Congenital Adrenal Hyperplasia
DOI:
https://doi.org/10.18597/rcog.699Keywords:
Congenital adrenal hyperplasia, adrenocorticotropic hormone, 21 hydroxylase, 17 hydroxyprogesterone, prenatal diagnosisAbstract
Congenital adrenal hyperplasia is the most common adrenal disorder in childhood and the most frequent cause of sexual ambiguity.
21 hydroxylase deficiency is the most common form of congenital adrenal hyperplasia, and accounts for approximately 90-95% of patients. The initial diagnosis of 21-hidroxylase deficiency is made by plasma levels 17 hydroxiprogesterone and the diagnosis can be done in pregnancy. The medical treatment is mainly glucocorticoid therapy; also treatment can be performed in pregnancy.
11 beta hydroxylase deficiency accounts for 5-8% of congenital adrenal hyperplasia.
The congenital adrenal hyperplasia is caused too by deficient activity of 3 beta-hydroxyseroids dehydrogenase/delta 5-delta, 4 isomerase, 17 alpha hydroxylase, 20 hydroxylase, 18 hydroxylase and 17,20 desmolase.
An overview of the main aspects of congenital adrenal hyperplasia is made, emphasis is done in 21 hydroxylase deficiency.
Author Biographies
Janer Sepúlveda Agudelo
Lucy Sanguino Abril
Hermes Jaimes Carvajal
References
Pang S. Congenital adrenal hyperplasia. Endocrinology and Metabolism Clinics 1997; 26; 853-91.
Bose HS, Sugawara T, Strauss JF, et al. The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. N. Engl J Med 1996; 335: 1870-8.
Hershlag A, Peterson CM. Trastornos Endocrinos. In: Berek JS, Hillard PA, Adashi EY. Ginecología de Novak. 12 Ed. McGraw-Hill. Interamericana. México 1997; 849-52.
Swedlow AJ, Higgins CD, Brook CG, et al. Mortality in patients with congenital adrenal hyperplasia: A cohort study. Journal of Pediatrics 1998; 133: 516-20.
Pang S. Congenital adrenal hyperplasia. In Serono Symposia: Current Review of Pediatric Endocrinology, Washington D.C.,1993; 101.
Merke DP, Cutler GB. New approaches to the treatment of congenital adrenal hyperplasia. JAMA 1997; 277: 1073-6.
Speiser PW, New MI. Diagnóstico y tratamiento prenatales de la hiperplasia suprarrenal congénita. In: Koren G. Ito S. Clínicas de perinatología. McGraw-Hill. Interamericana. México 1994; 3: 639-53.
Rebar RW. Pubertad. In: Berek JS, Hillard PA, Adashi EY. Ginecología de Novak. 12 Ed. MacGraw-Hill. Interamericana. México 1997; 796-9.
Therrell BL, Berenbaum SA, et al. Results of Screening 1.9 million Texas Newborns for 21-Hydroxylase deficient congenital adrenal hyperplasia. Pediatrics 1998; 101: 583-90.
Nader S. Other endocrine disorders of pregnancy. In: Creasy RK, Resnik R. Maternal fetal medicine. Principles and practice W.B. Saunders. Company. Philadelphia. 3ra ed. 1994; 1017-8.
Azziz R, Dewailly D, Owerbach D. Clinical review 56: Nonclassic adrenal hyperplasia. Current concepts. J Clin Endocrinol Metab 1994; 78: 810-5.
Eldar-Geva T, Hurwitz A, Vecsei P, et al. Secondary biosynthetic defects in women with late-onset congenital adrenal hyperplasia. N Engl J Med 1990; 323: 855.
Miller WL. Pathophysiology, genetics, and treatment of hyperandrogenism. Pediatric Clinics of North America 1997; 44: 375-95.
Henao G. Hiperplasia Suprarrenal. In: Botero J, Jubiz A, Henao G. Obstetricia y Ginecología 5a. Ed. Editorial Carvajal S.A. Medellín Colombia 1997; 414-19.
