• A novel mutation of the human luteinizing hormone receptor in 46XY and 46XX sisters. 

      Stavrou, Stavros S.; Zhu, Yuan Shan; Cai, LiQun; Katz, Melissa D.; Herrera, Cecilia; Defilló Ricart, Mariano; Imperato McGinley, J. (Journal of Clinical Endocrinology and Metabolism, 1998)
      We repor t a novel homozygous mutation of the LH receptor (LHR) gene in three siblings: two 46XY and one 46XX. The 46XY siblings presented with female external genitalia, primary amenorrhea, and lack of breast development. ...