-
2
-
-
0000255618
-
Precocious growth of sexual hair without other secondary sexual development; Premature pubarche, a constitutional variation of adolescence
-
Silverman SH, Migeon C, Rosemberg E, Wilkins L. Precocious growth of sexual hair without other secondary sexual development; premature pubarche, a constitutional variation of adolescence. Pediatrics 1952;10:426-432.
-
(1952)
Pediatrics
, vol.10
, pp. 426-432
-
-
Silverman, S.H.1
Migeon, C.2
Rosemberg, E.3
Wilkins, L.4
-
3
-
-
0026582950
-
Natural history of premature pubarche: An auxological study
-
Ibanez L, Virdis R, Potau N, Zampolli M, Ghizzoni L, Albisu MA, Carrascosa A, Bernasconi S, Vicens-Calvet E. Natural history of premature pubarche: an auxological study. J Clin Endocrinol Metab 1992;74:254-257.
-
(1992)
J Clin Endocrinol Metab
, vol.74
, pp. 254-257
-
-
Ibanez, L.1
Virdis, R.2
Potau, N.3
Zampolli, M.4
Ghizzoni, L.5
Albisu, M.A.6
Carrascosa, A.7
Bernasconi, S.8
Vicens-Calvet, E.9
-
4
-
-
0034493776
-
Developmental changes in steroidogenic enzymes in human postnatal adrenal cortex: Immunohistochemical studies
-
Suzuki T, Sasano H, Takeyama J, Kaneko C, Freije WA, Carr BR, Rainey WE. Developmental changes in steroidogenic enzymes in human postnatal adrenal cortex: immunohistochemical studies. Clin Endocrinol (Oxf) 2000;53:739-747.
-
(2000)
Clin Endocrinol (Oxf)
, vol.53
, pp. 739-747
-
-
Suzuki, T.1
Sasano, H.2
Takeyama, J.3
Kaneko, C.4
Freije, W.A.5
Carr, B.R.6
Rainey, W.E.7
-
5
-
-
0028786656
-
Serine phosphorylation of human P450c17 increases 17,20-lyase activity: Implications for adrenarche and the polycystic ovary syndrome
-
Zhang LH, Rodriguez H, Ohno S, Miller WL. Serine phosphorylation of human P450c17 increases 17,20-lyase activity: implications for adrenarche and the polycystic ovary syndrome. Proc Natl Acad Sci USA 1995;92:10619-10623.
-
(1995)
Proc Natl Acad Sci USA
, vol.92
, pp. 10619-10623
-
-
Zhang, L.H.1
Rodriguez, H.2
Ohno, S.3
Miller, W.L.4
-
6
-
-
0031596227
-
Adrenarche results from development of a 3betahydroxysteroid dehydrogenase-deficient adrenal reticularis
-
Gell JS, Carr BR, Sasano H, Atkins B, Margraf L, Mason JI, Rainey WE. Adrenarche results from development of a 3betahydroxysteroid dehydrogenase-deficient adrenal reticularis. J Clin Endocrinol Metab 1998;83:3695-3701.
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 3695-3701
-
-
Gell, J.S.1
Carr, B.R.2
Sasano, H.3
Atkins, B.4
Margraf, L.5
Mason, J.I.6
Rainey, W.E.7
-
7
-
-
33644821997
-
Decreased androgen receptor gene methylation in premature pubarche: A novel pathogenetic mechanism?
-
Vottero A, Capelletti M, Giuliodori S, Viani I, Ziveri M, Neri TM, Bernasconi S, Ghizzoni L. Decreased androgen receptor gene methylation in premature pubarche: a novel pathogenetic mechanism? J Clin Endocrinol Metab 2006;91:968-972.
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 968-972
-
-
Vottero, A.1
Capelletti, M.2
Giuliodori, S.3
Viani, I.4
Ziveri, M.5
Neri, T.M.6
Bernasconi, S.7
Ghizzoni, L.8
-
8
-
-
0020635997
-
Benign premature adrenarche: Clinical features and serum steroid levels
-
Voutilainen R, Perheentupa J, Apter D. Benign premature adrenarche: clinical features and serum steroid levels. Acta Paediatr Scand 1983;72:707-711.
