• PMID: 30171759
• Gene Name: FGF13
• Condition: Abnormal sex determination, testis development, Male infertility
• Association: Associated
• Population size: 1
• Population details: 1 46, XX, SRY? male syndrome
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Abnormal sex determination, testis development, Male infertility

[Genetic analysis of a case of 46, XX, SRY? male syndrome]

Wang R.

OBJECTIVE: To identify the etiology of chromosome abnormality in an infertile man and analyze the correlation between the genotype and phenotype. METHODS: We analyzed the karyotype of an infertile male using the routine G-banding technique and then the chromosome abnormality of the patient by Illumina Human CytoSNP-12 Beadchip array. RESULTS: Negative results were found in the examination of the sex-determining region Y (SRY) gene and the STR locus in the AZF zone of the patient. The karyotype of the patient was 46, XX. SNP array showed a 1.05 Mb 19p12 duplication and a 0.93 Mb Xq27.1 duplication. CONCLUSIONS: The patient was confirmed as a case of 46,XX male syndrome. The increased copies of the FGF13 gene may be the major causes of abnormal sex determination and testis development.