title: McCune-Albright syndrome: a longitudinal clinical study of 32 patients.
abstract: We report the diagnostic clinical features and their long term evolution in 32 patients with McCune-Albright syndrome. Patient data are made up of two periods: the first, classified as personal history, is from birth until the time when the diagnosis of McCune-Albright syndrome was made; the second, classified as clinical observation, is from the first observation until the end of follow up. The total duration of these two periods was 9.6+/-2.9 yr; mean age at first observation was 5.7 yr (range 0.7-11 yr). The probability of manifesting main clinical signs according to age was calculated: almost all had skin dysplasia at birth, 50% probability of peripheral precocious puberty in females at 4 years and 50% of bone dysplasia at 8 years of age were found. Other clinical signs had diagnostic relevance when preceding the main signs leading to diagnosis of McCune-Albright syndrome even without specific genetic investigation. The most important clinical manifestations have different evolutions: skin lesions increase in dimensions according to body growth; precocious puberty in females evolves rapidly but periods of regression can be seen in some patients; bone dysplasia in most patients evolves with an increase both in the number of affected bones and in the severity of lesions.
authors.affiliation: Divisione di Endocrinologia Pediatrica, Ospedale Regina Margherita, Torino, Italy.
authors.forename: C
authors.initials: C
authors.lastname: de Sanctis
authors.forename: R
authors.initials: R
authors.lastname: Lala
authors.forename: P
authors.initials: P
authors.lastname: Matarazzo
authors.forename: A
authors.initials: A
authors.lastname: Balsamo
authors.forename: R
authors.initials: R
authors.lastname: Bergamaschi
authors.forename: M
authors.initials: M
authors.lastname: Cappa
authors.forename: M
authors.initials: M
authors.lastname: Cisternino
authors.forename: V
authors.initials: V
authors.lastname: de Sanctis
authors.forename: M
authors.initials: M
authors.lastname: Lucci
authors.forename: A
authors.initials: A
authors.lastname: Franzese
authors.forename: L
authors.initials: L
authors.lastname: Ghizzoni
authors.forename: A M
authors.initials: AM
authors.lastname: Pasquino
authors.forename: M
authors.initials: M
authors.lastname: Segni
authors.forename: F
authors.initials: F
authors.lastname: Rigon
authors.forename: G
authors.initials: G
authors.lastname: Saggese
authors.forename: S
authors.initials: S
authors.lastname: Bertelloni
authors.forename: F
authors.initials: F
authors.lastname: Buzi
mesh_terms: D002648:Child; D002675:Child, Preschool; D005260:Female; D005359:Fibrous Dysplasia, Polyostotic / Q000175:diagnosis / Q000473:pathology*; D006801:Humans; D007223:Infant; D008137:Longitudinal Studies; D008297:Male