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hrp0092p1-97 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Familial Neurohypophyseal Diabetes Insipidus and 2 Novel Vasopressin Gene Mutations in 13 Italian Kindreds.

Patti Giuseppa , Scianguetta Saverio , Balsamo Antonio , Cappa Marco , Corbetta Sabrina , Gaudino Rossella , Iughetti Lorenzo , Salerno Maria Carolina , Napoli Flavia , Peri Alessandro , Maghnie Mohamad , Perrotta Silverio , Di Iorgi Natascia

Background: Autosomal dominant neurohypophyseal diabetes insipidus (adNDI) is characterized by arginine vasopressin (AVP) deficiency resulting from mutations in the AVP-NPII genePatients and Methods: We analyzed AVP-NPII gene in 13 kindreds with familial NDIAim: To describe the clinical and molecular features of Italian kindreds with adNDIResults</str...

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hrp0086p2-p705 | Endocrinology and Multisystemic Diseases P2 | ESPE2016

Endocrinological Disorders in Children with Neurofibromatosis Type 1 and Optic Pathway Gliomas

Nacca Raffaella , Scillipoti Martina , Grandone Anna , Santoro Claudia , Cinalli Giuseppe , Cirillo Mario , Cioffi Daniela , Luongo Caterina , Del Giudice Emanuele Miraglia , Perrotta Silverio , Perrone Laura

Background: Children with neurofibromatosis type 1 (NF1) have an increased risk of developing optic pathway gliomas (OPGs) during childhood. Although these tumors usually have a benign course, some cases result in significant clinical symptoms, including endocrinological disorders.Objective and hypotheses: The aim of this study is to evaluate the endocrinological complications of OPGs involving the chiasm in children with NF1.Metho...

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hrp0092rfc11.2 | Pituitary, Neuroendocrinology and Puberty Session 2 | ESPE2019

Prevalence and Predicting Factors of Endocrine Dysfunction in Children with NF1 and Optic Gliomas

Santoro Claudia , Perrotta Silverio , Scilipoti Martina , Cirillo Mario , Quaglietta Lucia , Cinalli Giuseppe , Cioffi Daniela , Di Iorgi Natascia , Gallizia Annalisa , Maghnie Mohamad , Parpagnoli Maria , Messa Federica , Vannelli Silvia , De Sanctis Luisa , Marzuillo Pierluigi , del giudice Emanuele Miraglia , Grandone Anna

Introduction:Up to 20% of children with neurofibromatosis type 1 (NF1) develops low-grade optic pathway gliomas(OPGs) that can result in neuroendocrinopathy.The aim of the study was to identify prognostic factors for developing neuroendocrinopathies in patients with NF1 and OPGs before any treatment.Methods: Records of 117 children with NF1 and OPGs followed at 4 Italian centers between 1997-20...

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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...

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hrp0082p1-d3-185 | 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...

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ESPE Abstracts

Familial Neurohypophyseal Diabetes Insipidus and 2 Novel Vasopressin Gene Mutations in 13 Italian Kindreds.

Endocrinological Disorders in Children with Neurofibromatosis Type 1 and Optic Pathway Gliomas

Prevalence and Predicting Factors of Endocrine Dysfunction in Children with NF1 and Optic Gliomas

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

Early-Onset Central Diabetes Insipidus is Associated with de novo Arginine Vasopressin-Neurophysin II or Wolfram Syndrome 1 Gene Mutations

BiosciAbstracts

ESPE Abstracts

Familial Neurohypophyseal Diabetes Insipidus and 2 Novel Vasopressin Gene Mutations in 13 Italian Kindreds.

Endocrinological Disorders in Children with Neurofibromatosis Type 1 and Optic Pathway Gliomas

Prevalence and Predicting Factors of Endocrine Dysfunction in Children with NF1 and Optic Gliomas

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

Early-Onset Central Diabetes Insipidus is Associated with de novo Arginine Vasopressin-Neurophysin II or Wolfram Syndrome 1 Gene Mutations

BiosciAbstracts

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