Prepubertal Diagnosis of Steroid 5α-Reductase Deficiency
Prepubertal Diagnosis of Steroid 5α-Reductase Deficiency
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类固醇 5α-还原酶缺乏症的青春期前诊断
DOI：
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发表时间：
1978
期刊：
影响因子：
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通讯作者：
M. New
中科院分区：
文献类型：
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作者：
P. Saenger;A. Goldman;L. Levine;S. Schutz;E. Muecke;M. Katsumata;Y. Doberne;M. New
2例青春期前男性假两性畸形（MPH）患者被诊断为5α-还原酶缺乏症。两人的核型都是46-XY，都是作为女性抚养的;其中一个孩子在婴儿期就被阉割了。两例患者均有阴蒂肥大、尿生殖窦和短阴道囊，1例可触及腹股沟性腺。通过观察五个参数的特征性变化进行生化诊断：1）异常高睾酮对双氢睾酮（T：hCG刺激后DHT）比值（35和53 vs正常，11 ± 3），2）尿液中异常高的5β/5α-T代谢产物（8.1和6.0 vs.正常，<1），3）[3 H]T输注期间T向DHT的转化不足（0.3和0.4% vs正常，5.3 ± 3），4）非生殖器皮肤成纤维细胞将[14 C]T转化为5α-还原代谢物的缺陷（2.2和1.9 pmol/μ g DNA/nmol底物与正常对照的68.4 ± 7.8 pmol/μ g DNA/nmol底物），和5）生殖器皮肤切片中[14 C]T向DHT的转化不足。事实上，这种综合症代表着...
The diagnosis of 5α-reductase deficiency was proven in two prepubertal patients with male pseudohermaphroditism (MPH). Both had a 46-XY karyotype and were reared as females; one child had been castrated in infancy. Clitoromegaly, urogenitalsinus, and short vaginal pouch were present in both; inguinal gonads were palpable in one. The diagnosis was made biochemically by observing characteristic changes in five parameters: 1) abnormally high testosterone to dihydrotestosterone (T:DHT) ratio after hCG stimulation (35 and 53 vs. normal, 11 ± 3), 2) abnormally high 5β/5α-T metabolites in urine (8.1 and 6.0 vs. normal, <1), 3) deficient conversion of T to DHT during [3H]T infusion (0.3 and 0.4% vs. normal, 5.3 ± 3), 4) deficient conversion of [14C]T to 5α-reduced metabolitesby nongenital skin fibroblasts (2.2 and 1.9 pmol/μg DNA/nmol substrate vs. 68.4 ± 7.8 pmol/μg DNA/nmol substrate in normal controls), and 5) deficient conversion of [14C]T to DHT in genital skin slices. The fact that this syndrome represents ...