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Androgens drive male secondary sexual differentiation and maturation. Mutations in androgen receptor (AR) gene cause a broad spectrum of abnormal phenotypes in human, ranging from mild through partial to complete androgen insensitivity. We have analyzed AR gene using denaturing high performance liquid chromatography (DHPLC) and direct sequencing, and studied gonads histologically in a familial case of complete androgen insensitivity syndrome (CAIS). Sequence analysis of AR gene showed a novel C2578T missense mutation, resulting in the replacement of a highly conserved leucine residue with phenylalanine (L859F) in ligand binding domain of the receptor. The residue L859, located in helix 10 of androgen receptor plays a significant role in overall architecture of ligand binding pocket. The mutation was absent from the father, normal brother of the patients and 100 normal males recruited in this study as controls. The inheritance of the mutation in the family clearly shows that C2578T is the underlying mutation for the eventual phenotype in the patients. Histology of patient's gonads showed Leydig cell hyperplasia, with a few or no spermatogonium. It is thought that AR gene mutations result in hormonal imbalance, resulting in the high levels of LH and ultimately Leydig cell hyperplasia/tumor formation. In the present study, we have reported a rare familial case of Leydig cell hyperplasia despite consistently normal LH levels. The finding will help in giving counseling to this family and prevent the transmission of the mutated X chromosome to the coming generations.
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