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© Research
Publication : PloS one

Minor hypospadias: the “tip of the iceberg” of the partial androgen insensitivity syndrome

Scientific Fields
Diseases
Organisms
Applications
Technique

Published in PloS one - 30 Apr 2013

Kalfa N, Philibert P, Werner R, Audran F, Bashamboo A, Lehors H, Haddad M, Guys JM, Reynaud R, Alessandrini P, Wagner K, Kurzenne JY, Bastiani F, Bréaud J, Valla JS, Lacombe GM, Orsini M, Daures JP, Hiort O, Paris F, McElreavey K, Sultan C

Link to Pubmed [PMID] – 23637914

PLoS ONE 2013;8(4):e61824

Androgens are critical in male external genital development. Alterations in the androgen sensitivity pathway have been identified in severely undermasculinized boys, and mutations of the androgen receptor gene (AR) are usually found in partial or complete androgen insensitivity syndrome (AIS).