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Vol. 51. Núm. 6.
Páginas 359-373 (Junio 2004)
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Vol. 51. Núm. 6.
Páginas 359-373 (Junio 2004)
DOI: 10.1016/S1575-0922(04)74628-8
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Hiperplasia suprarrenal congénita: diagnóstico, tratamiento y evolución a largo plazo
Congenital Adrenal Hyperplasia: Diagnosis, Treatment And Long-Term Outcome
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J.I. Labarta
Autor para correspondencia
jilabarta@salud.aragob.es

Correspondencia: Dr. J.I. Labarta Aizpún. Unidad de Endocrinología. Hospital Infantil Miguel Servet. P.o Isabel La Católica, 1-3. 50009 Zaragoza. España.
, E. Bello, A. Ferrández, E. Mayayo
Unidad de Endocrinología. Hospital Infantil Universitario Miguel Servet. Zaragoza. España
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La hiperplasia suprarrenal congénita incluye los trastornos hereditarios de la síntesis suprarrenal del cortisol. Se conoce 5 formas clínicas, el déficit de 21 hidroxilasa es la forma más frecuente. El déficit de 21 hidroxilasa se puede categorizar clínicamente en formas clásicas (pérdida salina y virilizante simple) y formas no clásicas (sintomáticas y asintomáticas/crípticas). El presente trabajo revisa los aspectos diagnósticos y terapéuticos de la hiperplasia suprarrenal congénita, con especial referencia al déficit de 21 hidroxilasa y su evolución a largo plazo. Durante los últimos 30 años se han producido avances importantes, tanto diagnósticos como terapéuticos, que han permitido disminuir notablemente la morbimortalidad y posibilitar que los pacientes alcancen la edad adulta. El tratamiento persigue disminuir la secreción de corticotropina (ACTH) y el hiperandrogenismo suprarrenal subyacente, y reemplazar lo más fisiológicamente posible el déficit de glucocorticoides y mineralocorticoides. El tratamiento clínico con frecuencia se ve complicado por fases de hiperandrogenismo inadecuadamente controlado y/o hipercortisolismo iatrogénico. En la evolución a largo plazo, estos pacientes pueden presentar una serie de complicaciones entre las que se incluyen baja talla, obesidad, disminución de la densidad mineral ósea, disfunción gonadal, infertilidad y disfunción psicosexual en las mujeres. En la actualidad existen nuevas pautas terapéuticas en fase de investigación entre las que se incluyen el uso de antiandrógenos, inhibidores de la síntesis de estrógenos y la adrenalectomía.

Palabras clave:
Hiperplasia suprarrenal congénita
Déficit de 21 hidroxilasa
CYP21

Congenital adrenal hyperplasia is a term that includes all hereditary disorders of adrenal cortisol synthesis. There are 5 clinical forms, of which 21 hydroxylase deficiency is the most frequent. This deficiency can be clinically classified into classical forms (salt-losing and simple-virilizing) and nonclassical forms (symptomatic and asymptomatic/cryptic). The present article reviews the diagnostic and therapeutic features of congenital adrenal hyperplasia with special emphasis on 21-hydroxylase deficiency and its long-term outcome. In the last 30 years, significant advances have been achieved both in diagnosis and treatment, which have notably decreased morbidity and mortality and have enabled patients to reach adulthood. Treatment aims to decrease adrenocorticotropic hormone secretion and underlying adrenal hyperandrogenism and to correct the glucocorticoid and mineralocorticoid deficiency as physiologically as possible. Clinical management is frequently complicated by poorly controlled hyperandrogenism and/or iatrogenic hypercortisolism. Over the long-term course of the disease, these patients can develop a series of complications that include short stature, obesity, reduced bone mineral density, gonadal dysfunction, infertility and psychosexual dysfunction in women. New therapeutic options are currently under investigation, including the use of antiandrogens, estrogen synthesis inhibitors, and adrenalectomy.

Key words:
Congenital adrenal hyperplasia
21-hydroxylase deficiency
CYP21
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Biblografía
[1.]
W.L. Miller.
Congenital adrenal hyperplasias.
Endocrinol Metab Clin North Am, 20 (1991), pp. 721-749
[2.]
L. Audí Parera.
Biosíntesis hormonal. En: Corteza Suparrrenal.
4.° Curso de Postgrado de la Sociedad Española de Endocrinología Pediátrica, (1999), pp. 3-22
[3.]
M.G. Forest.
Hiperplasia suprarrenal congenita.
Tratado de endocrinologia pediatrica, pp. 901-935
[4.]
S. Pang.
Congenital adrenal hyperplasia.
Endocrinol Metab Clin North Am, 26 (1997), pp. 853-891
[5.]
P.C. White, P.W. Speiser.
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Endocr Rev, 21 (2000), pp. 245-291
[6.]
P.W. Speiser.
Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.
