摘要
５α－还原酶缺乏症是一种罕见的性别分化异常病，临床表现为男性假两性畸形。本文将外阴皮肤组织５α－还原酶活性的测定及雄激素受体的分析技术应用于临床实践，结合激素测定和人绒毛膜促性腺激素（ｈＣＧ）刺激试验，以１２例正常同年龄组的男性为对照，发现２例男性假两性畸形患者睾酮（Ｔ）正常水平而双氢睾酮（ＤＨＴ）低下，经ｈＣＧ刺激后睾酮（Ｔ）水平随时相增加而双氢睾酮维持在低水平；虽然雄激素受体的配基结合活性基本正常，但５α－还原酶Ⅱ型同功酶活性明显缺陷，从而从病因学上诊断为５α－还原酶缺乏症。
Steroid 5α reductase plays a central role in androgen action by catalyzing the conversion of testosterone (T) into the more potent hormone dihydrotestosterone (DHT). Failure to synthesize DHT in androgen target tissues, during male fetal sexual differentiation and development, manifests a rare form of male pseudohermaphroditism, termed 5α reductase deficiency, in which the male (46, XY) external genitalia differentiate as female structures. We studied 2 patients of 13 and 6.5 ys age with 5α reductase deficiency and 12 normal men at same age ranges in clinical and laboratory diagnosis. Comparing with normal men, 2 patients had normal T level, but lower DHT level, in blood and target tiscues, genitalia skins. T level of patients raised rapidly after hCG stimulation, while DHT level keep on low level and T/DHT ratio would more raised. Although normal ligand binding capacity of androgen receptor and normal activity of 5α reductase isozyme Ⅰ, the patients had much lower activity of isozyme Ⅱ. So they may be diagnosed as 5α reductase deficiency on pathophysiology, and diagnosed differentially from other male pseudohermaphroditism, such as androgen insensitive syndrogen due to defect of androgen receptor.
出处
《南京医科大学学报（自然科学版）》
CAS
CSCD
1996年第5期437-441,共5页
Journal of Nanjing Medical University(Natural Sciences)
