ea0032p830 | Pituitary–Basic (<emphasis role="italic">Generously supported by IPSEN</emphasis>) | ECE2013
Auriemma Renata S
, Macchiaroli Annamaria
, Kelberman Daniel
, Faienza Maria F
, Corona Rosalia
, Mariano Iolanda
, Giangiobbe Sara
, Galdiero Mariano
, Pivonello Rosario
, Colao Annamaria
, Gasperi Maurizio
Introduction: Anophthalmia/microphthalmia is a rare developmental craniofacial defect often associated to congenital hypopituitarism with GH deficiency and hypogonadism. SOX2 gene plays a key role in embryonic development regulation and heterozygous mutations of this gene, reported only in 14 patients to date, have been associated to anophthalmia/microphthalmia and congenital hypopituitarism in uo to 10% of cases. Therefore, the study of the SOX2 gene can be clinically useful ...