Kauli R, Pertzelan A, Prager-Lewin R, Maimon Z, Ovadia J, Laron Z
Clin Genet. 1979 May;15(5):369-76. doi: 10.1111/j.1399-0004.1979.tb01768.x.
A girl of remarkably short stature, referred for investigation with the diagnosis of gonadal dysgenesis and the finding of a male karyotype, proved to be deficient in growth hormone and gonadotrophin secretion, and was treated with growth and sex hormones. It was concluded that this case demonstrates an apparently casual coincidence of pituitary insufficiency with XY gonadal dysgenesis, evidently the first to be reported.
一名身材异常矮小的女孩,因诊断为性腺发育不全并发现男性核型而前来接受检查,结果证明其生长激素和促性腺激素分泌不足,并接受了生长激素和性激素治疗。得出的结论是,该病例显示垂体功能不全与XY性腺发育不全明显偶然同时出现,显然这是首例有报道的病例。