Endocrine function and diagnostic problems in a prepubertal case of 48,XXYY.
A five-year-old 48,XXYY boy with normal external genitalia, slight bone anomalies and mild mental retardation is described. An endocrine examination revealed normal values with the possible exception of a slight increase of the LH values and the LH response to LH-RH stimulation.
D001842:Bone and Bones / Q000002:abnormalities; D002675:Child, Preschool; D004261:DNA Replication; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D012729:Sex Chromosome Aberrations / Q000097:blood / Q000235:genetics*; D012730:Sex Chromosomes; D013739:Testosterone / Q000097:blood; D013974:Thyroxine / Q000097:blood; D014284:Triiodothyronine / Q000097:blood; D014960:X Chromosome; D014998:Y Chromosome
D014284:Triiodothyronine; D013739:Testosterone; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone; D013974:Thyroxine