERACTION; REVIEW; SPERMATOGENESIS; TESTIS DEVELOPMENT; TESTIS FUNCTION; TESTOSTERONE BLOOD LEVEL; TRANSCRIPTION REGULATION; X CHROMOSOME; X CHROMOSOME LINKED DISORDER; ZONA INCERTA;

ANIMALS; DAX-1 ORPHAN NUCLEAR RECEPTOR; GONADOTROPIN-RELEASING HORMONE; HUMANS; HYPOGONADISM; MUTATION;

EID: 80053385226     PISSN: 03037207     EISSN: 18728057     Source Type: Journal    
DOI: 10.1016/j.mce.2011.04.017     Document Type: Review

References (127)

1. Abe S., Nakae J., Yasoshima K., Tajima T., Shinohara N., Murashita M., Satoh K., Koike A., Takahashi Y., Fujieda K. Novel missense mutation (Leu466Arg) of the DAX1 gene in a patient with X-linked congenital adrenal hypoplasia. Am. J. Med. Genet. 1999, 84:87-89.
2. Achermann J.C., Silverman B.L., Habiby R.L., Jameson J.L. Presymptomatic diagnosis of X-linked adrenal hypoplasia congenita by analysis of DAX1. J. Pediatr. 2000, 137:878-881.
3. Achermann J.C., Meeks J.J., Jameson J.L. Phenotypic spectrum of mutations in DAX-1 and SF-1. Mol. Cell Endocrinol. 2001, 185:17-25.
4. Agoulnik I.U., Krause W.C., Bingman W.E., Rahman H.T., Amrikachi M., Ayala G.E., Weigel N.L. Repressors of androgen and progesterone receptor action. J. Biol. Chem. 2003, 278:31136-31148.
5. Ahmad I., Paterson W.F., Lin L., Adlard P., Duncan P., Tolmie J., Achermann J.C., Donaldson M.D. A novel missense mutation in DAX-1 with an unusual presentation of X-linked adrenal hypoplasia congenita. Horm. Res. 2007, 68:32-37.
6. Altincicek B., Tenbaum S.P., Dressel U., Thormeyer D., Renkawitz R., Baniahmad A. Interaction of the corepressor Alien with DAX-1 is abrogated by mutations of DAX-1 involved in adrenal hypoplasia congenita. J. Biol. Chem. 2000, 275:7662-7667.
7. Argente J., Ozisik G., Pozo J., Teresa Munoz M., Soriano-Guillen L., Larry Jameson J. A novel single base deletion at codon 434 (1301delT) of the DAX1 gene associated with prepubertal testis enlargement. Mol. Genet. Metab. 2003, 78:79-81.
8. Bae D.S., Schaefer M.L., Partan B.W., Muglia L. Characterization of the mouse DAX-1 gene reveals evolutionary conservation of a unique amino-terminal motif and widespread expression in mouse tissue. Endocrinology 1996, 137:3921-3927.
9. Balsamo A., Antelli A., Baldazzi L., Baronio F., Lazareva D., Cassio A., Cicognani A. A new DAX1 gene mutation associated with congenital adrenal hypoplasia and hypogonadotropic hypogonadism. Am. J. Med. Genet. A. 2005, 135:292-296.
10. Bartley J.A., Patil S., Davenport S., Goldstein D., Pickens J. Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion. J. Pediatr. 1986, 108:189-192.
11. Bassett J.H., O'Halloran D.J., Williams G.R., Beardwell C.G., Shalet S.M., Thakker R.V. Novel DAX1 mutations in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism. Clin. Endocr. (Oxf). 1999, 50:69-75.
12. Battista M.C., Otis M., Cote M., Laforest A., Peter M., Lalli E., Gallo-Payet N. Extracellular matrix and hormones modulate DAX-1 localization in the human fetal adrenal gland. J. Clin. Endocrinol. Metab. 2005, 90:5426-5431.
13. Bernard P., Ludbrook L., Queipo G., Dinulos M.B., Kletter G.B., Zhang Y.H., Phelan J.K., McCabe E.R., Harley V.R., Vilain E. A familial missense mutation in the hinge region of DAX1 associated with late-onset AHC in a prepubertal female. Mol. Genet. Metab. 2006, 88:272-279.