Endocrinol Metab Clin North Am, 30 (2001), pp. 31-60
[7.]
G.B. Cutler, L. Laue.
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
N Engl J Med, 323 (1990), pp. 1806-1813
[8.]
M.I. New.
Steroid 21-hydroxylase deficiency (congenital adrenal hyperplasia).
Am J Med, 98 (1995), pp. 2-8
[9.]
P.W. Speiser, B. Dupont, P. Rubinstein, A. Piazza, A. Kastelan, M.I. New.
High frequency of nonclassical steroid 21-hydroxylase deficiency.
Am J Hum Genet, 37 (1985), pp. 650-667
[10.]
R. Azziz, D. Dewailly, D. Owerbach.
Clinical review 56. Nonclassical adrenal hiperplasia: current concepts.
J Clin Endocrinol Metab, 78 (1994), pp. 810-815
[11.]
V. Albiach Mesado.
Hiperplasia suprarrenal congenita. Clinica. En: Corteza Suparrrenal.
4.° Curso de Postgrado de la Sociedad Espanola de Endocrinologia Pediatrica,, (1999), pp. 73-92
[12.]
I. Hughes.
Congenital adrenal hyperplasia. A continuum of disorders.
[13.]
M.A. Molina Rodriguez.
Hiperplasia suprarrenal congenita. Fisiopatologia. En: Corteza Suparrrenal.
4.° Curso de Postgrado de la Sociedad Espanola de Endocrinologia Pediatrica, (1999), pp. 31-41
[14.]
M.I. New, F. Lorenzen, A.J. Lerner, B. Kohn, S.E. Oberfield, M.S. Pollack, et al.
Genotyping steroid 21-hydroxylase deficiency: hormonal reference data.
J Clin Endocrinol Metab, 57 (1983), pp. 320-326
[15.]
L. Ibanez, M.R. Bonnin, M. Zampolli, N. Prat, P.J. Alia, M.A. Navarro.
Usefulness of an ACTH test in the diagnosis of nonclassical 21-hydroxylase deficiency among children presenting with premature pubarche.
Horm Res, 44 (1995), pp. 51-56
[16.]
N. Potau.
Exploracion hormonal de la hiperplasia suprarrenal congenita. En: Corteza Suparrrenal.
4.° Curso de Postgrado de la Sociedad Espanola de Endocrinologia Pediatrica, (1999), pp. 23-29
[17.]
P.C. White, K.M. Curnow, L. Pascoe.
Disorders of steroid 11βÀ hydroxylase isoenzymes.
Endocr Rev, 15 (1994), pp. 421-438
[18.]
P.C. White.
Steroid 11βÀ-hydroxylase deficiency and related disorders.
Endocrinol Metab Clin North Am, 30 (2001), pp. 61-80
[19.]
M. Peter, J.M. Dubuis, W.G. Sippell.
Disorders of the aldosterone synthase and steroid 11βÀ-hydroxylase deficiencies.
Horm Res, 51 (1999), pp. 211-222
[20.]
M. Zachmann, D. Tassinari, A. Prader.
Clinical and biochemical variability of congenital adrenal hyperplasia due to 11βÀ-hydroxylase deficiency: a study of 25 patients.
J Clin Endocrinol Metab, 56 (1983), pp. 222-229
[21.]
S. Pang.
Congenital adrenal hyperplasia owing to 3βÀ-hydroysteroid dehydrogenase deficiency.
Endocrinol Clin North Am, 30 (2001), pp. 81-101
[22.]
M. Zachmann.
Congenital adrenal hyperplasia due to 3βÀ-hidroxysteroid dehydrogenase deficiency.
Eur J Pediatr, 155 (1996), pp. 259-261
[23.]
T. Yanase, E.R. Simpson, M.R. Waterman.
17βÀ-hydroxylase/ 17,20-lyase deficiency: from clinical investigation to molecular definition.
Endocr Rev, 12 (1991), pp. 91-108
[24.]
W.L. Miller.
Congenital lipoid adrenal hyperplasia: the human gene knockout for the steroidogenic acute regulatory protein.
J Mol Endocrinol, 19 (1997), pp. 227-240
[25.]
H.S. Bose, T. Sugawara, I.I.I. Straus JF, W.L. Miller.
The pathophysiology and genetics of congenital lipoid adrenal hyperplasia.
N Engl J Med, 335 (1996), pp. 1870-1878
[26.]
N. Matsuo, S. Tsuzaki, M. Anzo, T. Ogata, S. Sato.
The phenotypic definition con congenital lipoid adrenal hyperplasia: analysis of the 67 Japanese patients [abstract].
Horm Res, (1994), pp. 106
[27.]
H.W. Yoo, G.H. Kim.
Molecular and clinical characterization of korean patients with congenital lipoid adrenal hyperplasia.
J Ped Endocrinol Metab, 11 (1998), pp. 707-711
[28.]
W.L. Miller.
