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 ...

hrp0089fc9.5 | Pituitary, neuroendocrinology and Puberty 1 | ESPE2018

National Multidisciplinary Decision-Making Guideline for Children and Young People (Idiopathic Thickened Pituitary Stalk and/or Idiopathic Central Diabetes Insipidus

Cerbone Manuela , Bulwer Chloe , Ederies Ashraf , Vallabhaneni Kirtana , Ball Stephen , Kamaly Ian , Grossman Ashley , Gleeson Helena , Korbonits Marta , Nanduri Vasanta , Tziaferi Vaya , Jacques Tom , Visser Johannes , Spoudeas Helen A

Background: Thickening of the Pituitary Stalk (TPS) and/or Central Diabetes Insipidus (CDI) can occour in isolation or synchronously/metachronously in the same patient. Due to their rarity and wide spectrum of underlying aetiologies they represent a diagnostic and management conundrum.Aim: To develop a high-quality national multidisciplinary guideline for the assessment and management of children and young people (CYP) before their 19th birthd...