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A novel mutation of the human luteinizing hormone receptor in 46XY and 46XX sisters.
(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. ...
5α-Reductase-2 gene mutations in the Dominican Republic .
(Journal of Clinical Endocrinology and Metabolism, 1996)
Male pseudohermaphroditism due to 5α-reductase deficiency was clinically and biochemically described in a large Dominican kindred of 23 families with 38 affected subjects in 1974. Recently, the 5α-reductase-2 gene defect ...