Balducci R, Toscano V, Wright F, Bozzolan F, Di Piero G, Maroder M, Panei P, Sciarra F, Boscherini B
Clin Endocrinol (Oxf). 1985 Oct;23(4):439-44. doi: 10.1111/j.1365-2265.1985.tb01102.x.
Three sisters with male pseudohermaphroditism due to 17 beta-hydroxysteroid dehydrogenase deficiency are described. On the basis of a 46 XY karyotype and female phenotype all subjects were thought to have the testicular feminization syndrome. At puberty the two older patients developed signs of virilization and gynaecomastia. In these patients the plasma androstenedione level was 4-5 times higher than normal, whilst the plasma testosterone level was low compared to the normal range and, under basal conditions, their plasma androstenedione to testosterone ratio was 20-25 times higher than normal. Interestingly, in the third, prepubertal case, the basal androstenedione to testosterone ratio was normal but became six times higher than normal after hCG stimulation. These data support the diagnosis of male pseudohermaphroditism due to 17 beta-hydroxysteroid dehydrogenase deficiency and underline the diagnostic value of the hCG stimulation test prepubertally.
本文描述了三名因17β-羟类固醇脱氢酶缺乏导致男性假两性畸形的姐妹。基于46 XY核型和女性表型，所有受试者最初都被认为患有睾丸女性化综合征。青春期时，两名年龄较大的患者出现了男性化和男性乳房发育的体征。这些患者的血浆雄烯二酮水平比正常水平高4至5倍，而血浆睾酮水平低于正常范围，在基础条件下，其血浆雄烯二酮与睾酮的比值比正常水平高20至25倍。有趣的是，在第三个青春期前的病例中，基础雄烯二酮与睾酮的比值正常，但在人绒毛膜促性腺激素（hCG）刺激后比正常水平高六倍。这些数据支持了因17β-羟类固醇脱氢酶缺乏导致男性假两性畸形的诊断，并强调了青春期前hCG刺激试验的诊断价值。
