Central precocious puberty and abnormal chromosomal patterns

Central precocious puberty (PP) can be caused by chromosomal aberrations. W e report three patients presenting with central PP in whom karyotype analys is demonstrated abnormal chromosomal patterns. The first patient was affect ed by the triple-X syndrome, commonly characterized by premature ovarian fa ilure. The second patient, a girl with inv dup(15)(pter-->q12::q12-->pter), had a chromosomal aberration involving an imprinted region of the human ge nome, whose deletion is commonly associated with Prader-Willi syndrome (PWS ) and hypogonadotrophic hypogonadism. The third patient was a boy carrying a rare chromosome abnormality, the duplication of chromosome 9 (q22-->qter) . All patients had mental retardation, which was mild in patient 1, moderat e in patient 2, and severe in case 3. They underwent treatment with luteini zing hormone releasing hormone (LHRH) analogs, which were able to stop the progression of the sexual development. We confirm that chromosomal aberrati ons are an important cause of central PP, and that karyotype analysis in pa tients with PP and mental retardation, even if mild, is necessary because c hromosomal abnormalities can be present.