Descargar

Pseudohermafroditismo (HSC) su explicación y algunos comparativos con la persona transexual (página 3)

Partes: 1, 2, 3

  • 46. Kovacs J, Votava F, Heinze G, Solyom J, Lebi J, Pribilincova Z, et al. Lessons from 30 years of clinical diagnosis and treatment of congenital adrenal hyperplasia in five middle European countries. J Clin Endocrinol Metab. 2001; 86: 2964—85.

  • 47. Krone N, Arlt W. Genetics of congenital adrenal hyperplasia. Best Pract Res Clin Endocrinol Metab. 2009; 23: 181-92.

  • 48. Kumar, H., Kiefer, J.H., Rosenthal, I.E., Clark, S.S.:"Clitoroplasty: experience during a 19-fear period". J. Urol. 1974; 111: 81.

  • 49. Labarta J, Bellos E, Ruiz-Echarri M, Rueda C. Estado en la edad adulta y propuesta de optimización terapeútica de la HSC. An Pediatr. 2003;58( Supl2):12-34.

  • 50. Lattimer, J.K.:"Relocation and resection of the enlarged clítoris with preservation of the glands: An alternative to amputation". J. Urol. 1961; 86: 113.

  • 51. Leslie J DeGroot, J Larry Jamenson, Endocrinology fourth edition. Volumen II Edition 2001

  • 52. Levine LS, Zachmann M, New MI. Genetic mapping of the 21-hydroxylase deficiency gene within the HLA linkage group. N Engl J Med 1978; 299: 911.

  • 53. Levine S. Hiperplasia suprarrenal congénita. Pediatrics Review 2000;21:215-28.

  • 54. Loriaux L. Glucocorticoid therapy in the intensive care unit. N Engl J Med. 2004; 350:1601-2.

  • 55. MacLaughlin DT, Donahoe PK. Sex determination and differentiation.N Engl J Med 2004; 350(4):367-78.

  • 56. Mah PM, Jenkins RC, Rostami-Hodjegan A, Newell-Price J, Doane A, Ibbotson V, et al. Weight-related dosing, timing and monitoring hydrocortisone replacement therapy in patients with suprarrenal insufficiency. Clin Endocrinol. 2004; 61: 367-75.

  • 57. Martínez MA. Hernández BJ. Ramírez RCA, Esparza LH. Hiperplasia suprarrenal congénita secundaria a deficiencia de 21-hidroxilasa. Reporte de un caso. Bol Clin Hosp Infant Endocrinol. 2007; 24(1):38-41.

  • 58. Merke D, Borstein S. Congenital adrenal hyperplasia. Lancet. 2005;365: 2125-36.

  • 59. Merke D, Bortein SR, Avila NA. Future directions in the study and management of congenital adrenal hyperplasia due to 21 hydroxilase deficiency. Ann Intern Med. 2002;136:320-34.

  • 60. Migeon CJ, Wisniewwski AB. Congenital adrenal hyperplasia swing21 hydroxilase deficiency: growth, developmente and therapeutic considerations. Endocrinol Metab Clin North Am. 2001; 30(1):193-206.

  • 61. Miller WL, Levine LS. Molecular and clinical advances in congenital adrenal hyperplasia. J Pediatr 1987; 111: 1-13.

  • 62. Miller WL. Genetics, diagnosis and management of 21-hydroxylase deficiency. J Clin Endocrinol Metab 1994; 78: 241-6.

  • 63. Minagawa M, Yasuda T, Niimi H J. Spinal and femoral bone mass accumulation during normal adolescence: comparison with female patients with sexual precocity and with hypogonadism.Clin Endocrinol Metab 1996; 81 (3): 1248-1253.

  • 64. Muirhead S, Sellers EAC, Guyda H. Indicatros of adult height outcome in classical 21-hidroxilase deficiency congenital adrenal hyperplasia. J Pediatr. 2002; 141: 247-52.

  • 65. New MI. Steroid 21-hydroxylase deficiency (congenital adrenal hyperplasia). Am J Med 1995; 98 (Suppl 1A):2-8.

  • 66. Niemann LK. Dynamic evaluation of suprarrenal hypofunction. J Endocrinol Invest. 2003; 26 7 Suppl: 74-82.

  • 67. Nieto Cuartero JA. Estados intersexuales e hipogonadismo: anomalías de la diferenciación gonadal. En: Libro Curso de Formación Postgrado de la Sociedad Española de Endocrinología Pediatrica;2001. p. 74—763.

  • 68. Nimkarn S, New MI. Prenatal diagnosis and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Mol Cell Endocrinol. 2009; 300:192-6.

  • 69. Oliver A, Ezquieta B, Gussinye M. Hiperplasia suprarrenal congénita. En: Argente J, Carrascosa A, editores. Tratado de Endocrinología Pediátrica y de la Adolescencia. 2da ed. Barcelona; 2000. p. 995-1042.

  • 70. Oliver A, Ezquieta B, Valera JM. Estudio auxológico, bioquímico, clínico y puberal en las formas no clásicas de déficits de 21 hidroxilasa. Rev Horm Fact CECIM. 1999;4:1-8.

  • 71. Orita M. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics1989; 5: 874-879.

  • 72. Owerbach D, Sherman L, Ballard AL, Azziz R. Pro-453 to Ser mutation in CYP21 is associated with nonclassic steroid 21-hydroxylase deficiency. Mol Endocrinol. 1992; 6: 1211-5.

