hrp0084p2-550 | Puberty | ESPE2015

Short Stature with Neurodevelopmental Delay in Familial Variant Turner Syndrome

Chetan Madhurima , Puthi Vijith

Background: Turner syndrome (TS) is classically a sporadic cause of short stature and gonadal dysgenesis in girls. We report familial variant TS affecting twelve individuals of both sexes over three generations. Affected children manifest short stature and varying degrees of neurodevelopmental disorder but no visceral abnormalities.Case presentation: A 27-year-old female in her 12th pregnancy presented for 20-week ultrasound. Fetal cardiac and...