Barmach de Niepomniszcze A, Rivarola M A, Chemes H E, Bergadá C
Acta Endocrinol (Copenh). 1982 Apr;99(4):624-9. doi: 10.1530/acta.0.0990624.
A study of steroid metabolism by a tumour of the specific gonadal stroma was carried out in a 10 year old boy. Tumours developed in the two testes from multiple foci, and clinically, no signs of sexual development were evident. Four testicular enzymes necessary for testosterone biosynthesis were estimated in the child, in two adult controls, and in three pre-pubertal boys with male pseudohermaphroditism but normal tests of Leydig cell function. 17 alpha-Hydroxylase and 17 beta-hydroxysteroid dehydrogenase were similar in the five controls and in the gonad with the tumour, while 17,20-desmolase and 3 beta-hydroxysteroid dehydrogenase were grossly deficient in the child with the tumour. These enzyme deficiencies might explain the absence of peripheral virilization in a boy with a tumour of Leydig and Sertoli cells.
对一名10岁男孩的特定性腺间质肿瘤的类固醇代谢进行了研究。双侧睾丸出现多个病灶肿瘤,临床上无性发育迹象。对该患儿、两名成年对照者以及三名患有男性假两性畸形但睾丸间质细胞功能正常的青春期前男孩,测定了睾酮生物合成所需的四种睾丸酶。五个对照组以及患肿瘤性腺中的17α-羟化酶和17β-羟类固醇脱氢酶相似,而患肿瘤患儿中的17,20-碳链酶和3β-羟类固醇脱氢酶严重缺乏。这些酶的缺乏可能解释了患有睾丸间质细胞和支持细胞肿瘤的男孩外周无男性化表现的原因。