-
(1983)
Acta Paediatr Scand
, vol.72
, pp. 707-711
-
-
Voutilainen, R.1
Perheentupa, J.2
Apter, D.3
-
9
-
-
1542359478
-
Adrenarche - Physiology, biochemistry and human disease
-
Auchus RJ, Rainey WE. Adrenarche - physiology, biochemistry and human disease. Clin Endocrinol (Oxf) 2004;60:288-296.
-
(2004)
Clin Endocrinol (Oxf)
, vol.60
, pp. 288-296
-
-
Auchus, R.J.1
Rainey, W.E.2
-
10
-
-
0028941191
-
Exaggerated adrenarche' in children presenting with premature adrenarche
-
Likitmaskul S, Cowell CT, Donaghue K, Kreutzmann DJ, Howard NJ, Blades B, Silink M. 'Exaggerated adrenarche' in children presenting with premature adrenarche. Clin Endocrinol (Oxf) 1995;42:265-272.
-
(1995)
Clin Endocrinol (Oxf)
, vol.42
, pp. 265-272
-
-
Likitmaskul, S.1
Cowell, C.T.2
Donaghue, K.3
Kreutzmann, D.J.4
Howard, N.J.5
Blades, B.6
Silink, M.7
-
11
-
-
84995870955
-
Isolated precocious pubarche: An approach
-
Balducci R, Boscherini B, Mangiantini A, Morellini M, Toscano V. Isolated precocious pubarche: an approach. J Clin Endocrinol Metab 1994;79:582-589.
-
(1994)
J Clin Endocrinol Metab
, vol.79
, pp. 582-589
-
-
Balducci, R.1
Boscherini, B.2
Mangiantini, A.3
Morellini, M.4
Toscano, V.5
-
12
-
-
0026551026
-
The role of adrenocorticotropin testing in evaluating girls with premature adrenarche and hirsutism/oligomenorrhea
-
Hawkins LA, Chasalow FI, Blethen SL. The role of adrenocorticotropin testing in evaluating girls with premature adrenarche and hirsutism/ oligomenorrhea. J Clin Endocrinol Metab 1992;74:248-253.
-
(1992)
J Clin Endocrinol Metab
, vol.74
, pp. 248-253
-
-
Hawkins, L.A.1
Chasalow, F.I.2
Blethen, S.L.3
-
13
-
-
0022509951
-
Is heterozygosity for the steroid 21-hydroxylase deficiency responsible for hirsutism, premature pubarche, early puberty, and precocious puberty in children?
-
Knorr D, Bidlingmaier F, Holler W, Kuhnle U, Meiler B, Nachmann A. Is heterozygosity for the steroid 21-hydroxylase deficiency responsible for hirsutism, premature pubarche, early puberty, and precocious puberty in children? Acta Endocrinol Suppl (Copenh) 1986;279:284-289.
-
(1986)
Acta Endocrinol Suppl (Copenh)
, vol.279
, pp. 284-289
-
-
Knorr, D.1
Bidlingmaier, F.2
Holler, W.3
Kuhnle, U.4
Meiler, B.5
Nachmann, A.6
-
14
-
-
0033329303
-
High incidence of molecular defects of the CYP21 gene in patients with premature adrenarche
-
Dacou-Voutetakis C, Dracopoulou M. High incidence of molecular defects of the CYP21 gene in patients with premature adrenarche. J Clin Endocrinol Metab 1999;84: 1570-1574.
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 1570-1574
-
-
Dacou-Voutetakis, C.1
Dracopoulou, M.2
-
15
-
-
0036773532
-
Molecular defects of the CYP21 gene in Spanish girls with isolated precocious pubarche
-
Potau N, Rique S, Eduardo I, Marcos V, Ibanez L. Molecular defects of the CYP21 gene in Spanish girls with isolated precocious pubarche. Eur J Endocrinol 2002;147:485-488.
-
(2002)
Eur J Endocrinol
, vol.147
, pp. 485-488
-
-
Potau, N.1
Rique, S.2
Eduardo, I.3
Marcos, V.4
Ibanez, L.5
-
16
-
-
0035064234
-
Candidate gene analysis in premature pubarche and adolescent hyperandrogenism
-
Witchel SF, Smith R, Tomboc M, Aston CE. Candidate gene analysis in premature pubarche and adolescent hyperandrogenism. Fertil Steril 2001;75:724-730.
