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ea0032p830 | Pituitary–Basic (<emphasis role="italic">Generously supported by IPSEN</emphasis>) | ECE2013

Mutations of SOX2 gene: a novel heterozygous mutation and impact on congenital hypopituitarism

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 ...

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Mutations of SOX2 gene: a novel heterozygous mutation and impact on congenital hypopituitarism

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