Genetics, diagnosis and management of 21-hydroxylase deficiency.
J Clin Endocrinol Metab, 78 (1994), pp. 241-246
[29.]
W.L. Miller, L.S. Levine.
Molecular and clinical advances in congenital adrenal hyperplasia.
J Pediatr, 111 (1987), pp. 1-13
[30.]
B. Dupont, S.E. Oberfield, E.M. Smithwick.
Close genetic linkage between HLA and congenital adrenal hyperplasia (21-hydroxylase deficiency).
Lancet, 2 (1977), pp. 1309
[31.]
L.S. Levine, M. Zachmann, M.I. New.
Genetic mapping of the 21-hydroxylase deficiency gene within the HLA linkage group.
N Engl J Med, 299 (1978), pp. 911
[32.]
P.C. White, D. Grossberger, B.J. Onufer, D.D. Chaplin, M.I. New, B. Dupont, et al.
Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man.
Proc Natl Acad Sci USA, 82 (1985), pp. 1089-1093
[33.]
Y. Morel, W.L. Miller.
Clinical and molecular genetics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adv Hum Gen, 20 (1991), pp. 1-68
[34.]
B. Ezquieta.
Hiperplasia suprarrenal congenita: genetica. En: Corteza Suprarrenal.
4.° Curso de Postgrado de la Sociedad Espanola de Endocrinologia Pediatrica, (1999), pp. 43-70
[35.]
A. Wedell, A. Thilen, E.M. Ritzen, B. Stengler, H. Luthman.
Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation.
J Clin Endocrinol Metab, 78 (1994), pp. 1145-1152
[36.]
A. Wedell.
An update on the molecular genetics of congenital adrenal hyperplasia: diagnostic and therapeutic aspects.
J Ped Endocrinol Metab, 11 (1998), pp. 581-589
[37.]
B. Ezquieta, A. Oliver, R. Gracia, P.G. Gancedo.
Analysis of steroid 21-hydroxylase gene in the Spanish population.
Hum Genet, 96 (1995), pp. 198-204
[38.]
B. Ezquieta, J.M. Varela, C. Jariego, A. Oliver, R. Gracia.
Nonisotopic detection of point mutations in the CYP21B gene in 21-hydroxylase deficiency.
Clin Chem, 42 (1996), pp. 1108-1110
[39.]
B. Ezquieta, J.M. Varela, C. Jariego, A. Oliver, R. Gracia.
Nonisotopic detection of point mutations in the CYP21B gene in 21-hydroxylase deficiency.
Clin Chem, 42 (1996), pp. 1108-1110
[40.]
B. Ezquieta Zubicaray, E. Cueva Lopez, J.M. Varela Junquera, C. Jariego Fente.
Aportaciones del analisis molecular en la hiperplasia suprarrenal congenita.
Acta Pediatr Esp, 59 (2001), pp. 479-496
[41.]
A. Wedell, A. Thilen, E.M. Ritzen, B. Stengler, H. Luthman.
Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation.
J Clin Endocrinol Metab, 78 (1994), pp. 1145-1152
[42.]
J. Jaaskelainen, A. Levo, R. Voutilainen, J. Partanen.
Population-wide evaluation of disease manifestation in relation to molecular genotype in steroid 21-hydroxylase (CYP21) deficiency: good correlation in a well defined population.
J Clin Endocrinol Metab, 82 (1997), pp. 3293-3297
[43.]
P.W. Speiser, J. Dupont, D. Zhu, J. Serrat, M. Buegeleisen, M.T. Tusie Luna, et al.
Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
J Clin Invest, 90 (1992), pp. 584-595
[44.]
R.C. Wilson, A.B. Mercado, K.C. Cheng, M.I. New.
Steroid 21-hydroxylase deficiency: genotype may not predict phenotype.
J Clin Endocrinol Metab, 80 (1995), pp. 2322-2329
[45.]
Y. Nakagawa, M. Yamada, H. Ogawa, Y. Igarashi.
Missense mutation in CYP11B1 (CGA(Arg384)-GCA(Gly)) causes steroid 11βÀ-hydroxylase deficiency.
Eur J Endocrinol, 132 (1995), pp. 286-289
[46.]
Y. Naiki, T. Kawamoto, Y. Mitsuuchi, K. Miyahara, K. Toda, T. Orii, et al.
A nonsense mutation (TGG(Trp116) .TAG(stop)) in CYP11B1 causes steroid 11 βÀ-hydroxylase deficiency.
J Clin Endocrinol Metab, 77 (1993), pp. 1677-1682
[47.]
J.I. Mason.
The 3βÀ-hidroxysteroid dehydrogenase gene family of enzymes.
Trends Endocrinol Metab, 4 (1993), pp. 199-203
[48.]
M. Zerah, E. Rheaume, P. Mani.
No evidence of mutations in the genes for type I and type II 3s-hidroxysteroid dehydrogenase (3βÀ-HSD) in nonclassical 3s-HSD deficiency.
