ESPE Abstracts

45,X/47,XYY mosaicism is quite rare, and, like 45,X/46,XY, it can be associated with mixed gonadal dysgenesis, Turner syndrome or apparently normal male/female phenotype. An infant aged 16 days, born full-term via spontaneous vaginal delivery to a 32 year-old G1P1 woman. His pregnancy and perinatal period were both uncomplicated except for maternal long QT syndrome. There was third degree cousin consanguinity between the parents. There was no any virilizing drug use and no mat...

Background: Although it is known that hypoglycaemia could cause severe negative effects on brain development and also infantile spasm, it has not been reported that transient hyperinsulinaemic hypoglycaemia, which spontaneously improves over a short time, may cause infantile spasms. Infantile spasm is a disorder of early childhood typically seen in first year of life characterized by the occurrence of sudden, brief, generally bilateral and symetric motor spasms of muscles of t...