Searchable abstracts of presentations at key conferences in endocrinology

ea0070aep764 | Pituitary and Neuroendocrinology | ECE2020

Combined pitutitary hormone deficiency in a patient with charge syndrome

Nikitas Skarakis Spyridon , Karachaliou Feneli , Mitrogiorgou Marina , Simatou Aristofania , Bountouvi Evangelia , Papaevangelou Vassiliki

Background: CHARGE is an autosomal-dominant syndrome which includes a variable combination of ocular coloboma, heart defects, atresia of the choanae, retardation of growth and development, and genitourinary and ear abnormalities CHARGE syndrome has rarely been associated with anterior pituitary dysfunction and with structural abnormalities of the pituitary gland only twice. We report the case of a child with CHARGE association and congenital hypopituitarism due to structural a...