J Clin Endocrinol Metab, 79 (1994), pp. 1811-1817
[49.]
T. Yanase, E.R. Simpson, M.R. Waterman.
17βÀ-hydroxylase/ 17,20-lyase deficiency: from clinical investigation to molecular definition.
Endocr Rev, 12 (1991), pp. 91-108
[50.]
M. Kitamura, E. Buczko, M.L. Dufau.
Dissociation of hydroxylase and lyase activities by site-directed mutagenesis of the rat P45017βÀ.
Mol Endocrinol, 5 (1991), pp. 1373-1380
[51.]
A. Oliver Iguacel.
HIperplasia suprarrenal congenita. Tratamiento. En: Corteza Suparrrenal.
4.° Curso de Postgrado de la Sociedad Espanola de Endocrinologia Pediatrica, (1999), pp. 93-104
[52.]
A. Rodriguez Sanchez, J. Rodriguez Arnao, P. Dobon Westphal, C. Miguez Navarro, M.D. Rodriguez Arnao.
Hiperplasia suparrenal congenita por defecto de la 21-hidroxilasa.
Acta Pediatr Esp, 59 (2001), pp. 497-510
[53.]
P.W. Speiser.
Toward better treatment of congenital adrenal hyperplasia.
Clin Endocrinol, 51 (1999), pp. 273-274
[54.]
M. Kleerekoper, R. Schiebinger, J.P. Gutai.
Steroid therapy for adrenal disorders. Getting the dose right [editorial].
J Clin Endocrinol Metab, 82 (1997), pp. 3923-3925
[55.]
Joint ESPE/LWPES CAH working group.
Consensus statement on 21 hydroxylase deficiency from European Society for Pediatric Endocrinology and the Lawson Wilkins Pediatric Endocrine Society.
Horm Res, 58 (2002), pp. 188-195
[56.]
J. Winterer, G.P. Chrousos, D.L. Loriaux, G.B. Cutler.
Effects of hydrocortisone dose schedule on adrenal steroid secretion in congenital adrenal hyperplasia.
J Pediatr, 106 (1985), pp. 137-142
[57.]
R. Sandrini, N. Jospe, C.J. Migeon.
Temporal and individual variations in the dose of glucocorticoid used for the treatment of salt-losing congenital virilizing adrenal hyperplasia due to 21-hydroxylase deficiency.
Acta Paediatr, (1993), pp. 56-60
[58.]
J. Jaaskelainen, R. Voutilainen.
Growth of patients with 21-hydroxylase deficiency: an analysis of the factors influencing adult height.
[59.]
A.C. Yu, D.B. Grant.
Adult height in women with early-treated congenital adrenal hyperplasia (21-hydroxylase type): relation to body mass index in earlier childhood.
Acta Paediatr, 84 (1995), pp. 899-903
[60.]
A. Rosler, L.S. Levine, B. Schneider, M. Novogroder, M.I. New.
The interrelationship of sodium balance, plasma renin activity and ACTH in congenital adrenal hyperplasia.
J Clin Endocrinol Metab, 45 (1997), pp. 500-512
[61.]
E.G. Biglieri, C.E. Kater.
Mineralocorticoids in congenital adrenal hyperplasia.
J Steroid Biochem Mol Biol, 40 (1991), pp. 493-499
[62.]
L.A. Lopes, J.M. Dubuis, M.B. Vallotton, P.C. Sizonenko.
Should we monitor more closely the dosage of 9β¿-fluorohydrocortisone in salt-losing congenital adrenal hyperplasia?.
J Pediatr Endocrinol Metab, 11 (1998), pp. 733-737
[63.]
A. Oliver, B. Ezquieta, M. Gussinye.
Hiperplasia suprarrenal congenita.
Tratado de endocrinologia pediatrica y de la adolescencia. 2.a ed, pp. 995-1042
[64.]
N.K. Alizai, D.F.M. Thomas, R.J. Lilford, G.G. Batchelor, N. Johnson.
Feminizing genitoplasty for congenital adrenal hyperplasia: what happens at puberty?.
J Urol, 161 (1999), pp. 1588-1591
[65.]
P.K. Donahoe, M.L. Gustafson.
Early one-stage surgical reconstruction of the exremely high vagina in patients with congenital adrenal hyperplasia.
J Pediatr Surg, 29 (1994), pp. 352-358
[66.]
E. Molina, J. Vazquez.
Genitales ambiguos. Tratamiento quirurgico.
Acta Pediatr Esp, 59 (2001), pp. 511-515
[67.]
J.J. Schnitzer, P.K. Donahoe.
Surgical treatment of congenital adrenal hyperplasia.
Endocrinol Metab Clin North Am, 30 (2001), pp. 137-154
[68.]
D.P. Merke, G.B. Cutler.
New ideas for medical treatment of congenital adrenal hyperplasia.