14. Beuschlein F., Keegan C.E., Bavers D.L., Mutch C., Hutz J.E., Shah S., Ulrich-Lai Y.M., Engeland W.C., Jeffs B., Jameson J.L., Hammer G.D. SF-1, DAX-1, and acd: molecular determinants of adrenocortical growth and steroidogenesis. Endocr. Res. 2002, 28:597-607.
15. Bouma G.J., Albrecht K.H., Washburn L.L., Recknagel A.K., Churchill G.A., Eicher E.M. Gonadal sex reversal in mutant Dax1 XY mice. a failure to upregulate Sox9 in pre-Sertoli cells. Development 2005, 132:3045-3054.
16. Bovet P., Reymond M.J., Rey F., Gomez F. Lack of gonadotropic response to pulsatile gonadotropin-releasing hormone in isolated hypogonadotropic hypogonadism associated to congenital adrenal hypoplasia. J. Endocrinol. Invest. 1988, 11:201-204.
17. Brown P., Scobie G.A., Townsend J., Bayne R.A., Seckl J.R., Saunders P.T., Anderson R.A. Identification of a novel missense mutation that is as damaging to DAX-1 repressor function as a nonsense mutation. J. Clin. Endocrinol. Metab. 2003, 88:1341-1349.
18. Burris, T.P., Guo, W. and McCabe, E.R., 1996. The gene responsible for adrenal hypoplasia congenita, DAX-1, encodes a nuclear hormone receptor that defines a new class within the superfamily, Recent Prog. Horm. Res. 51, 241-59; discussion 259-260.
19. Calliari L.E., Longui C.A., Rocha M.N., Faria C.D., Kochi C., Melo M.R., Melo M.B., Monte O. A novel mutation in DAX1 gene causing different phenotypes in three siblings with adrenal hypoplasia congenita. Genet. Mol. Res. 2007, 6:277-283.
20. Caron P., Imbeaud S., Bennet A., Plantavid M., Camerino G., Rochiccioli P. Combined hypothalamic-pituitary-gonadal defect in a hypogonadic man with a novel mutation in the DAX-1 gene. J. Clin. Endocrinol. Metab. 1999, 84:3563-3569.
21. Clipsham R., McCabe E.R. DAX1 and its network partners: exploring complexity in development. Mol. Genet. Metab. 2003, 80:81-120.
22. Clipsham R., Niakan K., McCabe E.R. Nr0b1 and its network partners are expressed early in murine embryos prior to steroidogenic axis organogenesis. Gene Expr. Patterns 2004, 4:3-14.
23. Crawford P.A., Dorn C., Sadovsky Y., Milbrandt J. Nuclear receptor DAX-1 recruits nuclear receptor corepressor N-CoR to steroidogenic factor 1. Mol. Cell Biol. 1998, 18:2949-2956.
24. Dacou C., Di George A.M. Evidence for an X-linked form of congenital adrenal hypoplasia (abstract 89), Program of the thirty-eighth annual meeting of the soiety for pediatric research 1968, Atlantic City, New Jersey.
25. Dipple K.M., McCabe E.R. Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics. Am. J. Hum. Genet. 2000, 66:1729-1735.
26. Domenice S., Latronico A.C., Brito V.N., Arnhold I.J., Kok F., Mendonca B.B. Adrenocorticotropin-dependent precocious puberty of testicular origin in a boy with X-linked adrenal hypoplasia congenita due to a novel mutation in the DAX1 gene. J. Clin. Endocrinol. Metab. 2001, 86:4068-4071.
27. Dorn C., Ou Q., Svaren J., Crawford P.A., Sadovsky Y. Activation of luteinizing hormone beta gene by gonadotropin-releasing hormone requires the synergy of early growth response-1 and steroidogenic factor-1. J. Biol. Chem. 1999, 274:13870-13876.
28. Eicher E.M., Washburn L.L., Schork N.J., Lee B.K., Shown E.P., Xu X., Dredge R.D., Pringle M.J., Page D.C. Sex-determining genes on mouse autosomes identified by linkage analysis of C57BL/6J-YPOS sex reversal. Nat. Genet. 1996, 14:206-209.
29. Francke U., Harper J.F., Darras B.T., Cowan J.M., McCabe E.R., Kohlschutter A., Seltzer W.K., Saito F., Goto J., Harpey J.P., et al. Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions. Am. J. Hum. Genet. 1987, 40:212-227.
