Saenger P, Goldman A S, Levine L S, Korth-Schutz S, Muecke E C, Katsumata M, Doberne Y, New M I
J Clin Endocrinol Metab. 1978 Apr;46(4):627-34. doi: 10.1210/jcem-46-4-627.
The diagnosis of 5 alpha-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, urogenital sinus, 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 5 beta-T metabolites in urine (8.1 and 6.0 vs. normal, less than 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 [14 C] T to 5 alpha-reduced metabolites by nongenital skin fibroblasts (2.2 and 1.9 pmol/microgram DNA/nmol substrate vs. 68.4+/- 7.8 Pmol/microgram 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 a defect in T metabolism rather in in T binding is demonstrated by the observation that binding of [3H]DHT to cytosol of skin fibroblasts was normal (4.2 dpm/micrograms DNA vs. normal male values of 3.7 +/- 0.64). Thus, the present report suggests that 5 alpha-reductase deficiency can be diagnosed during childhood and even after castration by metabolic studies of nongenital skin fibroblasts and determination of the conversion ratio of [3H]T to [3H]DHT in plasma.
两名青春期前男性假两性畸形（MPH）患者被确诊为5α-还原酶缺乏症。两人核型均为46,XY，自幼按女性抚养；其中一名患儿在婴儿期已行阉割术。两人均有阴蒂肥大、泌尿生殖窦及短阴道囊；其中一人腹股沟可触及性腺。通过观察五个参数的特征性变化进行生化诊断：1）人绒毛膜促性腺激素（hCG）刺激后睾酮与双氢睾酮（T:DHT）比值异常升高（分别为35和53，正常对照为11±3）；2）尿中5β-T代谢产物异常升高（分别为8.1和6.0，正常对照小于1）；3）[3H]T输注期间T向DHT的转化不足（分别为0.3%和0.4%，正常对照为5.3±3%）；4）非生殖器皮肤成纤维细胞将[14C]T转化为5α-还原代谢产物不足（分别为2.2和1.9 pmol/μg DNA/nmol底物，正常对照为68.4±7.8 pmol/μg DNA/nmol底物）；5）生殖器皮肤切片中[14C]T向DHT的转化不足。[3H]DHT与皮肤成纤维细胞胞质溶胶的结合正常（4.2 dpm/μg DNA，正常男性对照值为3.7±0.64），这一观察结果表明该综合征是T代谢缺陷而非T结合缺陷。因此，本报告提示，通过非生殖器皮肤成纤维细胞的代谢研究及测定血浆中[3H]T向[3H]DHT的转化率，5α-还原酶缺乏症在儿童期甚至阉割术后均可诊断。
