The sex reversal syndrome (the XX male patient).
Prenatal amniocentesis performed for advanced maternal age demonstrated a 46XX female karyotype. At birth, however, the infant was noted to be a phenotypic male with descended testes and severe chordee without hypospadias. Chromosomal analysis confirmed a female karyotype, while later surgical exploration revealed normal internal wolffian duct structures.
D001706:Biopsy; D012734:Disorders of Sex Development / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D012730:Sex Chromosomes; D013577:Syndrome; D013737:Testis / Q000473:pathology