30. Franzese A., Brunetti-Pierri N., Spagnuolo M.I., Spadaro R., Giugliano M., Mukai T., Valerio G. Inappropriate tall stature and renal ectopy in a male patient with X-linked congenital adrenal hypoplasia due to a novel missense mutation in the DAX-1 gene. Am. J. Med. Genet. A. 2005, 135:72-74.
31. Frapsauce C., Ravel C., Legendre M., Sibony M., Mandelbaum J., Donadille B., Achermann J.C., Siffroi J.P., Christin-Maitre S. Birth after TESE-ICSI in a man with hypogonadotropic hypogonadism and congenital adrenal hypoplasia linked to a DAX-1 (NR0B1) mutation. Hum. Reprod. 2011, 26:724-728.
32. Garcia-Aragoncillo E., Carrillo J., Lalli E., Agra N., Gomez-Lopez G., Pestana A., Alonso J. DAX1, a direct target of EWS/FLI1 oncoprotein, is a principal regulator of cell-cycle progression in Ewing's tumor cells. Oncogene 2008, 27:6034-6043.
33. Garcia-Malpartida K., Gomez-Balaguer M., Sola-Izquierdo E., Fuentes-Pardilla M.J., Jover-Fernandez A., Sanz-Ruiz I., Hernandez-Mijares A. A novel mutation in DAX1 (NR0B1) causing X-linked adrenal hypoplasia congenita: clinical, hormonal and genetic analysis. Endocrine 2009, 36:275-280.
34. Golden M.P., Lippe B.M., Kaplan S.A. Congenital adrenal hypoplasia and hypogonadotropic hypogonadism. Am. J. Dis. Child. 1977, 131:1117-1118.
35. Goonewardena P., Dahl N., Ritzen M., van Ommen G.J., Pettersson U. Molecular Xp deletion in a male: suggestion of a locus for hypogonadotropic hypogonadism distal to the glycerol kinase and adrenal hypoplasia loci. Clin. Genet. 1989, 35:5-12.
36. Gordon D., Cohen H.N., Beastall G.H., Hay I.D., Thomson J.A. Contrasting effects of subcutaneous pulsatile GnRH therapy in congenital adrenal hypoplasia and Kallmann's syndrome. Clin. Endocrinol. (Oxf). 1984, 21:597-603.
37. Goto M., Katsumata N. X-linked adrenal hypoplasia congenita caused by a novel intronic mutation of the DAX-1 gene. Horm. Res. 2009, 71:120-124.
38. Guo W., Mason J.S., Stone C.G., Morgan S.A., Madu S.I., Baldini A., Lindsay E.A., Biesecker L.G., Copeland K.C., Horlick M.N., et al. Diagnosis of X-linked adrenal hypoplasia congenita by mutation analysis of the DAX1 gene. JAMA 1995, 274:324-330.
39. Guo W., Burris T.P., Zhang Y.H., Huang B.L., Mason J., Copeland K.C., Kupfer S.R., Pagon R.A., McCabe E.R. Genomic sequence of the DAX1 gene: an orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. J. Clin. Endocrinol. Metab. 1996, 81:2481-2486.
40. Habiby R.L., Boepple P., Nachtigall L., Sluss P.M., Crowley W.F., Jameson J.L. Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: evidence that DAX-1 mutations lead to combined hypothalmic and pituitary defects in gonadotropin production. J. Clin. Invest. 1996, 98:1055-1062.
41. Hamaguchi K., Arikawa M., Yasunaga S., Kakuma T., Fukagawa K., Yanase T., Nawata H., Sakata T. Novel mutation of the DAX1 gene in a patient with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Am. J. Med. Genet. 1998, 76:62-66.
42. Hammond J., Howard N.J., Brookwell R., Purvis-Smith S., Wilcken B., Hoogenraad N. Proposed assignment of loci for X-linked adrenal hypoplasia and glycerol kinase genes. Lancet 1985, 1:54.
43. Hay I.D., Smail P.J., Forsyth C.C. Familial cytomegalic adrenocortical hypoplasia: an X-linked syndrome of pubertal failure. Arch. Dis. Child. 1981, 56:715-721.
44. Holter E., Kotaja N., Makela S., Strauss L., Kietz S., Janne O.A., Gustafsson J.A., Palvimo J.J., Treuter E. Inhibition of androgen receptor (AR) function by the reproductive orphan nuclear receptor DAX-1. Mol. Endocrinol. 2002, 16:515-528.
