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11β-羟化酶缺乏所致先天性肾上腺皮质增生症。11例研究(作者译)

[Congenital virilizing adrenal hyperplasia due to 11 beta-hydroxylase deficiency. Study of eleven cases (author's transl)].

作者信息

Dunand A, Roger M, Chaussain J L, Nocton F, Job J C

出版信息

Sem Hop. 1981;57(33-36):1392-7.

PMID:6270798
Abstract

Eleven cases of congenital virilizing adrenal hyperplasia are studied. This study leads to point out some peculiar characteristics: virilization of external genitalia in girls is most usually important; arterial hypertension is delayed, usually after some years; plasma androgens and desoxycortisol are highly elevated; plasma 17-hydroxyprogesterone is slightly elevated and this may be misleading; good results of treatment which must preferably use hydrocortisone since plasma cortisol is sometimes low; long-term risks in treated children include chronic hypertension in both sexes, advanced puberty in girls and pubertal gynecomastia in boys.

摘要

对11例先天性肾上腺皮质增生症男性化患者进行了研究。该研究指出了一些特殊特征:女孩外生殖器男性化通常最为明显;动脉高血压出现较晚,通常在数年后;血浆雄激素和脱氧皮质醇高度升高;血浆17-羟孕酮轻度升高,这可能会产生误导;治疗效果良好,由于血浆皮质醇有时较低,治疗最好使用氢化可的松;接受治疗儿童的长期风险包括男女两性的慢性高血压、女孩性早熟和男孩青春期乳腺增生。

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