Virilization without adrenal hyperplasia in 21-hydroxylase deficiency during fetal life.
Virilization without adrenal hyperplasia in 21-hydroxylase deficiency during fetal life.
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胎儿期 21-羟化酶缺乏症的男性化不伴肾上腺增生。
DOI：
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发表时间：
1984
影响因子：
5.8
通讯作者：
D. Knorr
中科院分区：
文献类型：
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作者：
U. Kuhnle;N. Böhm;G. Wolff;A. Mayerová;H. Dörr;F. Bidlingmaier;D. Knorr
在皮质醇21-羟化酶缺陷中雄激素的特征性过量产生通常被认为是继发于替代途径的ACTH刺激。只要对这种疾病进行肾上腺的形态学检查，肾上腺皮质增生是一个不变的发现。21-羟化酶缺陷的产前诊断方法的可用性使得有可能检查胎儿生命期间这种疾病的一些表现。我们研究了一个严重男性化的20周龄流产的女性胎儿与21-羟化酶缺陷的肾上腺既不明显扩大，也不显微镜下增生。在一个由于21-羟化酶缺乏而有先天性肾上腺皮质增生风险的妊娠中，在妊娠第18周进行了肾上腺穿刺术。21-羟化酶缺陷是由HLA分型和羊水中17-羟孕酮、睾酮和雄烯二酮水平的高度升高确定的。经过咨询，父母已经有了一个患有21-羟化酶缺乏症的耗盐型女孩，希望终止妊娠。流产的20周龄胎儿体重和身高在正常胎龄范围内。外生殖器模糊不清，极度男性化，阴蒂增大，阴唇阴囊皱褶融合。在阴蒂底部开放的尿生殖窦。内脏是女性，子宫和卵巢正常。两个肾上腺的大小和重量在胎龄中是正常的。肾上腺的组织学检查未发现异常，也未检测到增生。因此，在胎儿期21-羟化酶缺陷的肾上腺分泌过量的雄激素，并在没有肾上腺皮质增生的情况下引起男性化。
The characteristic excess production of androgens in the cortisol 21-hydroxylase defect is generally considered to be secondary to ACTH stimulation of alternate pathways. Whenever a morphological examination of the adrenals has been possible in this disorder, adrenocortical hyperplasia was a constant finding. The availability of methods for the prenatal diagnosis of the 21-hydroxylase defect has made it possible to examine some of the manifestations of this disorder during fetal life. We studied a severely virilized 20-week-old aborted female fetus with the 21-hydroxylase defect whose adrenals were neither grossly enlarged nor microscopically hyperplastic. In a pregnancy at risk for congenital adrenal hyperplasia due to a 21-hydroxylase deficiency, amniocentesis was performed in the 18th week of gestation. The 21-hydroxylase defect was established by HLA typing and highly elevated levels of 17-hydroxyprogesterone, testosterone, and androstendione in amniotic fluid. After counselling, the parents, who already had a girl with the salt-wasting form of 21-hydroxylase deficiency, wished termination of the pregnancy. The aborted 20-week-old fetus was within the normal range for gestational age in weight and height. The external genitalia were ambiguous and extremely virilized, with an enlarged clitoris and fused labioscrotal folds. A urogenital sinus opened at the base of the clitoris. The internal organs were female, with a normal uterus and ovaries. Both adrenals were normal in size and weight for their gestational age. Histological examination of the adrenals revealed no abnormalities, and no hyperplasia was detectable. Thus, the adrenals in the 21-hydroxylase defect during fetal life secrete excessive amounts of androgens and cause virilization in the absence of adrenocortical hyperplasia.