TY - JOUR
T1 - McCune-Albright syndrome
T2 - A longitudinal clinical study of 32 patients
AU - De Sanctis, Carlo
AU - Lala, Roberto
AU - Matarazzo, Patrizia
AU - Balsamo, Antonio
AU - Bergamaschi, Rosalba
AU - Cappa, Marco
AU - Cisternino, Mariangela
AU - De Sanctis, Vincenzo
AU - Lucci, Marco
AU - Franzese, Adriana
AU - Ghizzoni, Lucia
AU - Pasquino, Anna Maria
AU - Segni, Maria
AU - Rigon, Franco
AU - Saggese, Giuseppe
AU - Bertelloni, Silvano
AU - Buzi, Fabio
PY - 1999
Y1 - 1999
N2 - 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.
AB - 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.
KW - Bone fibrous dysplasia
KW - Cutaneous cafe-au-lait spots
KW - McCune-Albright syndrome
KW - Precocious puberty
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M3 - Article
C2 - 10614538
AN - SCOPUS:12944253120
VL - 12
SP - 817
EP - 826
JO - Journal of Pediatric Endocrinology and Metabolism
JF - Journal of Pediatric Endocrinology and Metabolism
SN - 0334-018X
IS - 6
ER -