  • 73. Pang S, Wallace MA, Hofman L, Thuline HC, Dorche C, Lyon IC T et al World-wide experience in newborn screenning for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Pediatrics 1988; 81: 866 -874.

  • 74. Pang S. Congenital adrenal hyperplasia. Endocrinol Metab Clin North Am 1997; 26: 853-91.

  • 75. Parajes S, Quinteiro C, Dominguez F, Loidi L. High frequency of copy number variations and sequence variants at CYP21A2 locus: implication for the genetic diagnosis of 21-hydroxylase deficiency. PLoS ONE. 2008; 3: e2138.

  • 76. Park KH, Lee SJ, Kim JY, Kim JY, Bai SW, Kim JW. A concomitant decrease in cortical and trabecular bone mass in isolated hypogonadotropic hypogonadism and gonadal dysgenesis.

  • 77. Parker KL. The roles of steroidogenic factor 1 in endocrine development and function. Mol Cell Endocrinol 1998;140(1-2):59-63

  • 78. Peacey SR, Guo CY, Robinson AM, Price A, Giles MA, Eastell R, et al. Glucocorticoid replacement therapy: are patients overtreated and does it matter? Clin Endocrinol. 1997; 46: 255-61.

  • 79. Pesantes EL, López CC, Robles UC, Valencia SG, Millonte GG. Hiperplasia Suprarrenal. Revisión de 10 años en el Instituto Nacional de Pediatría. Acta Pediatr Mex. 2000; 21:137-41.

  • 80. Pinsky L. Androgen resistance due to mutation of the androgen receptor. Clin Invest Med1992; 15: 456-473.

  • 81. Pombo M. Desarrollo Sexual y Pubertad. En: Tratado de Endocrinología Pediátrica. 3ra edi. Madrid: ESPAX; 2002. p. 719-42.

  • 82. Quigley CA, De Bellis A, Marschke K, El-Awadi MK, WilsonEM et al. Androgen Receptor defects: Historical, clinical, and molecular perspectives. Endocr Rev1995; 16: 271-321.

  • 83. Relimpio A, Mangas C, Losada V, Pumar L. Non-classical 21 hydroxilase deficiency: clinico-hormonal discrepancies and intrafamiliar phenotypic variability. Rev Clin Esp. 1999;199(6):366-8.

  • 84. Rodríguez-Arnao MD, Rodríguez A. Déficit de 21 hidroxilasa: aspectos actuales. Endocrinol Nutr. 2006,53(2):124-36.

  • 85. Seminara SB, Messager S, Chatzidaki EE, Thresher RR, Acierno JS Jr, Shogoury JK, et al. The GPR54 gene as a regulator of puberty. N Engl J Med. 2003; 349: 1614-27.

  • 86. Sepúlveda Agudelo J. Síndrome de hiperplasia adrenal congénita no clásica y embarazo. Rev Chil Obstet Ginecol. 2003;68(1):28-31.

  • 87. Sinnecker GH, Hiort O, Nitsche EM, Holterhus P-M, Kruse K. Functional assesment and clinical classification of androgen sensitivity in patients with mutations of the androgen receptor gene. Eur J Pediatr1997: 156: 7-14.

  • 88. Soriano Guillén L, Velazquez de Cuellar Paracchi M. Hiperplasia Suprarrenal Congénita. Pediatr Integral. 2007;XI (7):601-10.

  • 89. Speiser and White; Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency; Endocrine Reviews 21(3): 245-291; 2000

  • 90. Speiser PW, Dupont B, Rubinstein P, Piazza A, Kastelan A, New MI High frequency f nonclassical steroid 21 -hydroxilase deficiency. Am J Hum Genet, 1985; 37:650 -667.

  • 91. 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: 650-67.

  • 92. Speiser PW. Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Endocrinol Metab Clin North Am 2001; 30:31-60.

  • 93. Speiser PW. Congenital adrenal hyperplasia owwing to 21 hydroxilase deficiency. Endocrinol Metab Clin North Am. 2001; 30:31-60.

  • 94. Spence, H.M., Hallen, T.D.:"Genital reconstruction in the female with adrenogenital syndrome". Brit. J. Urol. 1973; 45: 126.

  • 95. Therrell BL. Newborn screening for congenital adrenal hyperplasia. Endocrinol Metab Clin North Am. 2001; 30: 15-30.

  • 96. Wedel A. Molecular genetics of congenital adrenal hyperplasia (21-hydroxilase deficiency): implications for diagnosis, prognosis and treatment. Acta Pediatr. 1998;87:159-64.

  • 97. White PC, Speiser PW. Congenital adrenal hyperplasia due to 21 hydroxilase deficiency. Endocr Rev. 2000;21: 245-91.

  • 98. White PC, Speiser PW. Long term consequences of chilhood-onset congenital adrenal hyperplasia. Best Pract Res Clin Endocrinol Metab. 2002;16: 273-88.

  • 99. With PC, Speicer PW. Congenital adrenal hyperplasia. Engl J Med. 2003;349: 766-8.

  •  

     

    Autor:

    Dra. Mireille Emmanuelle Brambila

    Higiene mental – Trastornos y enfermedades somáticas

    Diploma de Administración de Hospitales

    Mexicali Baja California.

    México 2014

    Partes: 1, 2, 3
     Página anterior Volver al principio del trabajoPágina siguiente