• PMID: 7726236
• Gene Name: SRY
• Condition: Male sexual differentiation
• Association: Associated
• Mutation: 46,XX male
• Population size: 1
• Population details: 1 46,XX male patient without genital ambiguities
• Sex: Male
• Infertility type: Male infertility
• Associated genes: SRY
• Other associated phenotypes: Male sexual differentiation

SRY alone can induce normal male sexual differentiation

López M, Torres L, Méndez JP, Cervantes A, Alfaro G, Pérez-Palacios G, Erickson RP, Kofman-Alfaro S.

Most individuals with the rare 46,XX male "syndrome" arise due to an unequal interchange between Xp and Yp termini during paternal meiosis. The pattern of Y-sequences in these patients varies considerably, but very few cases have been reported showing only SRY. The phenotype in these patients is also variable ranging from severe impairment of the external genitalia through hypospadias and/or cryptorchidism to occasional normal male phenotype. We report a Mexican 46,XX male patient without genital ambiguities in whom DNA analysis showed the presence of SRY and the absence of ZFY. We conclude that in this case SRY alone was enough for complete male sexual differentiation. FAU - López, M AU - López M AD - Servicio Genética, HGM SSa, Facultad de Medicina, UNAM, Mexico. FAU - Torres, L AU - Torres L FAU - Méndez, J P AU - Méndez JP FAU - Cervantes, A AU - Cervantes A FAU - Alfaro, G AU - Alfaro G FAU - Pérez-Palacios, G AU - Pérez-Palacios G FAU - Erickson, R P AU - Erickson RP