The Long-Term Outcome of Boys With Partial Androgen Insensitivity Syndrome and a Mutation in the Androgen Receptor Gene

• DOI: 10.1210/jc.2016-1372
• Publication Date: 2016-07-12T19:08:43Z
• Authors: A. Lucas-Herald; S. Bertelloni; A. Juul; J. Bryce; J. Jiang; M. Rodie; R. Sinnott; M. Boroujerdi; M. Lindhardt Joha...; O. Hiort; P. M. Holterhus; M. Cools; G. Guaragna-Filho; G. Guerra-Junior; N. Weintrob; S. Hannema; S. Drop; T. Guran; F. Darendeliler; A. Nordenstrom; I. A. Hughes; C. Acerini; R. Tadokoro-Cuccaro; S. F. Ahmed
• Keywords: Gynecomastia; Androgen insensitivity syndrome

In boys with suspected partial androgen insensitivity syndrome (PAIS), systematic evidence that supports the long-term prognostic value of identifying a mutation in receptor gene (AR) is lacking. To assess clinical characteristics and outcomes young men PAIS relation to results AR analysis. Through International Disorders Sex Development Registry, information was gathered on having (n = 52) who presented before age 16 years had genetic analysis AR. The median ages at presentation time study were 1 month (range, day years) 22 52 years), respectively. Of cohort, 29 (56%) 20 different mutations reported. At diagnosis, external masculinization scores 7 6 cases without mutation, respectively (P .9), current 9 10, .28). Thirty-five (67%) required least one surgical procedure, those more likely require multiple surgeries for hypospadias .004). All an gynecomastia, compared 9% mutation. six mastectomy, five (83%) Boys genetically confirmed are have poorer outcome than XY DSD, normal T synthesis, identifiable Routine confirm informs prognosis management.