45. Ikeda Y., Swain A., Weber T.J., Hentges K.E., Zanaria E., Lalli E., Tamai K.T., Sassone-Corsi P., Lovell-Badge R., Camerino G., Parker K.L. Steroidogenic factor 1 and Dax-1 colocalize in multiple cell lineages: potential links in endocrine development. Mol. Endocrinol. 1996, 10:1261-1272.
46. Ikeda Y., Takeda Y., Shikayama T., Mukai T., Hisano S., Morohashi K.I. Comparative localization of Dax-1 and Ad4BP/SF-1 during development of the hypothalamic-pituitary-gonadal axis suggests their closely related and distinct functions. Dev. Dyn. 2001, 220:363-376.
47. Ito M., Yu R., Jameson J.L. DAX-1 inhibits SF-1-mediated transactivation via a carboxy-terminal domain that is deleted in adrenal hypoplasia congenita. Mol. Cell Biol. 1997, 17:1476-1483.
48. Iyer A.K., McCabe E.R. Molecular mechanisms of DAX1 action. Mol. Genet. Metab. 2004, 83:60-73.
49. Jeffs B., Meeks J.J., Ito M., Martinson F.A., Matzuk M.M., Jameson J.L., Russell L.D. Blockage of the rete testis and efferent ductules by ectopic Sertoli and Leydig cells causes infertility in Dax1-deficient male mice. Endocrinology 2001, 142:4486-4495.
50. Jimenez P., Saner K., Mayhew B., Rainey W.E. GATA-6 is expressed in the human adrenal and regulates transcription of genes required for adrenal androgen biosynthesis. Endocrinology 2003, 144:4285-4288.
51. Kawajiri K., Ikuta T., Suzuki T., Kusaka M., Muramatsu M., Fujieda K., Tachibana M., Morohashi K. Role of the LXXLL-motif and activation function 2 domain in subcellular localization of Dax-1 (dosage-sensitive sex reversal-adrenal hypoplasia congenita critical region on the X chromosome, gene 1). Mol. Endocrinol. 2003, 17:994-1004.
52. Kelch R.P., Virdis R., Rapaport R., Greig F., Levine L.S. Congenital adrenal hypoplasia. Pediatric. Adoles. Endocrinol. 1984, 13:156-161.
53. Kelly, V.R. and Hammer, G.D., 2010. LRH-1 and Nanog regulate Dax1 transcription in mouse embryonic stem cells, Mol Cell Endocrinol.
54. Kelly W.F., Joplin G.F., Pearson G.W. Gonadotrophin deficiency and adrenocortical insufficiency in children: a new syndrome. Br. Med. J. 1977, 2:98.
55. Kelly, V.R., Xu, B., Kuick, R., Koenig, R.J. and Hammer, G.D., 2010. Dax1 up-regulates Oct4 expression in mouse embryonic stem cells via LRH-1 and SRA, Mol. Endocrinol.
56. Kerenyi N. Congenital adrenal hypoplasia. Report of a case with extreme adrenal hypoplasia and neurohypophyseal aplasia, drawing attention to certain aspects of etiology and classification. Arch. Pathol. 1961, 71:336-343.
57. Kikuchi K., Kaji M., Momoi T., Mikawa H., Shigematsu Y., Sudo M. Failure to induce puberty in a man with X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism by pulsatile administration of low-dose gonadotropin-releasing hormone. Acta Endocrinol. (Copenh). 1987, 114:153-160.
58. Kim J., Chu J., Shen X., Wang J., Orkin S.H. An extended transcriptional network for pluripotency of embryonic stem cells. Cell 2008, 132:1049-1061.
59. Kim A.C., Barlaskar F.M., Heaton J.H., Else T., Kelly V.R., Krill K.T., Scheys J.O., Simon D.P., Trovato A., Yang W.H., Hammer G.D. In search of adrenocortical stem and progenitor cells. Endocr. Rev. 2009, 30:241-263.
60. Kinoshita E., Yoshimoto M., Motomura K., Kawaguchi T., Mori R., Baba T., Nishijo K., Hasegawa T., Momoi T., Yorihuji T. DAX-1 gene mutations and deletions in Japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Horm. Res. 1997, 48:29-34.
61. Kletter G.B., Gorski J.L., Kelch R.P. Congenital adrenal hypoplasia and isolated gonadotropin deficiency. Trends Endocrinol. Metab. 1991, 2:123-128.
