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Review
. 2002 Apr;86(4):266-9.
doi: 10.1136/adc.86.4.266.

Why Is Management of Patients With Classical Congenital Adrenal Hyperplasia More Difficult at Puberty?

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Free PMC article
Review

Why Is Management of Patients With Classical Congenital Adrenal Hyperplasia More Difficult at Puberty?

E Charmandari et al. Arch Dis Child. .
Free PMC article

Abstract

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is an autosomal recessive condition in which deletions or mutations of the cytochrome P450 21-hydroxylase gene cause glucocorticoid and often mineralocorticoid deficiency. Despite optimal substitution therapy, control of classical CAH is often inadequate at puberty, and the problems encountered relate to hypocortisolism and/or hyperandrogenism. A number of physiological alterations in the endocrine milieu at puberty, which include alterations in the growth hormone/insulin-like growth factor axis, insulin sensitivity, as well as the activity of enzymes participating in cortisol metabolism and adrenal steroidogenesis, may account for the documented hypocortisolism and elevated androgen production, and may explain the difficulty in maintaining adequate adrenocortical suppression in pubertal patients with classical 21-hydroxylase deficiency.

Figures

Figure 1
Figure 1
Schematic representation of adrenal steroidogenesis. Solid line: major pathway. Dotted line: major pathway in ovaries and minor in adrenals. *Deficient enzymatic activity results in CAH. StAR, steroidogenic regulatory protein; scc, cholesterol side chain cleavage enzyme; 3ß-HSD, 3ß-hydroxysteroid dehydrogenase; 17ß-HSD, 17ß-hydroxysteroid dehydrogenase; DHEA, dehydroepiandrosterone; A, androstenedione.
Figure 2
Figure 2
Box plot schematic representation of (A) total cortisol clearance in prepubertal, pubertal, and postpubertal patients with classical 21-hydroxylase deficiency; and (B) half life of free cortisol in pubertal male and female patients with classical CAH. The line is drawn across the box at the median. The lower line of the box is at the first quartile (Q1) and the upper line is at the third quartile (Q3). The whiskers are the lines that extend from the top or the bottom of the box to the adjacent values within ± 1.5 x (Q3 - Q1). The asterisks indicate significant differences between groups (From Charmandari E, Hindmarsh PC, Johnston A, Brook CGD. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: alterations in cortisol pharmacokinetics at puberty. J Clin Endocrinol Metab 2001;86(6):2701–8[Abstract/Free Full Text][Abstract/Full Text]).

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