TY - CHAP M1 - Book, Section TI - Disorders of Sexual Differentiation A1 - Fallat, Mary E. A1 - Chun, Jeannie A2 - Ziegler, Moritz M. A2 - Azizkhan, Richard G. A2 - Allmen, Daniel von A2 - Weber, Thomas R. Y1 - 2014 N1 - T2 - Operative Pediatric Surgery, 2e AB - The infant born with the greatest discordance between genetic sex and phenotypic appearance is at most risk for psychological consequences as a result of confusion of gender identity.Congenital adrenal hyperplasia (CAH) or the adrenogenital syndrome due to excessive endogenous androgen production in genetic females is the main cause of masculinization of the external genitalia in 46XX individuals.Mutations of variable type and severity in the AR gene result in a spectrum of forms of the androgen insensitivity syndrome (AIS), the most common cause of a male DSD.An abnormality of the sex chromosomes usually results in failed, incomplete, or asymmetric gonadal differentiation.Female and male DSD disorders (DSDs) have symmetric gonads, and ovotesticular DSDs or children with mixed gonadal dysgenesis have asymmetric gonads.Female children with DSD and most children with ovotesticular DSD are chromatin positive and lack a fluorescent Y. A fluorescent Y chromosome is found in children with male DSD and mixed gonadal dysgenesis. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accesssurgery.mhmedical.com/content.aspx?aid=1100437178 ER -