Endocrinol Metab Clin North Am, 30 (2001), pp. 121-136
[69.]
L. Laue, D.P. Merke, J.V. Jones, K.M. Barnes, S. Hill, G.B. Cutler Jr..
A preliminary study of flutamide, testolactone and reduced hydrocortisone dose in the treatment of congenital adrenal hyperplasia.
J Clin Endocrinol Metab, 81 (1996), pp. 3535-3539
[70.]
D.P. Merke, M.F. Keil, J.V. Jones, J. Fields, S. Hill, G.B. Cutler Jr..
Flutamide, testolactone, and reduced hydrocortisone dose maintain normal growth velocity and bone maturation despite elevated androgen levels in children with congenital adrenal hyperplasia.
J Clin Endocrinol Metab, 85 (2000), pp. 1114-1120
[71.]
I. Irony, G.B. Cutler Jr..
Effect of carbenoxolone on the plasma renin activity and hypothalamic-pituitary-adrenal axis in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Clin Endocrinol, 51 (1999), pp. 285-291
[72.]
B.R. Walker, P.M. Stewart.
Carbenoxolone effects in congenital adrenal hyperplasia [letter].
Clin Endocrinol (Oxf), 52 (2000), pp. 246-248
[73.]
J.J. Van Wyk, D.F. Gunther, E.M. Ritzen, A. Wedell, G.B. Cutler Jr, C.J. Migeon, et al.
The use of adrenalectomy as a treatment for congenital adrenal hyperplasia.
J Clin Endocrinol Metab, 81 (1996), pp. 3180-3190
[74.]
M. Zachmann, B. Manella, B. Kempken, G. Knorr-Muerset, M. Atares, A. Prader.
Ovarian steroidogenesis in an adrenalectomized girl with 21-hydroxylase deficiency.
Clin Endocrinol (Oxf), 21 (1984), pp. 575-582
[75.]
D.F. Gunther, T.P. Bukowski, E.M. Ritzen, A. Wedell, J.J. Van Wik.
Prophylactic adrenalectomy of a three-year-old girl with congenital adrenal hyperplasia: pre-and postoperative studies.
J Clin Endocrinol Metab, 82 (1997), pp. 3324-3327
[76.]
J. Bruining, A.H. Bootsma, J.W. Koper, J. Bonjer, F. De Jong, S.W. Lamberts.
Fertility and body composition after laparoscopic bilateral adrenalectomy in a 30-year old female with congenital adrenal hyperplasia.
J Clin Endocrinol Metab, 86 (2001), pp. 482-484
[77.]
G.A. Gmyrek, M.I. New, R. Sosa, D.P. Poppas.
Bilateral laparoscopic adrenalectomy as a treatment for classic congenital adrenal hyperplasia attributable to 21-hydroxylase deficiency (abstract).
Pediatrics, 109 (2002), pp. 301
[78.]
S.A. Warinner, D. Zimmerman, G.B. Thompson, C.S. Grant.
Study of three patients with congenital adrenal hyperplasia treated by bilateral adrenalectomy.
World J Surg, 24 (2000), pp. 1347-1352
[79.]
L.S. Levine, S. Pang.
Prenatal diagnosis and treatment of congenital adrenal hyperplasia.
J Pediatr Endocrinol Metab, 7 (1994), pp. 193-200
[80.]
M. David, M.G. Forest.
Prenatal treatment of congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency.
J Pediatr, 105 (1984), pp. 799-803
[81.]
E.M. Ritzen.
Prenatal treatment of congenital adrenal hyperplasia: a commentary.
Trends Endocrinol Metab, 9 (1998), pp. 293-295
[82.]
M. New.
Prenatal treatment of congenital adrenal hyperplasia: the United States experience.
Endocrinol Metab Clin North Am, 30 (2001), pp. 1-14
[83.]
W.L. Miller.
Dexamethasone treatment of congenital adrenal hyperplasia in utero: an experimental therapy of unproven safety.
J Urol, 162 (1999), pp. 537-540
[84.]
B.I. Cerame, R.S. Newfield, L. Pascoe, K.M. Curnow, S. Nimkarn, T.F. Roe, et al.
Prenatal diagnosis and treatment of 11βÀ-hydroxylase deficiency congenital adrenal hyperplasia resulting in normal female genitalia.
J Clin Endocrinol Metab, 84 (1999), pp. 3129-3134
[85.]
I. Hughes, G.F. Read.
Simultaneous plasma and saliva steroid mesasurements as an index of control in congenital adrenal hyperplasia (CAH). A longitudinal study.
Horm Res, 16 (1982), pp. 142-150
[86.]
J. Young, B. Couzinet, M. Pholsena, K. Nahoul, F. Labrie, G. Schaison.
Plasma 3βÀ hydroxysteroids in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
J Clin Endocrinol Metab, 78 (1994), pp. 299-304
[87.]
