Volume 82 | ESPE2014 | Next issue

ESPE 2014

Dublin, Ireland
18 Sep 2014 - 20 Sep 2014

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Dublin, Ireland; 18-20 September 2014. Further information

hrp0082fc11.1 | Pituitary | ESPE2014

Abnormal Sonic Hedgehog Signalling in Adamantinomatous Craniopharyngiomas and its Association with CTNNB1/β-Catenin Mutations

Gomes Debora C , Jamra Soraya A , Leal Leticia F , Colli Leandro M , Juca Carlos E , Campanini Marina L , Oliveira Ricardo S , Martinelli Carlos E , Elias Paula C L , Saggioro Fabiano , Machado Helio R , Moreira Ayrton C , Serafini Luciano N , Castro Margaret , Antonini Sonir R

Background: The sonic hedgehog pathway (SHH) regulates CNS development and mutations or abnormal expression of the SHH pathway genes have been identified in epithelial tumors. SHH pathway interacts with Wnt/β-catenin signalling. To date, CTNNB1/β-catenin mutations are the sole molecular abnormality found in adamantinomatous craniopharyngiomas (ACPs).Objective and Hypotheses: To analyze the expression pattern of SHH pathway genes in ACPs and its...

hrp0082fc11.2 | Pituitary | ESPE2014

Novel SOX2 Mutation: Identification of New Molecular Mechanisms of SOX2 Action and Interactions

Alatzoglou Kyriaki S. , Andoniadou Cynthia L. , Kelberman Daniel , Kim Hyoong-Goo , Botse-Baidoo Edward , Pedersen-White Jennifer , Layman Lawrence , Martinez-Barbera Juan Pedro , Dattani Mehul T.

Background: SOX2 is an early developmental transcription factor implicated in pituitary development; heterozygous SOX2 mutations have been reported in patients with a severe ocular phenotype and hypogonadotrophic hypogonadism (HH) with/without associated abnormalities. SOX2 physically interacts with β-catenin, a member of the Wnt-signalling pathway, via its carboxyl-terminus and it represses in vitroβ-catenin mediated activation.<p class="abstex...

hrp0082fc11.3 | Pituitary | ESPE2014

Early-Onset Central Diabetes Insipidus is Associated with De Novo Arginine Vasopressin-Neurophysin II or Wolfram Syndrome 1 Gene Mutations*

Allegri Anna Elsa Maria , Iorgi Natascia Di , Perrotta Silverio , Ragione Fulvio Della , Scianguetta Saverio , Borriello Adriana , Ferraro Marcella , Santoro Claudia , Calcagno Annalisa , Napoli Flavia , Giaccardi Marta , Cappa Marco , Salerno Maria Carolina , Maghnie Mohamad

Background: Children with familial forms of central diabetes insipidus (CDI) display polyuria and polydipsia within the first years of life.Objective and hypotheses: We hypothesize that children with an early-onset idiopathic CDI might be affected by de novo genetic mutations.Method: Eleven children aged between 1 month and 7 years with polyuria and polydipsia and negative family history were enrolled. In nine of them with...

hrp0082fc11.4 | Pituitary | ESPE2014

Management of Hyperhydration in a Child with Syndrome of Inappropriate Antidiuretic Hormone Secretion (Siadh) Using a Selective Vasopresin Receptor Agonist

Delgado-Carballar Violeta , Thankamony Ajay , Willemsen Ruben , Elleri Daniela , Dunger David

Background: Management of SIADH is challenging and no optimal therapies are available in children. We present a case of an 11 years old boy with severe SIADH resistant to 30% fluid restriction in the context of an intracranial suprasellar high grade B-cell lymphoma who requires hyperhydration for chemotherapy protocol. Tolvaptan is an oral highly selective arginine vasopressin V2 receptor antagonist, which has been approved for use in SIADH in adults.Obj...

hrp0082fc11.5 | Pituitary | ESPE2014

Endocrine Features of a Large Cohort of Children with Septo-Optic Dysplasia and Congenital Multiple Pituitary Hormonal Deficiencies

Cerbone Manuela , Guemes Maria , Kasia Tessa , Dattani Mehul T

Introduction: Septo-optic dysplasia (SOD) is characterized by a combination of midline forebrain, pituitary and eye abnormalities. We aimed to evaluate endocrine features of patients with SOD, and multiple pituitary hormone deficiencies (MPHD).Design: Retrospective data were collected from 130 patients: 102 SOD and 28 MPHD followed at a single tertiary centre. SOD were divided into two groups: with pituitary hormone deficiencies (SOD+, n=83) and...

hrp0082fc11.6 | Pituitary | ESPE2014

Clinical and Neuroradiological Characteristics in Children and Adolescents with Septo-Optic Dysplasia, Multiple Pituitary Hormone Deficiencies and Optic Nerve Hypoplasia: Experience from a Single Tertiary Centre

Guemes Maria , Cerbone Manuela , Bagkeris Manolis , Gregory L C , Kasia Tessa , Dattani Mehul

Background: Septo-optic dysplasia (SOD) is an important cause of hypopituitarism, although less common than multiple pituitary hormone deficiency (MPHD). Children with optic nerve hypoplasia (ONH) are at risk of hormone and neurocognitive disturbances.Objective and Hypotheses: We describe clinical and neuroradiological findings of these three overlapping conditions, aiming to understand their pathophysiology.Method: Retrospective a...