-
(2001)
Fertil Steril
, vol.75
, pp. 724-730
-
-
Witchel, S.F.1
Smith, R.2
Tomboc, M.3
Aston, C.E.4
-
17
-
-
33646841046
-
Hyperandrogenism in carriers of CYP21 mutations: The role of genotype
-
Admoni O, Israel S, Lavi I, Gur M, Tenenbaum-Rakover Y. Hyperandrogenism in carriers of CYP21 mutations: the role of genotype. Clin Endocrinol (Oxf) 2006;64:645-651.
-
(2006)
Clin Endocrinol (Oxf)
, vol.64
, pp. 645-651
-
-
Admoni, O.1
Israel, S.2
Lavi, I.3
Gur, M.4
Tenenbaum-Rakover, Y.5
-
18
-
-
27544493052
-
Structural and functional analysis of a novel mutation of CYP21B in a heterozygote carrier of 21- Hydroxylase deficiency
-
Bojunga J, Welsch C, Antes I, Albrecht M, Lengauer T, Zeuzem S. Structural and functional analysis of a novel mutation of CYP21B in a heterozygote carrier of 21- hydroxylase deficiency. Hum Genet 2005;117:558-564.
-
(2005)
Hum Genet
, vol.117
, pp. 558-564
-
-
Bojunga, J.1
Welsch, C.2
Antes, I.3
Albrecht, M.4
Lengauer, T.5
Zeuzem, S.6
-
19
-
-
0031031621
-
Carriers of 21- Hydroxylase deficiency are not at increased risk for hyperandrogenism
-
Knochenhauer ES, Cortet-Rudelli C, Cunnigham RD, Conway- Myers BA, Dewailly D, Azziz R. Carriers of 21- hydroxylase deficiency are not at increased risk for hyperandrogenism. J Clin Endocrinol Metab 1997;82:479-485.
-
(1997)
J Clin Endocrinol Metab
, vol.82
, pp. 479-485
-
-
Knochenhauer, E.S.1
Cortet-Rudelli, C.2
Cunnigham, R.D.3
Conway- Myers, B.A.4
Dewailly, D.5
Azziz, R.6
-
20
-
-
8844257307
-
Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
-
Forest MG. Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Hum Reprod Update 2004;10:469-485.
-
(2004)
Hum Reprod Update
, vol.10
, pp. 469-485
-
-
Forest, M.G.1
-
21
-
-
33751529747
-
Extensive clinical experience: Nonclassical 21- Hydroxylase deficiency
-
New MI. Extensive clinical experience: nonclassical 21- hydroxylase deficiency. J Clin Endocrinol Metab 2006;91: 4205-4214.
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 4205-4214
-
-
New, M.I.1
-
23
-
-
1542292106
-
Normative data for the response of plasma 21- Deoxycortisol to ACTH stimulation: Efficient screening test for heterozygocy of 21-hydroxylase (21-OH) deficiency in the general population
-
Forest MG, Pugeat M, Monneret MP, Rigaud C, David M, Morel Y. Normative data for the response of plasma 21- deoxycortisol to ACTH stimulation: efficient screening test for heterozygocy of 21-hydroxylase (21-OH) deficiency in the general population. Horm Res 1994;41:110.
-
(1994)
Horm Res
, vol.41
, pp. 110
-
-
Forest, M.G.1
Pugeat, M.2
Monneret, M.P.3
Rigaud, C.4
David, M.5
Morel, Y.6
-
24
-
-
43249117882
-
P.H62L, a rare mutation of the CYP21 gene identified in two forms of 21-hydroxylase deficiency
-
Menassa R, Tardy V, Despert F, Bouvattier-Morel C, Brossier JP, Cartigny M, Morel Y. p.H62L, a rare mutation of the CYP21 gene identified in two forms of 21-hydroxylase deficiency. J Clin Endocrinol Metab 2008;93:1901-1908.
-
(2008)
J Clin Endocrinol Metab
, vol.93
, pp. 1901-1908
-
-
Menassa, R.1
Tardy, V.2
Despert, F.3
Bouvattier-Morel, C.4
Brossier, J.P.5
Cartigny, M.6
Morel, Y.7
-
25
-
-
66149127172
-
Detection of heterozygotes for 21-hydroxylase deficiency: Validation of 21-deoxycortisol after ACTH test by sequencing of the entire CYP21 gene
-
Tardy V, Forest MG, De Rougemont A, Morel Y. Detection of heterozygotes for 21-hydroxylase deficiency: validation of 21-deoxycortisol after ACTH test by sequencing of the entire CYP21 gene. Horm Res 2005;64:41.
