Malformed genitalia in the 47,XYY genotype.
A 5 10/12 year-old boy with a 47,XYY karyotype, micropenis, scrotal hypospadias and right testicular regression is described. Normal for age basal plasma testosterone levels which increased after hCG stimulation were interpreted as an adequate response of the left testicular Leydig cells. The review of similar cases did not permit definite conclusions concerning the relationship between the abnormal genitalia and the XYY karyotype.
D000782:Aneuploidy; D002675:Child, Preschool; D005837:Genitalia, Male / Q000002:abnormalities*; D006801:Humans; D007021:Hypospadias / Q000235:genetics; D007621:Karyotyping; D008297:Male; D010413:Penis / Q000002:abnormalities; D012611:Scrotum / Q000002:abnormalities; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D013737:Testis / Q000002:abnormalities; D014998:Y Chromosome