-
1
-
-
33748779292
-
-
Thyen U, Lanz K, Holterhus PM, Hiort O (2006) Epidemiology and initial management of ambiguous genitalia at birth in Germany. Horm Res 66:195-203
-
(2006)
Horm Res
, vol.66
, pp. 195
-
-
Thyen1
-
2
-
-
3042762359
-
-
Brennan J, Capel B (2004) One tissue, two fates: molecular genetic events that underlie testis versus ovary development. Nat. Rev Genetics 5:509-521
-
(2004)
Nat. Rev Genetics
, vol.5
, pp. 509
-
-
Brennan1
-
3
-
-
12744260259
-
-
Fleming A, Vilain E (2005) The endless quest for sex determination genes. Clin Genet 67:15-25
-
(2005)
Clin Genet
, vol.67
, pp. 15
-
-
Fleming1
-
4
-
-
4544227743
-
-
Cui S, Ross A, Stallings N, et al. (2004) Disrupted gonadogenesis and male-to-female sex reversal in Pod1 knockout mice. Development 131:4095-4105
-
(2004)
Development
, vol.131
, pp. 4095
-
-
Cui1
-
5
-
-
0027957103
-
-
Bardoni B, Zanaria E, Guioli S, et al. (1994) A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nat Genet 7:497-501
-
(1994)
Nat Genet
, vol.7
, pp. 497
-
-
Bardoni1
-
6
-
-
0035937405
-
-
Colvin JS, Green RP, Schmahl J, et al. (2001) Maleto- female sex reversal in mice lacking fibroblast growth factor 9. Cell 104:875-889
-
(2001)
Cell
, vol.104
, pp. 875
-
-
Colvin1
-
7
-
-
0027316087
-
-
Bennett CP, Docherty Z, Robbs SA, et al. (1993) Deletion 9p and sex reversal. J Med Genet 30:518-520
-
(1993)
J Med Genet
, vol.30
, pp. 518
-
-
Bennett1
-
8
-
-
0037994140
-
-
Meeks JJ, Weiss J, Jameson JL (2003) Dax1 is required for testis determination. Nat Genet 34:32-33
-
(2003)
Nat Genet
, vol.34
, pp. 32
-
-
Meeks1
-
9
-
-
18244418780
-
-
Röpke A, Pelz AF, Volleth M, et al. (2004) Sex chromosomal mosaicism in the gonads of patients with gonadal dysgenesis, but normal female or male karyotypes in lymphocytes. Am J Obstet Gynecol 190:1059-1062
-
(2004)
Am J Obstet Gynecol
, vol.190
, pp. 1059
-
-
Röpke1
-
10
-
-
0035096778
-
-
Köhler B, Schumacher V, l'Allemand D, et al. (2001) Germline Wilms tumor suppressor gene (WT1) mutation leading to isolated genital malformation without Wilms tumor or nephropathy. J Pediatr 138:421-424
-
(2001)
J Pediatr
, vol.138
, pp. 421
-
-
Köhler1
-
11
-
-
3242679937
-
-
Köhler B, Pienkowski C, Audran F, et al. (2004) An N-terminal WT1 mutation (P181S) in an XY patient with ambiguous genitalia, normal testosterone production, absence of kidney disease and associated heart defect: enlarging the phenotypic spectrum of WT1 defects. Eur J Endocrinol 150:825-830
-
(2004)
Eur J Endocrinol
, vol.150
, pp. 825
-
-
Köhler1
-
12
-
-
0034049679
-
-
Hiort O, Holterhus PM (2000) The molecular basis of male sexual differentiation. Eur J Endocrinol 142:101-110. Review
-
(2000)
Eur J Endocrinol
, vol.142
, pp. 101
-
-
Hiort1
-
13
-
-
0032990419
-
-
Achermann JC, Ito M, Ito M, et al. (1999) A mutation in the gene encoding steroidogenic factor 1 causes XY sex reversal and adrenal failure in humans. Nat Genet 22:125-126
-
(1999)
Nat Genet
, vol.22
, pp. 125
-
-
Achermann1
-
14
-
-
0025877323
-
-
Koopman P, Gubbay J, Vivian N, et al. (1991) Male development of chromosomally female mice transgenic for Sry. Nature 351:117-121
-
(1991)
Nature
, vol.351
, pp. 117
-
-
Koopman1
-
15
-
-
0346502851
-
-
MacLaughlin DT, Donahoe PK (2004) Sex determination and differentiation. N Engl J Med 350:367-378
