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ea0027oc1.8 | Oral Communications 1 | BSPED2011

Mutations in PROKR2 but not PROK2 are associated with congenital hypopituitarism and septo-optic dysplasia

McCabe Mark , Gregory Louise , Gaston-Massuet Carles , Sbai Oualid , Rondard Philippe , Pfeifer Marija , Hulse Tony , Buchanan Charles , Pitteloud Nelly , Martinez-Barbera Juan-Pedro , Dattani Mehul

Introduction: Loss-of-function mutations in PROK2 and PROKR2 in humans have been associated with Kallmann syndrome (KS), characterised by the combination of hypogonadotrophic hypogonadism with anosmia, suggesting that both are critical for GnRH neuronal development.Objective: KS has overlapping phenotypes and genotypes through FGF8 and FGFR1 with congenital hypopituitarism including septo-optic dysplasia (SOD) and thus we aime...

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Endocrine Abstracts

Mutations in PROKR2 but not PROK2 are associated with congenital hypopituitarism and septo-optic dysplasia

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