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[Case Report] Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome and recurrent intrauterine fetal death

A 41-year-old woman was referred to our institute in Lyon in April, 2010, in her seventh pregnancy. She had had two miscarriages and three early intrauterine fetal deaths of male fetuses, and had given birth to a healthy girl in 2004. She had no history of autoimmune or inflammatory bowel disease, no signs of incontinentia pigmenti, and no bias in her leucocyte X-inactivation profile. She and her husband had a normal karyotype. Second trimester ultrasound scan showed a fetus with intrauterine growth retardation, hyperechogenic intestines, and hydrops fetalis, and at 24 weeks the fetus died in utero.