Documente Academic
Documente Profesional
Documente Cultură
C. Badiu, G. Madaras
National Institute of Endocrinology
Bucharest
Prader-Willi Syndrome...
▼▼▼▼▼
Prader A, Labhart A, Willi H. Schweiz. Med. Wochenschr 1956; 86: 1260–1.
Diagnosis…
• Prenatal
= reduced fetal movement and polyhydramnios
= genetic testing (chorionic villous sampling)
= amniocentesis
• Postnatal
= clinical features
= confirmed by genetic testing
Genetic testing….
• deletion
/other abnormal finding on
chromosome 15q11-q13
= 70% (paternal deletion)
► GnRH deficiency
(central)
► primary gonadal
damage (peripheral)
retarded or incomplete
sexual development
Puberty in PWS
Brambilla P et al., Metabolic syndrome in children with Prader Willi syndrome: the effect of
obesity, Nutr Metab Cardiovasc Dis (2009), doi:10.1016/j.numecd.2009.10.004
Endocrine obesity
mTOR
AMPK
probleme Medic
Familia Copil / Pacient
cotidiene Specialist
Genetician Nutritionist
MS / DSP