V.L. Brunelli, G. Chiumello, M. David, M.G. Forest.
Adrenarche does not occur in treated patients with congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency.
Clin Endocrinol (Oxf), 42 (1995), pp. 461-466
[88.]
P.A. Lee, M.D. Urban, J.P. Gutai, C.J. Migeon.
Plasma progesterone, 17 hydroxyprogesterone, androstendione and testosterone in prepubertal, pubertal and adult subjects with congenital adrenal hyperplasia as indicators of adrenal supression.
Horm Res, 13 (1980), pp. 347-357
[89.]
J.M. Horner, R. Hintz, J.A. Luetscher.
The role of renin and angiotensin in salt-losing, 21-hydroxylase-deficient congenital adrenal hyperplasia.
J Clin Endocrinol Metab, 48 (1979), pp. 776-783
[90.]
D.R. Pincus, C.J. Kelnar, A.M. Wallace.
17-hydroxyprogesterone rhythms amd growth velocity in congenital adrenal hyperplasia.
J Pediatr Child Health, 29 (1993), pp. 302-304
[91.]
S. Appan, P.C. Hindmarsh, C.G.D. Brook.
Monitoring treatment in congenital adrenal hyperplasia.
Arch Dis Child, 64 (1989), pp. 1235-1239
[92.]
M.I. New, J.M. Gertner, P.W. Speiser, P. Del Balzo.
Growth and final height in classical and nonclassical 21-hydroxylase deficiency.
Acta Paediatr Jpn, 30 (1988), pp. 79-88
[93.]
M.C. Young, J. Ribeiro, I.A. Hughes.
Growth and body proportions in congenital adrenal hyperplasia.
Arch Dis Child, 64 (1989), pp. 1554-1558
[94.]
M. David, M. Sempe, M. Blanc, M. Nicolino, M.G. Forest, Y. Morel.
Taille definitive chez 69 sujets atteints dšfhyperplasie congenitale des surrenales par deficit en 21-hydroxylase.
Arch Pediatr, 1 (1994), pp. 363-367
[95.]
Y.J. Lim, J.A. Batch, G.L. Warne.
Adrenal 21-hydroxylase deficiency in childhood: 25 yearsšfexperience.
J Paediatr Child Health, 31 (1995), pp. 222-227
[96.]
B.P. Hauffa, A. Winter, H. Stolecke.
Treatment and disease effects on short-term growth and adult height in children and adolescents with 21-hydroxylase deficiency.
Klin Padiatr, 209 (1997), pp. 71-77
[97.]
M. Gussinye, N. Potau, E. Vicens Calvet, M. Albisu, D. Yeste, L. Ibanez, et al.
Talla adulta, patron de crecimiento y desarrollo puberal en pacientes con hiperplasia suprarrenal congenita, forma perdedora de sal.
Med Clin (Barc), 108 (1997), pp. 87-90
[98.]
M.D. Urban, P.A. Lee, C.J. Migeon.
Adult height and fertility in men with congenital virilizing adrenal hyperplasia.
N Engl J Med, 299 (1978), pp. 1392-1396
[99.]
J. Dimartino-Nardi, E. Stoner, A. OšfConnell, M.I. New.
The effect of treatment of final height in classical congenital adrenal hyperplasia (CAH).
Acta Endocrinol, 279 (1986), pp. 305-313
[100.]
A. Tanae, I. Hibi.
Unresolved problems in the treatment of congenital adrenal hyperplasia.
Acta Paediatr Jpn, 30 (1988), pp. 93-98
[101.]
D. Knorr.
Hinrichsen de Lienau SGC. Persistent obesity and short final height after corticoid overtreatment for congenital adrenal hyperplasia (CAH) in infancy.
Acta Paediatr Jpn, 30 (1988), pp. 89-92
[102.]
J. Jaaskelainen, R. Voutilainen.
Growth of patients with 21-hydroxylase deficiency: an analysis of the factors influencing adult height.
[103.]
I.N. Silva, C.E. Kater, C.F. Cunha, M.B. Viana.
Randomised controlled trial of growth effect of hydrocortisone in congenital adrenal hyperplasia.
Arch Dis Child, 77 (1997), pp. 214-218
[104.]
M.C. Young, I.A. Hughes.
Response to treatment of congenital adrenal hyperplasia in infancy.
Arch Dis Child, 65 (1990), pp. 441-444
[105.]
A.C.M. Yu, D.B. Grant.
Adult height in women with early treated congenital adrenal hyperplasia (21-hydroxylase type): relation to body mass index in earlier childhood.
Acta Paediatr, 84 (1995), pp. 899-903
[106.]
J.I. Labarta, E. Bello, M. Ruiz Echarri, C. Rueda, P. Martul, E. Mayayo, et al.
Estado en la edad adulta y propuesta de optimizacion terapeutica de la hiperplasia suprarrenal congenita.
An Pediatr, 58 (2003), pp. 12-34
[107.]