62. Krone N., Riepe F.G., Dorr H.G., Morlot M., Rudorff K.H., Drop S.L., Weigel J., Pura M., Kreze A., Boronat M., de Luca F., Tiulpakov A., Partsch C.J., Peter M., Sippell W.G. Thirteen novel mutations in the NR0B1 (DAX1) gene as cause of adrenal hypoplasia congenita. Hum. Mutat. 2005, 25:502-503.
63. Kruse K., Sippell W.G., Schnakenburg K.V. Hypogonadism in congenital adrenal hypoplasia: evidence for a hypothalamic origin. J. Clin. Endocrinol. Metab. 1984, 58:12-17.
64. Laissue P., Copelli S., Bergada I., Bergada C., Barrio G., Karaboga S., Wurtz J.M., Fellous M., Lalli E., Veitia R.A. Partial defects in transcriptional activity of two novel DAX-1 mutations in childhood-onset adrenal hypoplasia congenita. Clin. Endocrinol. (Oxf). 2006, 65:681-686.
65. Lalli E., Ohe K., Hindelang C., Sassone-Corsi P. Orphan receptor DAX-1 is a shuttling RNA binding protein associated with polyribosomes via mRNA. Mol. Cell Biol. 2000, 20:4910-4921.
66. Lam C.W., Cheng A.W., Poon W.T., Yuen Y.P., Huen K.F. Novel mutation, c.1234delA, in the DAX1 gene in congenital adrenal hypoplasia. Clin. Chim. Acta 2006, 374:151-152.
67. Landau Z., Hanukoglu A., Sack J., Goldstein N., Weintrob N., Eliakim A., Gillis D., Sagi M., Shomrat R., Kosinovsky E.B., Anikster Y. Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to NR0B1 gene mutations. Clin. Endocrinol. (Oxf). 2010, 72:448-454.
68. Lehmann S.G., Lalli E., Sassone-Corsi P. X-linked adrenal hypoplasia congenita is caused by abnormal nuclear localization of the DAX-1 protein. Proc. Natl. Acad. Sci. USA 2002, 99:8225-8230.
69. Lehmann S.G., Wurtz J.M., Renaud J.P., Sassone-Corsi P., Lalli E. Structure-function analysis reveals the molecular determinants of the impaired biological function of DAX-1 mutants in AHC patients. Hum. Mol. Genet. 2003, 12:1063-1072.
70. Li N., Liu R., Zhang H., Yang J., Sun S., Zhang M., Liu Y., Lu Y., Wang W., Mu Y., Ning G., Li X. Seven novel DAX1 mutations with loss of function identified in Chinese patients with congenital adrenal hypoplasia. J. Clin. Endocrinol. Metab. 2010, 95:E104-E111.
71. Lin L., Gu W.X., Ozisik G., To W.S., Owen C.J., Jameson J.L., Achermann J.C. Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: 10years' experience. J. Clin. Endocrinol. Metab. 2006, 91:3048-3054.
72. Lonard D.M., Lanz R.B., O'Malley B.W. Nuclear receptor coregulators and human disease. Endocr. Rev. 2007, 28:575-587.
73. Luo X., Ikeda Y., Parker K.L. A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation. Cell 1994, 77:481-490.
74. Mamelle J.C., David M., Riou D., Gilly J., Trouillas J., Dutruge J., Gilly R. Congenital adrenal hypoplasia of cytomegalic type. Recessive, sex-linked form. Apropos of 3 cases. Arch. Fr. Pediatr. 1975, 32:139-159.
75. Mandel J.L., Willard H.F., Nussbaum R.L., Romeo G., Puck J.M., Davies K.E. Report of the committee on the genetic constitution of the X chromosome. Cytogenet. Cell Genet. 1989, 51:384-437.
76. Mantovani G., Ozisik G., Achermann J.C., Romoli R., Borretta G., Persani L., Spada A., Jameson J.L., Beck-Peccoz P. Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita. J. Clin. Endocrinol. Metab. 2002, 87:44-48.
77. Meeks J.J., Crawford S.E., Russell T.A., Morohashi K., Weiss J., Jameson J.L. Dax1 regulates testis cord organization during gonadal differentiation. Development 2003, 130:1029-1036.
78. Meeks J.J., Weiss J., Jameson J.L. Dax1 is required for testis determination. Nat. Genet. 2003, 34:32-33.
79. Meloni A., Cao A., Rosatelli M.C. New frameshift mutation in the DAX-1 gene in a patient with X-linked adrenal hypoplasia and hypogonadotropic hypogonadism. Hum. Mutat. 1996, 8:183-184.
