一例因17α-羟化酶/17,20-裂解酶联合缺乏导致男性假两性畸形的16-烯合成酶缺乏症病例。

A case of 16-ene-synthetase deficiency in male pseudohermaphroditism due to combined 17 alpha-hydroxylase/17,20-lyase deficiency.

作者信息

Oei S G, Derksen J, Weusten J J, Lentjes E G, Helmerhorst F M

机构信息

Department of Obstetrics, Gynaecology and Reproductive Medicine, University Hospital Leiden, The Netherlands.

出版信息

Eur J Endocrinol. 1995 Mar;132(3):281-5. doi: 10.1530/eje.0.1320281.

DOI:10.1530/eje.0.1320281

PMID:7889174

Abstract

A 17-year-old phenotypic female with primary hypergonadotropic amenorrhea, absence of secondary sexual development, hypertension and 46 XY karyotype is presented. Hormonal analysis revealed very low levels of testosterone, dehydroepiandrosterone, androstenedione, estrogens, cortisol and high levels of ACTH, progesterone, deoxycorticosterone and corticosterone. Enzyme studies of the testicular tissue after bilateral gonadectomy showed absence of 17 alpha-hydroxylase and 17,20-lyase activity as well as 16-ene-synthetase activity. This enzyme catalyzes the reaction from pregnenolone to 5,16-androstadien-3 beta-ol, a sex pheromone precursor. The other enzyme systems leading from pregnenolone to testosterone were intact. This is the first report of male pseudohermaphroiditism in which the combination of 17 alpha-hydroxylase, 17,20-lyase and 16-ene-synthetase deficiency is described, indicating that all these activities might be associated with the same protein.

摘要

本文报道了一名17岁的表型女性，患有原发性高促性腺激素性闭经，缺乏第二性征发育，伴有高血压，核型为46 XY。激素分析显示睾酮、脱氢表雄酮、雄烯二酮、雌激素、皮质醇水平极低，促肾上腺皮质激素、孕酮、脱氧皮质酮和皮质酮水平升高。双侧性腺切除术后对睾丸组织进行的酶学研究显示缺乏17α-羟化酶和17,20-裂解酶活性以及16-烯合成酶活性。这种酶催化孕烯醇酮转化为5,16-雄二烯-3β-醇的反应，5,16-雄二烯-3β-醇是一种性信息素前体。从孕烯醇酮到睾酮的其他酶系统均完整。这是首次报道男性假两性畸形，其中描述了17α-羟化酶、17,20-裂解酶和16-烯合成酶缺乏的组合，表明所有这些活性可能与同一种蛋白质相关。