Searchable abstracts of presentations at key conferences in endocrinology

ea0050p268 | Neuroendocrinology and Pituitary | SFEBES2017

Disorganised anterior pituitary ultrastructure in choriogonadotrophin-alpha (Cga) null female mice

Davies Jessica , Gergics Peter , Camper Sally , Christian Helen

Choriogonadotrophin-alpha (Cga) is one of the first molecular markers for the developing pituitary gland previously known as ‘alpha-subunit’, common to thyroid-stimulating hormone (TSH), luteinising hormone (LH) and follicle-stimulating hormone (FSH). Mice lacking Cga are hypogonadal and exhibit profound hypothyroidism and dwarfism. Light microscopy of Cga null mice has shown that pituitary thyrotrophs...

ea0050p268 | Neuroendocrinology and Pituitary | SFEBES2017

Disorganised anterior pituitary ultrastructure in choriogonadotrophin-alpha (Cga) null female mice

Davies Jessica , Gergics Peter , Camper Sally , Christian Helen

Choriogonadotrophin-alpha (Cga) is one of the first molecular markers for the developing pituitary gland previously known as ‘alpha-subunit’, common to thyroid-stimulating hormone (TSH), luteinising hormone (LH) and follicle-stimulating hormone (FSH). Mice lacking Cga are hypogonadal and exhibit profound hypothyroidism and dwarfism. Light microscopy of Cga null mice has shown that pituitary thyrotrophs...

ea0051oc4.4 | Oral Communications 4 | BSPED2017

The MAPK effector B-Raf is essential for hypothalamic-pituitary axis development and activating mutations in BRAF cause congenital hypopituitarism

Kyprianou Nikolina , Gregory Louise , Vignola Maria Lillina , Nichols James , Marinelli Eugenia , Gualtieri Angelica , Scagliotti Valeria , Besser Rachel , Camper Sally , Davis Shannon , Hogler Wolfgang , Temple Karen , Davies Justin H , Casado Pedro , Rajeeve Vinothini , Cutillas Pedro , Gevers Evelien , Dattani Mehul , Gaston-Massuet Carles

Germline mutations in BRAF and other components of the RAS/MAPK pathway are found in RASopathies, whose features include short stature and pubertal delay. The underlying mechanism of endocrinopathies in RASopathies has not been fully elucidated. We report four BRAF mutations (two of which are novel) in four children with congenital hypopituitarism and RASopathy features. To demonstrate the functional role of the variants we performed phosphoproteomic analyses...