80. Mericq V., Ciaccio M., Marino R., Lamoglia J.J., Viterbo G., Rivarola M.A., Belgorosky A. A new DAX-1 mutation in a family with a case of neonatal adrenal insufficiency and a sibling with adrenal hypoplasia and sudden death at 3 years of age. J. Pediatr. Endocrinol. Metab. 2007, 20:1039-1043.
81. Merke D.P., Tajima T., Baron J., Cutler G.B. Hypogonadotropic hypogonadism in a female caused by an X-linked recessive mutation in the DAX1 gene. N. Engl. J. Med. 1999, 340:1248-1252.
82. Mitchell R.G., Rhaney K. Congenital adrenal hypoplasia in siblings. Lancet 1959, 1:488-492.
83. Muscatelli F., Strom T.M., Walker A.P., Zanaria E., Recan D., Meindl A., Bardoni B., Guioli S., Zehetner G., Rabl W., et al. Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Nature 1994, 372:672-676.
84. Nachtigal M.W., Hirokawa Y., Enyeart-VanHouten D.L., Flanagan J.N., Hammer G.D., Ingraham H.A. Wilms' tumor 1 and Dax-1 modulate the orphan nuclear receptor SF-1 in sex-specific gene expression. Cell 1998, 93:445-454.
85. Nakae J., Tajima T., Kusuda S., Kohda N., Okabe T., Shinohara N., Kato M., Murashita M., Mukai T., Imanaka K., Fujieda K. Truncation at the C-terminus of the DAX-1 protein impairs its biological actions in patients with X-linked adrenal hypoplasia congenita. J. Clin. Endocrinol. Metab. 1996, 81:3680-3685.
86. Nakae J., Abe S., Tajima T., Shinohara N., Murashita M., Igarashi Y., Kusuda S., Suzuki J., Fujieda K. Three novel mutations and a de novo deletion mutation of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita. J. Clin. Endocrinol. Metab. 1997, 82:3835-3841.
87. Niakan K.K., Davis E.C., Clipsham R.C., Jiang M., Dehart D.B., Sulik K.K., McCabe E.R. Novel role for the orphan nuclear receptor Dax1 in embryogenesis, different from steroidogenesis. Mol. Genet. Metab. 2006, 88:261-271.
88. Okuhara K., Abe S., Kondo T., Fujita K., Koda N., Mochizuki H., Fujieda K., Tajima T. Four Japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by DAX-1 gene mutations: mutant DAX-1 failed to repress steroidogenic acute regulatory protein (StAR) and luteinizing hormone beta-subunit gene promoter activity. Endocr. J. 2008, 55:97-103.
89. Ozisik G., Mantovani G., Achermann J.C., Persani L., Spada A., Weiss J., Beck-Peccoz P., Jameson J.L. An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita. J. Clin. Endocrinol. Metab. 2003, 88:417-423.
90. Park S.Y., Lee E.J., Emge D., Jahn C.L., Jameson J.L. A phenotypic spectrum of sexual development in Dax1 (Nr0b1)-deficient mice. consequence of the C57BL/6J strain on sex determination. Biol. Reprod. 2008, 79:1038-1045.
91. Partsch C.J., Sippell W.G. Hypothalamic hypogonadism in congenital adrenal hypoplasia. Horm. Metab. Res. 1989, 21:623-625.
92. Peter M., Viemann M., Partsch C.J., Sippell W.G. Congenital adrenal hypoplasia: clinical spectrum, experience with hormonal diagnosis, and report on new point mutations of the DAX-1 gene. J. Clin. Endocr. Metab. 1998, 83:2666-2674.
93. Petersen K.E., Bille T., Jacobsen B.B., Iversen T. X-linked congenital adrenal hypoplasia. A study of five generations of a Greenlandic Family. Acta Paediatr. Scand. 1982, 71:947-951.
94. Pitteloud N., Thambundit A., Dwyer A.A., Falardeau J.L., Plummer L., Caronia L.M., Hayes F.J., Lee H., Boepple P.A., Crowley W.F. Role of seminiferous tubular development in determining the FSH versus LH responsiveness to GnRH in early sexual maturation. Neuroendocrinology 2009, 90:260-268.