Sperof L, Glass RH, Kase NG. Clinical gynecologic endocrinology and infertility. Sixth ed. Lippincott Williams E Wilkins, 1999 United States of America. 349-56.
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.
Feldman S, Billaud L, Thalabard J, et al. Fertility in women with late-onset adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab 1992; 74: 635.
Ravichandran R. Lafferty F. McGinniss MJ, Taylor HC. 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 1996; 81: 1776-9.
Cook DM. Diagnostic Evaluation Update Adrenal Mass. Endocrinology and Metabolism Clinics, 1997; 26: 829-52.
Barzon L, Scaroni C, Sonino N, Fallo F, Gregianin M, Macri C, Boscaro M. Incidentally discovered adrenal tumors: Endocrine and scintigraphic correlates. J Clin Endocrinol Metab 1998; 83: 55-62.
Jaresch S, Kornely E, Kley HK, Schlaghecke R. Adrenal incidentaloma and patients with homozygous or heterozygous congenital adrenal hyperplasia. J Clin Endocrinol Metab 1992; 74: 685-9.
Allen DB, Hoffman Gl, Fitzpatrick P, et al. Improved precision of newborn screening for congenital adrenal hyperplasia using weight-adjusted criteria for 17-hydroxyprogesterone levels. J Pediatr 1997; 130: 128-33.
Rueda González R, Rueda Sáenz R. Guías diagnósticas en infertilidad. Cali Colombia, 1987; 123-4.
Avivi I, Pollack S, Gideoni O, Linn S, Blumenfeld Z. Overdiagnosis of 21-hydroxylase late onset congenital adrenal hyperplasia: correlation of corticotropin test and human leukocyte antigen typing. Fertility and Sterility, 1996; 66: 557-63.
Mercado AB, Wilson RC, Cheng KC, et al. Extensive personal experience. Prenatal treatment and diagnosis of congenital adrenal hyperplasia owing to steroid 21 hydroxylase deficiency. J Clin Endocrinol Metab 1995; 80: 2014-20.
Levine LS, Pang S. Prenatal diagnosis and treatment of congenital adrenal hyperplasia. J Pediatric Endocrinol 1994; 3: 193.
Wilson RC, Wei JQ, Cheng KC, Mercado AB, New MI. Rapid DNA analysis by allele specific PCR for detection of mutations in the steroid 21-hydroxylase gene. J Clin Endocrinol Metab 1995; 80: 1635-40.
Schwitzgebel VM, Tyrrell JB, Fitzgerald P, Kaplan SL. Normal females infants born of mothers with classic congenital adrenal hyperplasia due to 21- Hydroxylase deficiency. J Clin. Endocrinol Metab 1999; 84: 930-6.
Carmina E, Lobo RA. Ovarian suppression reduces clinical and endocrine expression of late-onset congenital adrenal hyperplasia due to 21 hydroxylase deficiency. Fertility and Sterility 1994; 62: 738-43.
Pang S, Clark AT, Freeman LC, Dolan LM, et al. Maternal side effects of prenatal dexamethasone therapy for fetal congenital adrenal hyperplasia. J Clin Endocrinol Metab 1992; 75: 249-53.
Azziz R, Bradley El Jr, Potter HD, Boots LR. 3B-hydroxysteroid dehydrogenase deficiency in hyperandrogenism. Am J Obstet Gynecol 1993; 168: 889.
Rosler A, Weshler N, Leiberman F, Hochberg Z, Widenfeld J, Sack J, Chemke J. 11 B- hidroxilase deficiency congenital adrenal diagnosis. J Clin Endocrinol Metab 1988; 66: 830.
How to Cite
Downloads
Downloads
Published
Issue
Section
| Article metrics | |
|---|---|
| Abstract views | |
| Galley vies | |
| PDF Views | |
| HTML views | |
| Other views | |
