A Novel Mutation In Human Androgen Receptor Gene Causing Partial Androgen Insensitivity Syndrome In A Patient Presenting With Gynecomastia At Puberty.

CONCLUSION: The diagnosis of PAIS is based upon clinical phenotype and laboratory findings, and can be confirmed by detection of a defect in the AR gene. An accurate approach including a detailed family history suggesting an X-linked trait is an important clue to arrive at a quick diagnosis. PMID: 27087292 [PubMed - as supplied by publisher]
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research