title: Precocious puberty in children with neurofibromatosis type 1.
abstract: We undertook a comprehensive study of children with neurofibromatosis type 1 (NF-1) cared for in a large multidisciplinary clinic to determine the prevalence of precocious puberty and its relationship to optic pathway tumors (OPTs). Precocious puberty was diagnosed in 7 of 219 children with NF-1 (5 boys and 2 girls) examined between Jan. 1, 1985, and April 20, 1993. All seven children had OPTs involving the optic chiasm; they represented 39% of children with NF-1 and chiasmal tumors (95% confidence interval, 17% to 64%). Eleven prepubertal children (aged 2 to 10 years) with NF-1 and OPTs, and age- and sex-matched NF-1 control subjects without OPTs, underwent luteinizing hormone-releasing hormone (LH-RH) stimulation tests. Two boys with OPTs had pubertal luteinizing hormone (LH) responses, and testosterone levels > 10 ng/dl. Basal LH levels were also elevated in these two boys when tested with a very sensitive immunochemiluminometric assay. None of the children without an OPT had either a pubertal response to LH-RH or an elevated basal LH level. We conclude that precocious puberty in children with NF-1 is found exclusively in those who have OPTs involving the optic chiasm; it is a common complication in those children. With the use of a highly sensitive LH assay, biochemical evidence of hypothalamic-pituitary-gonadal axis activation may be demonstrated, even without provocative testing.
authors.affiliation: Department of Pediatrics, Northwestern University Medical School, Children's Memorial Hospital, Chicago, Illinois.
authors.forename: R
authors.initials: R
authors.lastname: Habiby
authors.forename: B
authors.initials: B
authors.lastname: Silverman
authors.forename: R
authors.initials: R
authors.lastname: Listernick
authors.forename: J
authors.initials: J
authors.lastname: Charrow
mesh_terms: D002648:Child; D002675:Child, Preschool; D003390:Cranial Nerve Neoplasms / Q000097:blood / Q000150:complications* / Q000503:physiopathology; D004958:Estradiol / Q000097:blood; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D007987:Gonadotropin-Releasing Hormone / Q000494:pharmacology; D006801:Humans; D007030:Hypothalamo-Hypophyseal System / Q000187:drug effects; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D009456:Neurofibromatosis 1 / Q000097:blood / Q000150:complications* / Q000503:physiopathology; D009901:Optic Nerve Diseases / Q000097:blood / Q000150:complications* / Q000503:physiopathology; D010913:Pituitary-Adrenal System / Q000187:drug effects; D011446:Prospective Studies; D011629:Puberty, Precocious / Q000097:blood / Q000209:etiology* / Q000503:physiopathology; D012189:Retrospective Studies; D013739:Testosterone / Q000097:blood
chemical_list: D007987:Gonadotropin-Releasing Hormone; D013739:Testosterone; D004958:Estradiol; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone