Do some patients with fragile X syndrome have precocious puberty?
We report on an 8 1/2-year-old white girl with fra (X) syndrome; she had mental deficiency, hyperactivity, speech disturbances, slightly prominent ears, mild joint laxity and 20% fra (X) expression. Additional findings include idiopathic precocious puberty and a right ovarian cyst. Ovarian cysts have been reported previously in heterozygous females, but to our knowledge idiopathic precocious puberty is a new finding in this syndrome. Whether precocious puberty is a coincidental finding in this patient or a previously unreported manifestation of the fra (X) syndrome is not clear.
Butler
M G
MG
Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, Tennessee 37232.
Najjar
J L
JL
D005260:Female; D005600:Fragile X Syndrome / Q000150:complications*; D006579:Heterozygote; D006801:Humans; D011629:Puberty, Precocious / Q000150:complications*; D012729:Sex Chromosome Aberrations / Q000150:complications*