Congenital adrenal hyperplasia due to partial 21-hydroxylase deficiency. A study of five cases.-猫眼课题宝

由于部分 21-羟化酶缺乏而导致的先天性肾上腺增生。

DOI：

10.1530/acta.0.0960107

发表时间：

1981

期刊：

Acta endocrinologica

影响因子：

通讯作者：

中科院分区：

文献类型：

作者：

P. Bouchard;F. Kuttenn;I. Mowszowicz;G. Schaison;M. Raux;P. Mauvais‐Jarvis

对五名因部分21-羟基酶缺乏而导致的青春期后多毛的女性进行了研究。这些患者均未发现外生殖器异常。他们与3名21-羟基酶完全缺陷的成年女性进行了比较。肌注2 5 0 g/m合成ACTH后17羟孕酮(17 OHP)水平显著升高(2 2 m=+-12nm o l/L至34 9 m=+-153nm o l/L)，即可确诊为2 1羟基酶缺乏症。然而，在出生时就发现21-羟基酶缺乏症并表现为外生殖器异常的成年妇女中，血浆17-OHP在基础条件下升高(512\m=+-106nmol/L)，服用ACTH后仅略有升高(657\m=+-133nmol/L)。两组患者08.00h血浆皮质醇水平均低于正常，但仅在部分21-羟基酶缺乏组略有下降。ACTH刺激后，所有患者的血浆皮质醇水平均低于正常水平，但部分缺损者的血浆皮质醇水平明显升高。早熟和延迟男性化之间的差异表明了酶缺陷的重要性。基础状态下和ACTH给药后，血浆睾酮(T)和雄烯二酮(D4)水平均升高。然而，在延迟发病的多毛症患者中，大多数循环T似乎起源于G=D4到T的外周转换。在21-羟基酶完全缺陷(260\m=+-50 pg/ml)患者血浆ACTH水平显著升高，而在部分缺陷患者(&lt；40 pg/ml)血浆ACTH水平正常。本文测定了4例部分21-羟基酶缺乏症患者耻骨皮肤匀浆中睾酮5-g=a-还原酶的活性。由孵育的[~3H]睾酮形成的双氢睾酮+雄烯二醇的量在女性正常范围内。因此，部分21-羟基酶缺乏症患者的男性化似乎主要是由于活跃的雄激素产生的增加，而不是像特发性多毛症所观察到的那样，夸大了皮肤对雄激素前体的利用。21羟基酶缺乏引起的先天性肾上腺增生症(CAH)通常在女孩出生时被诊断出来，而且大多数患者即使在临床上没有肾上腺功能不全的情况下，也会出现一些外生殖器的异常。然而，由于这种先天性综合症的延迟形式而导致的男性化已被描述为在儿童时期、青春期之后或成年期间(Decourt等人。1957年；Brooks等人。1960年；Cara&Gardner 1960年；Lipsett&Riter 1961年；Molinatti等人。1964年；Mahesh等人。1968年；Riddick&Hammond 1975；Rosenwaks等人。1979年；Bricaire等人。1979年)。在本报告中，我们报告了5例后天性多毛症，没有任何其他男性化迹象。重印地址：PR P.Mauvais-Jarvis，H.Necker，149号，Rue de Sèvres，75730 Paris Cedex 15.二醇：3CE-雄烷二醇：5A-雄烷-3a，17？二醇3A-3？二醇：3？雄烷二醇。S：脱氢表雄酮硫酸盐。DHT：双氢睾酮：5A-雄烷-17？醇-3-酮。羟孕酮：4-孕烯-17a-醇-3，20-二酮。巴黎内科医院生殖内分泌学系；皮蒂医学院生物化学系

Five women with post pubertal hirsutism due to a partial 21-hydroxylase deficiency were studied. These patients had no abnormalities of the external genitalia. They were compared to 3 adult women with a complete defect in 21-hydroxylase. The diagnosis of 21-hydroxylase deficiency was substantiated by the dramatic increase in 17-hydroxyprogesterone (17-OHP) after im injection of 250 \g=m\gsynthetic ACTH (22 \m=+-\12 nmol/l to 349 \m=+-\153 nmol/l). However, in adult women with 21-hydroxylase deficiency recognized at birth and presenting abnormalities of the external genitalia, plasma 17-OHP was elevated in basal conditions (512 \m=+-\ 106 nmol/l) and only slightly increased after ACTH administration (657 \m=+-\133 nmol/l). Plasma cortisol levels determinated at 08.00 h were lower than normal in both groups but only slightly in groups with partial 21-hydroxylase deficiency. After ACTH stimulation, plasma cortisol levels remained lower than normal in all patients but with a noticeable increase in patients with partial defect. The differences noted between precocious and delayed onset virilization gave an indication of the importance of the enzyme defect. Plasma testosterone (T) and androstenedione (\g=D\4)levels were elevated both in basal conditions and after ACTH administration. However, in patients with delayed onset of hirsutism most circulating T seems to originate from peripheral conversion of \g=D\4to T. Plasma ACTH values were strongly elevated in patients with a complete defect in 21-hydroxylase (260 \m=+-\50 pg/ml) but normal in patients with partial deficiency (< 40 pg/ml). In vitro testosterone 5\g=a\-reductaseactivity was determined in pubic skin homogenates from 4 patients with partial 21-hydroxylase deficiency. The amount of dihydrotestosterone + androstanediols formed from incubated [3H]testosterone was in the normal range for women. Virilization of patients with partial 21-hydroxylase deficiency therefore seems to be essentially due to an increase in active androgen production and not to exaggerated skin 'utilization' of pre-androgens as observed in idiopathic hirsutism. Congenital adrenal hyperplasia (CAH) due to 21hydroxylase deficiency is generally diagnosed at birth in girls, and most patients do present, even in the absence of clinical adrenal insufficiency, some abnormalities of the external genitalia. However, virilization due to the delayed form of this con¬ genital syndrome has been described in childhood, after puberty or during adulthood (Decourt et al. 1957; Brooks et al. 1960; Cara & Gardner 1960; Lipsett & Riter 1961; Molinatti et al. 1964; Mahesh et al. 1968; Riddick & Hammond 1975; Rosenwaks etal. 1979; Bricaire et al. 1979). In this report, 5 cases of acquired hirsutism without any other sign of virilization are described. Address requests for reprints to: Pr P. Mauvais-Jarvis, Hôpital Necker, 149, rue de Sèvres, 75730 Paris Cedex 15. Adiol: 3ce-androstanediol: 5a-androstane-3a, 17ß-diol. 3a-3ß-diols : 3aand 3ß-androstanediols. DHA-S: dehydroepiandrosterone sulphate. DHT: dihydrotestosterone: 5a-androstan-17ß-ol-3-one. 17-OHP: 17o>hydroxyprogesterone: 4-pregnen-17a-ol-3,20-dione. Department ofReproductive Endocrinology, Hôpital Necker, Paris; Department ofBiological Chemistry, Faculty ofMedicine Pitie

Congenital adrenal hyperplasia due to partial 21-hydroxylase deficiency. A study of five cases.

由于部分 21-羟化酶缺乏而导致的先天性肾上腺增生。

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