E.A. Eugster, L.A. DiMeglio, J.C. Wright, G.R. Freidenberg, R. Seshadri, O.H. Pescovitz.
Height outcome in congenital adrenal hyperplasia caused by 21 hydroxylase deficiency: a meta analysis.
J Pediatr, 138 (2001), pp. 26-32
[108.]
M. Gussinye, A. Carrascosa, M.P. Gussinye, N. Potau, E. Vicens Calvet, M.A. Albisu, et al.
Talla final en pacientes con hiperplasia suparrenal congenita.
Endocrinologia, 41 (1994), pp. 35-39
[109.]
G.W. Clayton.
Patterns of growth from birth to maturity in infants and children with congenital adrenal hyperplasia.
Acta Endocrinol, 279 (1986), pp. 295-304
[110.]
N. Weintrob, Z. Dickerman, E. Sprecher, A. Galatzer, A. Pertzelan.
Non-classical 21-hydroxylase deficiency in infancy and childhood: the effect of time of initiation of therapy on puberty and final height.
Eur J Endocrinol, 136 (1997), pp. 188-195
[111.]
O.H. Pescovitz, F. Comite, F. Cassorla, A.J. Dwyer, M.A. Poth, M.A. Sperling, et al.
True precocious puberty complicating congenital adrenal hyperplasia: treatment with a luteinizing hormone-releasing hormone analog.
J Clin Endocrinol Metab, 58 (1984), pp. 857-861
[112.]
J.B. Quintos, M.G. Vogiatzi, M.D. Harbison, M.I. New.
Growth hormone therapy alone or in combination with gonadotropinreleasing hormone analog therapy to improve the height deficit in children with congenital adrenal hyperplasia.
J Clin Endocrinol Metab, 86 (2001), pp. 1511-1517
[113.]
R.E. Cornean, P.C. Hindmarsh, C.G. Brook.
Obesity in 21-hydroxylase deficient patients.
Arch Dis Child, 78 (1998), pp. 261-263
[114.]
F.J. Cameron, B. Kaymakci, E.A. Byrt, P.R. Ebeling, G.L. Warne, J.D. Wark.
Bone mineral density and body composition in congenital adrenal hyperplasia.
J Clin Endocrinol Metab, 80 (1995), pp. 2238-2243
[115.]
D. Knorr.
Hinrichsen de Lienau SGC. Persistent obesity and short final height after corticoid overtreatment for congenital adrenal hyperplasia (CAH) in infancy.
Acta Paediatr Jpn, 30 (1988), pp. 89-92
[116.]
S. Mora, F. Saggion, G. Russo, G. Weber, A. Bellini, C. Prinster, et al.
Bone density in young patients with congenital adrenal hyperplasia.
Bone, 18 (1996), pp. 337-340
[117.]
M. Gussinye, A. Carrascosa, N. Potau, M. Enrubia, E. Vicens-Calvet, L. Ibanez, et al.
Bone mineral density in prepubertal and in adolescent and young adult patients with the salt-wasting form of congenital adrenal hyperplasia.
Pediatrics, 100 (1997), pp. 671-674
[118.]
P.W. Speiser, M.I. New, J. Gertner.
Increased bone mineral density in congenital adrenal hyperplasia (CAH).
Pediatr Res, 33 (1993), pp. S81
[119.]
J. Jaaskelainen, R. Voutilainen.
Bone mineral density in relation to glucocorticoid substitution therapy in adult patients with 21-hydroxylase deficiency.
Clin Endocrinol (Oxf), 45 (1996), pp. 707-713
[120.]
C.Y. Guo, A.P. Weetman, R. Eastell.
Bone turnover and bone mineral density in patients with congenital adrenal hyperplasia.
Clin Endocrinol (Oxf), 45 (1996), pp. 535-541
[121.]
C.J. Migeon, A.B. Wisniewski.
Congenital adrenal hyperplasia owing to 21 hydroxylase deficiency: growth, development and therapeutic considerations.
Endocrinol Metab Clin North Am, 30 (2001), pp. 193-206
[122.]
L. Ibanez Toda.
Hiperplasia suprarrenal congenita: fertilidad. En: Corteza suprarrenal.
4.° Curso de Postgrado de la Sociedad Espanola de Endocrinologia Pediatrica, (1999), pp. 117-125
[123.]
D.J. Holmes-Walker, G.S. Conway, J.W. Honour, G. Rumsby, H.S. Jacobs.
Menstrual disturbance and hypersecretion of progesterone in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Clin Endocrinol (Oxf), 43 (1995), pp. 291-296
[124.]
J.C. Lo, M.M. Grumbach.
Pregnancy outcomes in women with congenital virilizing adrenal hyperplasia.
Endocrinol Metab Clin North Am, 30 (2001), pp. 207-231
[125.]
N.A. Avila, T.S. Shawker, J.V. Jones, G.B. Cutler Jr, D.P. Merke.