-
(2004)
N Engl J Med
, vol.350
, pp. 367
-
-
MacLaughlin, D.T.1
-
16
-
-
0035002512
-
-
Jordan BK, Mohammed M, Ching ST, et al. (2001) Up-Regulation of WNT-4 signaling and dosagesensitive sex reversal in humans. Am J Hum Genet 68:1102-1109
-
(2001)
Am J Hum Genet
, vol.68
, pp. 1102
-
-
Jordan1
-
17
-
-
37149044239
-
Molecular and hormone dependent events in sexual differentiation
-
Henry A, Norman A (eds) Academic Press, Los Angeles
-
Hiort O, Holterhus PM (2004) Molecular and hormone dependent events in sexual differentiation. In Henry A, Norman A (eds): Encyclopedia of hormones. Academic Press, Los Angeles, pp 349-356
-
(2004)
Encyclopedia of Hormones
, pp. 349-356
-
-
Hiort, O.1
Holterhus, P.M.2
-
18
-
-
0036155670
-
-
Richter-Unruh A, Martens JW, Verhoef-Post M, et al. (2002). Leydig cell hypoplasia: cases with new mutations, new polymorphisms and cases without mutations in the luteinizing hormone receptor gene. Clin Endocrinol 56:103-112
-
(2002)
Clin Endocrinol
, vol.56
, pp. 103
-
-
Richter-Unruh1
-
19
-
-
0034478072
-
-
Latronico AC (2000) Naturally occurring mutations of the luteinizing hormone receptor gene affecting reproduction. Semin Reprod Med 18:17-20
-
(2000)
Semin Reprod Med
, vol.18
, pp. 17
-
-
Latronico1
-
20
-
-
12244295770
-
-
Hiort O, Holterhus PM, Werner R, et al. (2005) Homozygous disruption of P450scc (CYP11A1) is associated with prematurity, complete 46,XY sex reversal and severe adrenal failure. J Clin Endocrinol Metab 90:538-541
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 538
-
-
Hiort1
-
21
-
-
0032038565
-
-
Miller WL (1998) Why nobody has P450scc (20,22 desmoslase) deficiency. J Clin Endocrinol Metab 83:1399-1400
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 1399
-
-
Miller1
-
22
-
-
0035037602
-
-
Pang S (2001) Congenital adrenal hyperplasia owing to 3 beta-hydroxysteroid dehydrogenase deficiency. Endocrinol Metab Clin North Am 30:81-99, vi-vii
-
(2001)
Endocrinol Metab Clin North Am
, vol.30
, pp. 81
-
-
Pang1
-
23
-
-
2342542343
-
-
Forest MG, Nicolino M, David M, Morel Y (2004) The virilized female: endocrine background. BJU Int 93(Suppl 3):35-43
-
(2004)
BJU Int
, vol.93
, pp. 35
-
-
Forest1
-
24
-
-
23744456985
-
-
Krone N, Riepe FG, Grötzinger J, et al. (2005) The residue E351 is essential for the activity of human 21-hydroxylase: evidence from a naturally occurring novel point mutation compared with artificial mutants generated by single amino acid substitutions. J Mol Med 83:561-568
-
(2005)
J Mol Med
, vol.83
, pp. 561
-
-
Krone1
-
25
-
-
21244499036
-
-
Krone N, Riepe FG, Götze D, et al. (2005) Congenital adrenal hyperplasia (CAH) due to 11-hydroxylase deficiency: functional characterization of two novel point mutations and a three base pair deletion in the CYP11B1 gene. J Clin Endocrinol Metab 90:3724-3730
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 3724
-
-
Krone1
-
26
-
-
18844402672
-
-
Riepe FG, Tatzel S, Sippell WG, et al. (2005) Congenital adrenal hyperplasia: the molecular basis of 21-hydroxylase deficiency in H-2(aw18) mice. Endocrinology 146:2563-2574
-
(2005)
Endocrinology
, vol.146
, pp. 2563
-
-
Riepe1
-
27
-
-
78651037802
-
-
