Youlton R, Michelsen H, Be C, Cruz-Coke R
Clin Genet. 1982 Apr;21(4):262-5. doi: 10.1111/j.1399-0004.1982.tb00760.x.
Pure gonadal dysgenesis has been described in several sibships. We report a pair of monozygous twins and their younger sister with secondary amenorrhea. They had no associated congenital anomalies. Plasma FSH levels were elevated and the ovarian biopsies showed absence of follicular structures. Their karyotypes were 46XX, further supporting the concept that his form of familial gonadal dysgenesis is an autosomal recessive defect.
纯性腺发育不全已在多个同胞家族中被描述。我们报告了一对单卵双胞胎及其患有继发性闭经的妹妹。她们没有相关的先天性异常。血浆促卵泡激素水平升高，卵巢活检显示无卵泡结构。她们的核型为46，XX，进一步支持了这种家族性腺发育不全形式是常染色体隐性缺陷的概念。
