Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency. A Study of Five Cases

Bouchard, Philippe; Kuttenn, Frédérique; Mowszowicz, Irène; Schaison, G; Raux-Eurin, Marie-Charles; Mauvais-Jarvis, P

doi:10.1097/00006254-198108000-00018

Cited by 2 publications

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“…Sixteen patients received the classical daily 20-mg hydrocortisone treatment to suppress adrenal androgen oversecretion, and 14 patients received antiandrogen CPA therapy. However, in LAH patients, the enzymatic defect is only partial, and at the expense of adrenal hyperplasia, the plasma F level is normal and may be sufficient, at least under basal conditions, since most patients consulted for isolated hirsutism (5,12,13,24). This excellent improvement was similar to that observed with CPA on hirsutism of other origins (polycystic ovaries, idiopathic hirsutism, etc.)…”

Section: Discussionsupporting

confidence: 57%

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Cyproterone AcetateVersusHydrocortisone Treatment in Late-Onset Adrenal Hyperplasia

Spritzer

Billaud

Thalabard

et al. 1990

The Journal of Clinical Endocrinology & Metabolism

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125

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Thirty late-onset adrenal hyperplasia patients consulting for isolated hirsutism were randomly divided into two groups; group 1 (n = 16) was treated with hydrocortisone in order to suppress androgen adrenal secretion, and group 2 (n = 14) received cyproterone acetate (CPA) antiandrogen therapy to inhibit peripheral androgen activity. The clinical and hormonal effects of each type of treatment were evaluated. Before treatment, the clinical and hormonal profiles of the two patient groups did not differ significantly. Excellent clinical evolution in terms of the regression of hirsutism was observed in the CPA-treated patients (54% decrease in the clinical score in 1 yr), in contrast with the slight decrease in hirsutism (26%) after hydrocortisone treatment. In hydrocortisone-treated patients, plasma androgen decreased to normal levels: testosterone from 3.05 +/- 1.45 to 1.46 +/- 0.42 nmol/L and delta 4-androstenedione from 13.6 +/- 4.1 to 6.33 +/- 1.47 nmol/L. Conversely, in CPA-treated patients, only a slight decrease in testosterone from 2.98 +/- 1.98 to 2.29 +/- 0.64 nmol/L and in delta 4-androstenedione from 12.9 +/- 5.9 to 9.86 +/- 2.23 nmol/L was observed. This slight decrease in plasma androgens contrasts with the rapid clinical improvement after CPA. These results emphasize the importance of peripheral receptivity to androgens in the clinical expression of hyperandrogenism. Moreover, they indicate that peripheral antiandrogen therapy may be more appropriate in late-onset adrenal hyperplasia patients than conventional adrenal inhibition using cortisone therapy.

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Section: Discussionsupporting

confidence: 57%

“…Plasma levels were determined by RIAs, as previously described (5,12,(17)(18)(19). Blood samples were collected at 0800 h during the follicular phase of the menstrual cycle.…”

Section: Hormonal Determinationsmentioning

confidence: 99%

Cyproterone AcetateVersusHydrocortisone Treatment in Late-Onset Adrenal Hyperplasia

Spritzer

Billaud

Thalabard

et al. 1990

The Journal of Clinical Endocrinology & Metabolism

Self Cite

125

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“…Their patients therefore might rather qualify for the so-called nonclassical forms of the 21-hydro¬ xylase deficiency and maybe correspond to the late-onset form of CAH (New 1984). Similarly, the patients described by Bouchard et al (1981), unlike our population, also had elevated baseline 170H-P levels.…”

Section: Discussionmentioning

confidence: 69%

Is heterozygosity for the steroid 21-hydroxylase deficiency responsible for hirsutism, premature pubarche, early puberty, and precocious puberty in children?

Knorr

Bidlingmaier

Holler

et al. 1986

Acta Endocrinologica

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We applied the ACTH-stimulation test developed in our laboratory for the detection of heterozygous carriers of the 21-hydroxylase deficiency gene to patients suffering from hirsutism (n=89), premature pubarche (n=75), early puberty (n=37), and precocious puberty (n=22), While, in the general population, this test is positive in less than 2%, we found in 33% of hirsute patients, in 41% of patients with premature pubarche, and in 33% of patients with early puberty a hormonal response similar to the one seen in heterozygous carriers for the 21\x=req-\ hydroxylase defect. In contrast, only 18% of patients with precocious puberty responded abnormally. Thus we speculate that, at least in some patients with hirsutism, premature pubarche, and early puberty, heterozygosity for the 21-hydroxylase defect plays a major role in the pathogenesis of these disorders.

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Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency. A Study of Five Cases

Cited by 2 publications

References 0 publications

Cyproterone AcetateVersusHydrocortisone Treatment in Late-Onset Adrenal Hyperplasia

Cyproterone AcetateVersusHydrocortisone Treatment in Late-Onset Adrenal Hyperplasia

Is heterozygosity for the steroid 21-hydroxylase deficiency responsible for hirsutism, premature pubarche, early puberty, and precocious puberty in children?

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