Testicular adrenal rest tissue in congenital adrenal hyperplasia: serial sonographic and clinical findings.
AJR Am J Roentgenol, 172 (1999), pp. 1235-1238
[126.]
M.S. Srikanth, B.R. West, M. Ishitani, H. Isaacs Jr, H. Applebaum, G. Costin.
Benign testicular tumors in children with congenital adrenal hyperplasia.
J Pediatr Surg, 27 (1992), pp. 639-641
[127.]
N.M. Stikkelbroeck, B.J. Otten, A. Pasic, G.J. Jager, C.G. Sweep, K. Noordam, et al.
High prevalence of testicular adrenal rest tumors, impaired spermatogenesis and Leydig cell failure in adolescent and adult males with congenital adrenal hyperplasia.
J Clin Endocrinol Metab, 86 (2001), pp. 5721-5728
[128.]
J.D. Wilson.
The role of androgens in male gender role behaviour.
Endocr Rev, 20 (1999), pp. 726-737
[129.]
J. Helleday, G. Edman, E.M. Ritzen, B. Siwers.
Personality characteristics and platelet MAO activity in women with congenital adrenal hyperplasia.
Psychoneuroendocrinology, 18 (1993), pp. 343-354
[130.]
H.F.L. Meyer-Bahlburg.
Gender and sexuality in classic congenital adrenal hyperplasia.
Endocrinol Metab Clin North Am, 30 (2001), pp. 155-172
[131.]
R.W. Dittmann, M.H. Kappes, M.E. Kappes, D. Borger, H. Stegner, R.H. Willig, et al.
Congenital adrenal hyperplasia. I. Gender-related behavior and attitudes in female patients and sisters.
Psychoneuroendocrinology, 15 (1990), pp. 401-420
[132.]
R.W. Dittmann, M.E. Kappes, M.H. Kappes.
Sexual behaviour in adolescent and adult females with congenital adrenal hyperplasia.
Psychoneuroendocrinology, 17 (1992), pp. 153-170
[133.]
U. Kuhnle, M. Bullinger.
Outcome of congenital adrenal hyperplasia.
Pediatr Surg Int, 12 (1997), pp. 511-515
[134.]
Z. Hochberg, M. Gardos, A. Benderly.
Psychosexual outcome of assigned females and males with 46,XX virilizing congenital adrenal hyperplasia.
Eur J Pediatr, 146 (1987), pp. 497-499
[135.]
A. Patocs, M. Toth, C. Barta.
Hormonal evaluation and mutation screening for steroid 21-hydroxylase deficiency in patients with unilateral and bilateral adrenal incidentalomas.
Eur J Endocrinol, 147 (2002), pp. 349-355
[136.]
S. Jaresch, E. Kornely, H.K. Kley, R. Schlaghecke.
Adrenal incidentaloma and patients with homozygous or heterozygous congenital adrenal hyperplasia.
J Clin Endocrinol Metab, 74 (1992), pp. 685-689
[137.]
S.M. Baumgartner Parzer, S. Pauschenwein, W. Waldhausl, K. Polzler, P. Nowotny, H. Vierhapper.
Increased prevalence of heterozygous 21-OH germline mutations in patients with adrenal incidentalomas.
Clin Endocrinol, 56 (2002), pp. 811-816
[138.]
V. Bhatia, R. Shukla, S.K. Mishra, R.K. Gupta.
Adrenal tumor complicating untreated 21-hydroxylase deficiency in a 5 1/2 year-old-boy.
Am J Dis Child, 147 (1993), pp. 1321-1323
[139.]
S. Takahashi, S. Minowada, K. Tomita, N. Katumata, T. Tanaka, T. Kitamura.
Massive adrenocortical adenoma following longterm treatment of 21-hydroxylase deficiency.
J Urol, 167 (2002), pp. 1390-1391
[140.]
R. Ravichandran, F. Lafferty, M.J. McGinniss, H.C. Taylor.
Congenital adrenal hyperplasia presenting as massive adrenal incidentalomas in the sixth decade of life: report of two patients with 21-hydroxylase deficiency.
J Clin Endocrinol Metab, 81 (1996), pp. 1776-1779
[141.]
E.S. Lightner, L.S. Levine.
The adrenal incidentaloma. A pediatric perspective.
Am J Dis Child, 147 (1993), pp. 1274-1276
[142.]
U. Kuhnle, M. Bullinger, H.P. Schwarz.
The quality of life in adult female patients with congenital adrenal hyperplasia: a comprehensive study of the impact of genital malformations and chronic disease on female patients life.
Eur J Pediatr, 154 (1995), pp. 708-716
[143.]
J. Jaaskelainen, R. Voutilainen.
Long term outcome of classical 21-hydroxylase deficiency: diagnosis, complications and quality of life.
Acta Paediatr, 89 (2000), pp. 183-187
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