95. Prader A., Zachmann M., Illig R. Luteinizing hormone deficiency in hereditary congenital adrenal hypoplasia. J. Pediatr. 1975, 86:421-422.
96. Reutens A.T., Achermann J.C., Ito M., Gu W.X., Habiby R.L., Donohoue P.A., Pang S., Hindmarsh P.C., Jameson J.L. Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita. J. Clin. Endocrinol. Metab. 1999, 84:504-511.
97. Salvi R., Gomez F., Fiaux M., Schorderet D., Jameson J.L., Achermann J.C., Gaillard R.C., Pralong F.P. Progressive onset of adrenal insufficiency and hypogonadism of pituitary origin caused by a complex genetic rearrangement within DAX-1. J. Clin. Endocrinol. Metab. 2002, 87:4094-4100.
98. Schwartz M., Blichfeldt S., Muller J. X-linked adrenal hypoplasia in a large Greenlandic family. Detection of a missense mutation (N4401) in the DAX-1 gene; implication for genetic counselling and carrier diagnosis. Hum. Genet 1997, 99:83-87.
99. Scriver C.R., Waters P.J. Monogenic traits are not simple: lessons from phenylketonuria. Trends Genet. 1999, 15:267-272.
100. Sekiguchi Y., Hara Y., Matsuoka H., Hayashi Y., Katsumata N., Hirata Y. Sibling cases of Addison's disease caused by DAX-1 gene mutations. Intern. Med. 2007, 46:35-39.
101. Seminara S.B., Achermann J.C., Genel M., Jameson J.L., Crowley W.F. X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females. J. Clin. Endocr. Metab. 1999, 84:4501-4509.
102. Shaikh M.G., Boyes L., Kingston H., Collins R., Besley G.T., Padmakumar B., Ismayl O., Hughes I., Hall C.M., Hellerud C., Achermann J.C., Clayton P.E. Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita. J. Med. Genet. 2008, 45:e1.
103. Sikl H. Addison's disease due to congenital hypoplasia of the adrenals in an infant aged 33days. J. Pathol. Bacteriol. 1948, 60:323.
104. Sills I.N., Voorhess M.L., MacGillivray M.H., Peterson R.E. Prolonged survival without therapy in congenital adrenal hypoplasia. Am. J. Dis. Child 1983, 137:1186-1188.
105. Smyk M., Berg J.S., Pursley A., Curtis F.K., Fernandez B.A., Bien-Willner G.A., Lupski J.R., Cheung S.W., Stankiewicz P. Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1). Hum. Genet. 2007, 122:63-70.
106. Suzuki T., Kasahara M., Yoshioka H., Morohashi K., Umesono K. LXXLL-related motifs in Dax-1 have target specificity for the orphan nuclear receptors Ad4BP/SF-1 and LRH-1. Mol. Cell Biol. 2003, 23:238-249.
107. Swain A., Zanaria E., Hacker A., Lovell-Badge R., Camerino G. Mouse Dax1 expression is consistent with a role in sex determination as well as in adrenal and hypothalamus function. Nat. Genet. 1996, 12:404-409.
108. Swain A., Narvaez V., Burgoyne P., Camerino G., Lovell-Badge R. Dax1 antagonizes Sry action in mammalian sex determination. Nature 1998, 391:761-767.
109. Sykiotis G.P., Hoang X.H., Avbelj M., Hayes F.J., Thambundit A., Dwyer A., Au M., Plummer L., Crowley W.F., Pitteloud N. Congenital idiopathic hypogonadotropic hypogonadism: evidence of defects in the hypothalamus, pituitary, and testes. J. Clin. Endocrinol. Metab. 2010, 95:3019-3027.
110. Tabarin A., Achermann J.C., Recan D., Bex V., Bertagna X., Christin-Maitre S., Ito M., Jameson J.L., Bouchard P. A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism. J. Clin. Invest. 2000, 105:321-328.
111. Takahashi T., Shoji Y., Haraguchi N., Takahashi I., Takada G. Active hypothalamic-pituitary-gonadal axis in an infant with X-linked adrenal hypoplasia congenita. J. Pediatr. 1997, 130:485-488.
112. Tee M.K., Lin D., Sugawara T., Holt J.A., Guiguen Y., Buckingham B., Strauss J.F., Miller W.L. T→A transversion 11 bp from a splice acceptor site in the human gene for steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasia. Hum. Mol. Genet. 1995, 4:2299-2305.
