Saldanha P H, Arnhold I J, Mendonça B B, Bloise W, Toledo S P
Am J Med Genet. 1987 Feb;26(2):337-44. doi: 10.1002/ajmg.1320260212.
We report on a kindred including a patient (46,XY) with typical manifestations of Leydig cell hypoplasia who was born to parents who were first cousins. A sister had secondary amenorrhea possibly due to primary ovarian dysfunction. Analysis of six pedigrees fits to a male-limited autosomal recessive pattern of inheritance; its implication for the mutational dynamics in the populations is evaluated.
我们报告了一个家族，其中一名患者（46，XY）患有典型的莱迪希细胞发育不全表现，其父母为近亲。一名姐妹有继发性闭经，可能是由于原发性卵巢功能障碍。对六个家系的分析符合男性限性常染色体隐性遗传模式；评估了其在人群中对突变动态的影响。
