Author:

Keywords:

46, XX testicular disorders of sex development, genes, SRY, sex differentiation, tandem repeat sequences, amelogenin, 46, XX Disorders of Sex Development, Adult, Amelogenin, Chromosome Deletion, Chromosomes, Human, Y, Electrophoresis, Capillary, Genes, sry, Genitalia, Male, Genotype, Humans, In Situ Hybridization, Fluorescence, Infertility, Male, Karyotyping, Kruppel-Like Transcription Factors, Male, Microsatellite Repeats, Nucleic Acid Amplification Techniques, Pedigree, Polymerase Chain Reaction, Sex Chromosome Aberrations, Sex Chromosome Disorders of Sex Development, Tropical Medicine

Abstract:

In most cases, male sexual differentiation occurs with SRY gene mediation. However, exceptional genotypes have been identified, as shown in this paper. This was a male adult patient seen at the Servicio de Paternidades, Instituto de Genética, Universidad Nacional de Colombia. The following procedures were carried out: Amelogenin gene and short tandem repeat analyses using human identification commercial kits, conventional karyotype, SRY fluorescent in situ hybridization, PCR analysis for Y chromosome microdeletions, clinical evaluation, and genetic counseling. We present an adult male with unambiguous genitalia, karyotype 46,XX, and an SRY negative and ZFY positive molecular profile. The diagnosis of nonsyndromic 46,XX testicular disorder of sex development (DSD) -a rare genetic condition- was established. Only 20 % of similarly diagnosed patients are SRY negative and exhibit diverse molecular profiles. Until now, available evidence seems to indicate that, even in the absence of SRY, the ZFY factor is involved in male sexual differentiation.