hrp0082fc14.3 | Puberty | ESPE2014

Novel Genetic Variants in a Cohort of Paediatric and Adolescent Patients with Hypogonadotrophic Hypogonadism and Kallmann Syndrome

Gregory Louise , McCabe Mark , Bancalari Rodrigo , Tziaferi Vaya , Spoudeas Helen , Dattani Mehul

Background: Hypogonadotrophic hypogonadism (HH) is a complex developmental disorder characterized by a reduction in gonadotrophins (LH, FSH) released from the anterior pituitary. LH and FSH stimulate the ovaries or testes to release sex hormones that cause the onset of puberty, therefore delay in onset or complete absence of puberty is seen in the phenotype, often accompanied by short stature and genital abnormalities. When anosmia accompanies HH in the phenotype it is termed ...

hrp0084fc11.3 | Neuroendocrinology | ESPE2015

Next Generation Sequencing: Towards a new Clinical Frontier in the Diagnosis and Management of Pituitary Tumours

McCabe Mark , Cowley Mark , Tao Jiang , Dias Kerith-Rae , Thompson Tanya , Dinger Marcel , McCormack Ann

Background: In the past few years, new genes involved with familial predisposition to pituitary tumour development have been recognised, including AIP and SDHx. These factors are likely to underestimate the occurrence of familial pituitary tumour predisposition, commonly thought to account for 5% of all pituitary tumours. Furthermore, the clinical management of aggressive pituitary tumours is challenging, particularly when tumours exhibit resistance to standa...