摘要
报告３例对雄激素不敏感综合征患者，染色体核型虽为４６，ＸＹ，但均为女性表现型（或女性化不完全）。血清垂体促性腺激素升高、性激素（Ｔ、ＤＨＴ等）水平正常。以２３例年龄分别与患者相配伍的正常男性为对照，分析活检患者会阴部皮肤组织中的５α－还原酶Ⅰ型和Ⅱ型同工酶的活性、靶组织中雄激素（Ｔ、ＤＨＴ）的水平、雄激素受体的配基结合活性。结果表明，患者的５α－还原酶活性正常，但雄激素受体的配基结合能力缺陷，核内雄激素受体缺陷更明显，仅为６．１１～１３．２２ｆｍｏｌ／ｍｇ蛋白。因此，在对本病的诊断和治疗、临床与实验研究中，活检靶组织分析其雄激素受体是十分重要的。
Androgen insensitivity syndrome (AIS) is another type of male pseudohermaphraditism due to defects in the androgen receptor, in which androgen can′t play physiological roles. In this study, cases of AS aged 21, 27, 17 years were studied. Patients had male 46, XY sex chromosomes, but female phenotype or incomplete feminilism. The levels of serum gonadotrophin were raised, and serum androgen and estrogen were at normal level. Foreskins were taken from 23 normal male volunteers aged 17￣34 years at the time of circumcision as control. Genital skins were taken from 3 patients at the time of prosthetics of external genitalia. 5α Reductase isozymes Ⅰ and Ⅱ activities of patients were within the normal range of 4.91￣57.37 and 20.10￣174.86 DHT pmol formation/mg protein/ 30 min, respectively. The ligand binding activities of cytosol and nuclear androgen receptor of normal adults were 16.06±10.27( ±s) and 184.38±127.53 fmol/mg protein, whereas the values in 3 patients were much lower, the ligand binding activities of nuclear androgen receptor were only 6.11￣13.22 fmol/mg protein. So it was important that the ligand binding activities of androgen receptor of androgen target tissue should be assayed in the clinical diagnosis and laboratory study of AIS.
出处
《南京医科大学学报（自然科学版）》
CAS
CSCD
1997年第1期28-32,共5页
Journal of Nanjing Medical University(Natural Sciences)
关键词
男性
假两性畸形
不敏感综合征
雄激素受体
androgen insensitivity syndrome
androgen receptor
5α reductase activity
