Artículos de revistas
Activating GNAS1 gene mutations in patients with premature thelarche
Fecha
2004Registro en:
Journal of Pediatrics, Volumen 145, Issue 2, 2018, Pages 218-222
00223476
10.1016/j.jpeds.2004.05.025
Autor
Román, Rossana
Johnson, María Cecilia
Codner Dujovne, Ethel
Boric Scarpa, María Angélica
Ávila, Alejandra
Cassorla Goluboff, Fernando
Institución
Resumen
Objective To identify GNAS1 gene mutations in girls with exaggerated and/or chronic fluctuating thelarche for at least 1-year duration with no other signs of precocious puberty, skeletal dysplasia, or typical skin lesions of McCune-Albright syndrome. Study design We studied the GNAS1 gene mutation by allele-specific polymerase chain reaction and enzymatic digestion in leukocyte DNA in 23 girls previously described. Results Fluctuating thelarche was present in 14 girls and exaggerated thelarche was observed in 9. Molecular study revealed that 6 girls had a substitution of arginine by histidine in codon 201 (R201H [+]). Three R201H (+) girls reached their menarche at a mean chronologic age of 10.8 years and 9 of the R201H (-) girls at a mean age of 11 years. Conclusions Activating mutations of GNAS1 gene may be observed in some girls with chronic fluctuating and/or exaggerated thelarche, without other classic signs of McCune-Albright syndrome.