Congenital Adrenal Hyperplasia

Authors

  • Ewelina Głodek-Brzozowska Z Oddziału Dziecięcego Szpitala Wojewódzkiego nr 2 w Rzeszowie Ordynator Oddziału: dr n. med. J. Rusin

Keywords:

congenital adrenal hyperplasia, congenital virilizing adrenal hyperplasia, 21-hydroxylase deficiency, 11-beta-hydroxylase deficiency, 3-beta-hydroxysteroid-dehydrogenase deficiency, 17-alpha hydroxyls deficiency, lipoid adrenal hyperplasia, StAR deficiency

Abstract

Congenital adrenal hyperplasia (CAH) refers to any of several autosomal recessive diseases resulting from defects in steps of the synthesis of cortisol from cholesterol by the adrenal glands. In affected individuals, the disease begins early in gestation and leads to disease that is manifest at birth. Without cortisol, there is a failure of negative feedback and excessive secretion of corticotropin-releasing hormone from the hypothalamus and ACTH from the anterior pituitary. Continued secretion of ACTH causes unremitting stimulation of the adrenal cortex, leading to hyperplasia (an increase in the number of cells in that tissue). Pathogenesis, frequency, symptomatology, long-term out outcomes and treatment were presented.

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References

Diagnosis and treatment of congenital adrenal hyperplasia Romer TE, Endokrynologia Polska, 2003/5:631

Congenital Adrenal Hyperplasia, Thomas A Wilson, MD, Professor of Clinical Pediatrics, 1, eMedicine

Pediatria, K. Kubicka, W. Kawalec, T. Romer, 2004, 549.

CAH: Update on prenatal diagnosis and treatment, Carlson AD, Obeid JS, Kanellopoulou N et al., J Steroid Bioch Mol 1999, 69: 16.

Genotyping steroid 21-hydroxylase deficiency: hormonal reference data. New MI, Lorenzen F, Lerner A,J Clin Endocrinol Metab, 1983, 57:320.

Future directions in study and management of CAH due to 21-hydroxylaze deficiency, Ann Intern Med 2002, 136: 320.

Structure of the human steroid 21-hydroxylase genes, Proc Natl Acad Sci U S A 1986;83(14):5111-5. White PC, New MI, Dupont B.

Newborn screening for congenital adrenal hyperplasia in New Zealand, Cutfield W, Webster D. J Pediatr 1995; 126(1): 118.

First trimester prenatal treatment and molecular genetic diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency). Speiser PW, Laforgia N, Kato K, et al. J Clin Endocrinol Metab 1990;70(4): 838.

Chronic effects of nonpeptide corticotropin relasing hormone type I receptor antagonist on pituitary- adrenal function, body weight and metabolic regulation, Bornstein SR, Webster EL, Endocrinology 1998, 139:1546.

Prenatal hormones and postnatal socialization by parents as determinants of male-typical toy play in girls with congenital adrenal hyperplasia, Pasterski VL, Geffner ME, Brain C, Hindmarsh P, Brook C, Hines M. Child Dev 2005; 76(1):264.

Androgen and psychosexual development: core gender identity, sexual orientation and recalled childhood gender role behavior in women and men with congenital adrenal hyperplasia (CAH). Hines M, Brook C, Conway GS. J Sex Res 2004;41(1): 75.

Steroid 11 beta-hydroxylase deficiency and related disorders. White PC, Speiser PW. Endocrinol Metab Clin North Am 1994; Jun;23(2): 325.

Coonor M. Ferguson M. A.: Podstawy genetyki medycznej, PZWL Warszawa 1998, 247, 253, 254.

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Published

2007-03-30

How to Cite

Głodek-Brzozowska, E. (2007). Congenital Adrenal Hyperplasia. European Journal of Clinical and Experimental Medicine, 5(1), 91–98. Retrieved from https://journals.ur.edu.pl/ejcem/article/view/13372

Issue

Vol. 5 No. 1 (2007): Medical Journal of the Rzeszow University

Section

REVIEW PAPERS

License

Copyright (c) 2007 Medical Journal of the Rzeszow University

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