113. Tsai W.Y., Tung Y.C. Novel deletion mutations of the DAX1 (NR0B1) gene in two Taiwanese families with X-linked adrenal hypoplasia congenita. J. Pediatr. Endocrinol. Metab. 2005, 18:991-997.
114. Uttley W.S. Familial congenital adrenal hypoplasia. Arch. Dis. Child. 1968, 43:724-730.
115. Verrijn Stuart A.A., Ozisik G., de Vroede M.A., Giltay J.C., Sinke R.J., Peterson T.J., Harris R.M., Weiss J., Jameson J.L. An amino-terminal DAX1 (NROB1) missense mutation associated with isolated mineralocorticoid deficiency. J. Clin. Endocrinol. Metab. 2007, 92:755-761.
116. Wang J., Killinger D.W., Hegele R.A. A microdeletion within DAX-1 in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism. J. Investig. Med. 1999, 47:232-235.
117. Wiltshire E., Couper J., Rodda C., Jameson J.L., Achermann J.C. Variable presentation of X-linked adrenal hypoplasia congenita. J. Pediatr. Endocrinol. Metab. 2001, 14:1093-1096.
118. Worley K.C., Ellison K.A., Zhang Y.H., Wang D.F., Mason J., Roth E.J., Adams V., Fogt D.D., Zhu X.M., Towbin J.A., et al. Yeast artificial chromosome cloning in the glycerol kinase and adrenal hypoplasia congenita region of Xp21. Genomics 1993, 16:407-416.
119. Wu, C.M., Zhang, H.B., Zhou, Q., Wan, L., Jin, J., Ni, L., Pan, Y.J., Wu, X.Y. and Ruan, L.Y., 2011. Two novel DAX1 gene mutations in Chinese patients with X-linked adrenal hypoplasia congenita: clinical, hormonal and genetic analysis, J. Endocrinol. Invest.
120. Yanase T., Takayanagi R., Oba K., Nishi Y., Ohe K., Nawata H. New mutations of DAX-1 genes in two Japanese patients with X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. J. Clin. Endocrinol. Metab. 1996, 81:530-535.
121. Yu R.N., Ito M., Jameson J.L. The murine Dax-1 promoter is stimulated by SF-1 (steroidogenic factor-1) and inhibited by COUP-TF (chicken ovalbumin upstream promoter-transcription factor) via a composite nuclear receptor-regulatory element. Mol. Endocrinol. 1998, 12:1010-1022.
122. Yu R.N., Ito M., Saunders T.L., Camper S.A., Jameson J.L. Role of Ahch in gonadal development and gametogenesis. Nat. Genet. 1998, 20:353-357.
123. Zachmann M., Illig R., Prader A. Gonadotropin deficiency and cryptorchidism in three prepubertal brothers with congenital adrenal hypoplasia. J. Pediatr. 1980, 97:255-257.
124. Zanaria E., Muscatelli F., Bardoni B., Strom T.M., Guioli S., Guo W., Lalli E., Moser C., Walker A.P., McCabe E.R., et al. An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita. Nature 1994, 372:635-641.
125. Zhang Y.H., Guo W., Wagner R.L., Huang B.L., McCabe L., Vilain E., Burris T.P., Anyane-Yeboa K., Burghes A.H., Chitayat D., Chudley A.E., Genel M., Gertner J.M., Klingensmith G.J., Levine S.N., Nakamoto J., New M.I., Pagon R.A., Pappas J.G., Quigley C.A., Rosenthal I.M., Baxter J.D., Fletterick R.J., McCabe E.R. DAX1 mutations map to putative structural domains in a deduced three-dimensional model. Am. J. Hum. Genet. 1998, 62:855-864.
126. Zhang H., Thomsen J.S., Johansson L., Gustafsson J.A., Treuter E. DAX-1 functions as an LXXLL-containing corepressor for activated estrogen receptors. J. Biol. Chem. 2000, 275:39855-39859.
127. Zhang Y.H., Huang B.L., Anyane-Yeboa K., Carvalho J.A., Clemons R.D., Cole T., De Figueiredo B.C., Lubinsky M., Metzger D.L., Quadrelli R., Repaske D.R., Reyno S., Seaver L.H., Vaglio A., Van Vliet G., McCabe L.L., McCabe E.R., Phelan J.K. Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita. Hum. Mutat. 2001, 18:547.