ea0056p899 | Developmental endocrinology | ECE2018
Thoda Pinelopi
, Pappa Dimitra
, Sakali Anastasia-Konstantina
, Georgioy Eleni
, Gkountios Ioannis
, Bargiota Alexandra
Introduction: Noonan syndrome is a genetic disorder that usually occurs on a sporadic basis (de novo mutuations) or with autosomal dominant inheritance. Patients present with dysmorphic facial features, cardiac disorders and short stature. Delay of puberty can also be noted. We present here an adult case of Noonan syndrome.Presentation: A 25 years old male presented to our department with low stature, decreased libido and absence of any secondary sexual ...