-
(2005)
Horm Res
, vol.64
, pp. 41
-
-
Tardy, V.1
Forest, M.G.2
De Rougemont, A.3
Morel, Y.4
-
26
-
-
0035144892
-
Phenotype-genotype correlation in 56 women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency
-
Deneux C, Tardy V, Dib A, Mornet E, Billaud L, Charron D, Morel Y, Kuttenn F. Phenotype-genotype correlation in 56 women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab 2001;86:207-213.
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 207-213
-
-
Deneux, C.1
Tardy, V.2
Dib, A.3
Mornet, E.4
Billaud, L.5
Charron, D.6
Morel, Y.7
Kuttenn, F.8
-
27
-
-
0006316403
-
Nonclassical forms of 21- Hydroxylase deficiency revisited by molecular biology
-
Tardy V, Carel JC, Forest MG, NicolinoM, Tauber M, Raux- Demay MC, David A, Morel Y. Nonclassical forms of 21- hydroxylase deficiency revisited by molecular biology. Horm Res 1996;46:9.
-
(1996)
Horm Res
, vol.46
, pp. 9
-
-
Tardy, V.1
Carel, J.C.2
Forest, M.G.3
Nicolinom Tauber, M.4
Raux- Demay, M.C.5
David, A.6
Morel, Y.7
-
28
-
-
0027062958
-
Adrenal steroidogenic defects in children with precocious pubarche
-
Del Balzo P, Borrelli P, Cambiaso P, Danielli E, Cappa M. Adrenal steroidogenic defects in children with precocious pubarche. Horm Res 1992;37:180-184.
-
(1992)
Horm Res
, vol.37
, pp. 180-184
-
-
Del Balzo, P.1
Borrelli, P.2
Cambiaso, P.3
Danielli, E.4
Cappa, M.5
-
29
-
-
0029145321
-
Usefulness of an ACTH test in the diagnosis of nonclassical 21-hydroxylase deficiency among children presenting with premature pubarche
-
Ibanez L, Bonnin MR, Zampolli M, Prat N, Alia PJ, Navarro MA. Usefulness of an ACTH test in the diagnosis of nonclassical 21-hydroxylase deficiency among children presenting with premature pubarche. Horm Res 1995;44:51-56.
-
(1995)
Horm Res
, vol.44
, pp. 51-56
-
-
Ibanez, L.1
Bonnin, M.R.2
Zampolli, M.3
Prat, N.4
Alia, P.J.5
Navarro, M.A.6
-
30
-
-
0026509878
-
Premature pubarche: Etiological heterogeneity
-
Siegel SF, Finegold DN, Urban MD, McVie R, Lee PA. Premature pubarche: etiological heterogeneity. J Clin Endocrinol Metab 1992;74:239-247.
-
(1992)
J Clin Endocrinol Metab
, vol.74
, pp. 239-247
-
-
Siegel, S.F.1
Finegold, D.N.2
Urban, M.D.3
McVie, R.4
Lee, P.A.5
-
32
-
-
0023920360
-
A segregation and linkage study of classical and nonclassical 21- hydroxylase deficiency
-
Sherman SL, Aston CE, Morton NE, Speiser PW, New MI. A segregation and linkage study of classical and nonclassical 21- hydroxylase deficiency. Am J Hum Genet 1988;42:830-838.
-
(1988)
Am J Hum Genet
, vol.42
, pp. 830-838
-
-
Sherman, S.L.1
Aston, C.E.2
Morton, N.E.3
Speiser, P.W.4
New, M.I.5
-
33
-
-
0022219639
-
High frequency of nonclassical steroid 21-hydroxylase deficiency
-
Speiser PW, Dupont B, Rubinstein P, Piazza A, Kastelan A, New MI. High frequency of nonclassical steroid 21-hydroxylase deficiency. Am J Hum Genet 1985;37:650-667.
-
(1985)
Am J Hum Genet
, vol.37
, pp. 650-667
-
-
Speiser, P.W.1
Dupont, B.2
Rubinstein, P.3
Piazza, A.4
Kastelan, A.5
New, M.I.6
-
34
-
-
0025300180
-
Prevalence of nonclassical steroid 21-hydroxylase deficiency based on a morning salivary 17-hydroxyprogesterone screening test: A small sample study
-
Zerah M, Ueshiba H, Wood E, Speiser PW, Crawford C, McDonald T, Pareira J, Gruen D, New MI. Prevalence of nonclassical steroid 21-hydroxylase deficiency based on a morning salivary 17-hydroxyprogesterone screening test: a small sample study. J Clin Endocrinol Metab 1990;70:1662-1667.