Prader A (1954) Genital findings in the female pseudo-hermaphroditism of the congenital adrenogenital syndrome; morphology, frequency, development and heredity of the different genital forms. Helv Paediatr Acta 9:231-248
-
(1954)
Helv Paediatr Acta
, vol.9
, pp. 231
-
-
Prader1
-
28
-
-
0029986454
-
-
Hiort O, Sinnecker GH, Holterhus PM, et al. (1996) The clinical and molecular spectrum of androgen insensitivity syndromes. Am J Med Genet 63:218-222
-
(1996)
Am J Med Genet
, vol.63
, pp. 218
-
-
Hiort1
-
29
-
-
0029835366
-
-
Hiort O, Sinnecker GH, Willenbring H, et al. (1996) Nonisotopic single strand conformation analysis of the 5 alpha-reductase type 2 gene for the diagnosis of 5 alpha-reductase deficiency. J Clin Endocrinol Metab 81:3415-3418
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 3415
-
-
Hiort1
-
30
-
-
0033802937
-
-
Twesten W, Holterhus P, Sippell W, et al. (2000) Clinical, endocrine, and molecular genetic findings in patients with 17β-hydroxysteroid dehydrogenase deficiency. Horm Res 53:26-31
-
(2000)
Horm Res
, vol.53
, pp. 26
-
-
Twesten1
-
31
-
-
0141891967
-
-
Hiort O, Reinecke S, Thyen U, et al. (2003). Puberty in disorders of somatosexual differentiation. J Pediatr Endocrinol Metab 16(Suppl 2):297-306
-
(2003)
J Pediatr Endocrinol Metab
, vol.16
, pp. 297
-
-
Hiort1
-
32
-
-
21344470386
-
-
Thiele S, Hoppe U, Holterhus PM, Hiort O (2005) Isoenzyme type 1 of 5alpha-reductase is abundantly transcribed in normal human genital skin fibroblasts and may play an important role in masculinization of 5alpha-reductase type 2 deficient males. Eur J Endocrinol 152:875-880
-
(2005)
Eur J Endocrinol
, vol.152
, pp. 875
-
-
Thiele1
-
33
-
-
33746740095
-
-
Hoppe U, Holterhus PM, Wunsch L, et al. (2006) Tissue-specific transcription profiles of sex steroid biosynthesis enzymes and the androgen receptor. J Mol Med 84:651-669
-
(2006)
J Mol Med
, vol.84
, pp. 651
-
-
Hoppe1
-
34
-
-
33748752321
-
-
Werner R, Holterhus PM, Binder G, et al. (2006) The A645D Mutation in the hinge region of the human AR gene modulates AR activity depending on the context of the polymorphic glutamine and glycine repeats. J Clin Endocrinol Metab 91:3515-3520
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 3515
-
-
Werner1
-
35
-
-
33750457376
-
-
Bebermeier JH, Brooks JD, Deprimo SE, et al. (2006) Cell-line and tissue-specific signatures of androgen receptor-coregulator transcription. J Mol Med 84:919-931
-
(2006)
J Mol Med
, vol.84
, pp. 919
-
-
Bebermeier1
-
36
-
-
33748058145
-
-
Werner R, Schutt J, Hannema S, et al. (2006) Androgen receptor gene mutations in androgen insensitivity syndrome cause distinct patterns of reduced activation of androgen-responsive promoter constructs. J Steroid Biochem Mol Biol 101:1-10
-
(2006)
J Steroid Biochem Mol Biol
, vol.101
, pp. 1
-
-
Werner1
-
37
-
-
37149036667
-
-
Hughes IA, Houk C, Ahmed SF, Lee PA & LWPES/ ESPE Consensus Group (2006) Consensus Statement on Management of Intersex Disorders. Arch Dis Child 14:37-45
-
(2006)
Arch Dis Child
, vol.14
, pp. 37
-
-
Hughes1
-
38
-
-
33845972611
-
-
Johannsen TH, Ripa CP, Mortensen EL, Main KM (2006) Quality of life in 70 women with disorders of sex development. Eur J Endocrinol 155:877-885
-
(2006)
Eur J Endocrinol
, vol.155
, pp. 877
-
-
Johannsen1
|