-
(1990)
J Clin Endocrinol Metab
, vol.70
, pp. 1662-1667
-
-
Zerah, M.1
Ueshiba, H.2
Wood, E.3
Speiser, P.W.4
Crawford, C.5
McDonald, T.6
Pareira, J.7
Gruen, D.8
New, M.I.9
-
35
-
-
0031440220
-
Exhaustive screening of the 21-hydroxylase gene in a population of hyperandrogenic women
-
Blanche H, Vexiau P, Clauin S, Le Gall I, Fiet J, Mornet E, Dausset J, Bellanne-Chantelot C. Exhaustive screening of the 21-hydroxylase gene in a population of hyperandrogenic women. Hum Genet 1997;101:56-60.
-
(1997)
Hum Genet
, vol.101
, pp. 56-60
-
-
Blanche, H.1
Vexiau, P.2
Clauin, S.3
Le Gall, I.4
Fiet, J.5
Mornet, E.6
Dausset, J.7
Bellanne-Chantelot, C.8
-
36
-
-
0031405108
-
Hyperandrogenism and manifesting heterozygotes for 21- Hydroxylase deficiency
-
Witchel SF, Lee PA, Suda-Hartman M, Hoffman EP. Hyperandrogenism and manifesting heterozygotes for 21- hydroxylase deficiency. Biochem Mol Med 1997;62:151-158.
-
(1997)
Biochem Mol Med
, vol.62
, pp. 151-158
-
-
Witchel, S.F.1
Lee, P.A.2
Suda-Hartman, M.3
Hoffman, E.P.4
-
37
-
-
0033214141
-
The presence of the 21-hydroxylase deficiency carrier status in hirsute women: Phenotype-genotype correlations
-
Escobar-Morreale HF, San Millan JL, Smith RR, Sancho J, Witchel SF. The presence of the 21-hydroxylase deficiency carrier status in hirsute women: phenotype-genotype correlations. Fertil Steril 1999;72:629-638.
-
(1999)
Fertil Steril
, vol.72
, pp. 629-638
-
-
Escobar-Morreale, H.F.1
San Millan, J.L.2
Smith, R.R.3
Sancho, J.4
Witchel, S.F.5
-
38
-
-
0031913676
-
Carrier status for steroid 21-hydroxylase deficiency is only one factor in the variable phenotype of acne
-
Ostlere LS, Rumsby G, Holownia P, Jacobs HS, Rustin MH, Honour JW. Carrier status for steroid 21-hydroxylase deficiency is only one factor in the variable phenotype of acne. Clin Endocrinol (Oxf) 1998;48:209-215.
-
(1998)
Clin Endocrinol (Oxf)
, vol.48
, pp. 209-215
-
-
Ostlere, L.S.1
Rumsby, G.2
Holownia, P.3
Jacobs, H.S.4
Rustin, M.H.5
Honour, J.W.6
-
39
-
-
0036072224
-
Novel mutations in CYP21 detected in individuals with hyperandrogenism
-
Lajic S, Clauin S, Robins T, Vexiau P, Blanche H, Bellanne-Chantelot C, Wedell A. Novel mutations in CYP21 detected in individuals with hyperandrogenism. J Clin Endocrinol Metab 2002;87:2824-2829.
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 2824-2829
-
-
Lajic, S.1
Clauin, S.2
Robins, T.3
Vexiau, P.4
Blanche, H.5
Bellanne-Chantelot, C.6
Wedell, A.7
-
40
-
-
0036174138
-
Variable ACTHstimulated 17-hydroxyprogesterone values in 21-hydroxylase deficiency carriers are not related to the different CYP21 gene mutations
-
Bachega TA, Brenlha EM, Billerbeck AE, Marcondes JA, Madureira G, Arnhold IJ, Mendonca BB. Variable ACTHstimulated 17-hydroxyprogesterone values in 21-hydroxylase deficiency carriers are not related to the different CYP21 gene mutations. J Clin Endocrinol Metab 2002;87:786-790.
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 786-790
-
-
Bachega, T.A.1
Brenlha, E.M.2
Billerbeck, A.E.3
Marcondes, J.A.4
Madureira, G.5
Arnhold, I.J.6
Mendonca, B.B.7
|