hrp0092fc11.1 | Pituitary, Neuroendocrinology and Puberty Session 2 | ESPE2019

Phenotypic Characterization of a Large Pediatric Cohort of Patients with Genetic Forms of Congenital Hypopituitarism

Cionna Cecilia , Cerbone Manuela , Gregory Louise C , Dattani Mehul T

Background: Genetic variants are identified in a small proportion (~10%) of patients with Congenital Hypopituitarism (CH), with variable associated phenotypes. We aimed to phenotypically characterise a large cohort of patients with genetically proven CH.Patients and methods: 1684 CH patients were screened (Sanger or whole exome sequencing) over a 20-year period (1998-2018) for mutations in genes regulating pitui...

hrp0089p2-p058 | Bone, Growth Plate & Mineral Metabolism P2 | ESPE2018

Validation of an Automated Method (BoneXpert) for the Determination of Bone Age in Paediatric Endocrinology – A Single Centre Experience

Calder Alistair , Dastamani Antonia , Spoudeas Helen , Dattani Mehul

Background: The BoneXpert method is an automated determination of bone age, which employs deformable models of each bone to locate the bones, and extracts the component of the bone appearance related to maturity in a holistic, statistical manner. The BoneXpert has been validated on normal children and children with diagnoses typical of pediatric endocrinology. Multiple clinical studies suggested that BoneXpert has adequate accuracy, precision, and efficiency to be clinically u...

hrp0089p2-p227 | GH & IGFs P2 | ESPE2018

Growth Pattern and Final Height Outcome in Children with Septo-optic Dysplasia and Isolated Hypopituitarism Treated with rhGH in a Single Centre

Cerbone Manuela , Guemes Maria , Improda Nicola , Dattani Mehul T

Aim: To identify the distinctive features of GH Deficiency (GHD) and to assess the response to GH treatment (rhGH) in children with Septo-Optic-dysplasia (SOD) and Multiple Pituitary Hormone Deficiencies (MPHD).Methods: Retrospective longitudinal single centre study of children with SOD (n:171) and MPHD (n:53). GHD was diagnosed in patients with growth failure by an insufficient GH response (≤6.7 μg/l) to provocation (Insulin Induced Hypoglyca...

hrp0086fc3.5 | Pituitary | ESPE2016

Septo-optic Dysplasia Spectrum: Pubertal Features of a Large Cohort of Children and Adolescents with Septo-optic Dysplasia, Congenital Hypopituitarism and Optic Nerve Hypoplasia from a Single Centre

Cerbone Manuela , Guemes Maria , Improda Nicola , Dattani Mehul T

Background: Children with septo-optic dysplasia (SOD) and related disorders can present with either hypogonadotropic hypogonadism or precocious puberty. This phenotypic variability remains unexplained.Objective and hypotheses: To compare pubertal characteristics of SOD with isolated congenital hypopituitarism (CPHD) and optic nerve hypoplasia (ONH).Method: Retrospective longitudinal data collection from 259 patients with: SOD (...

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...

hrp0084fc11.1 | Neuroendocrinology | ESPE2015

Mutations in BRAF are Associated with Septo-Optic Dysplasia and Cardiofaciocutaneous Syndrome

Besser Rachel , Gregory Louise , Davies Justin , Dattani Mehul

Background: Mutations in BRAF are a rare cause of cardiofaciocutaneous syndrome (CFC). Recently, BRAF mutations have been reported in papillary craniopharyngiomas, but have not been described in patients with other hypothalamo-pituitary abnormalities. We describe three patients with CFC and septo-optic dysplasia (SOD) associated with heterozygous BRAF mutations.Cases: Patients presented in childhood with clinical features of ge...

hrp0089fc10.5 | Late Breaking | ESPE2018

A 5-Year Single-Centre Experience on the Safety and Efficacy of Sirolimus Therapy used for the Treatment of Congenital Hyperinsulinaemic Hypoglycaemia

Guemes Maria , Dastamani Antonia , Ashworth Michael , Morgan Kate , Ellard Sian , Flanagan Sarah , Dattani Mehul , Shah Pratik

Background: Case reports have documented variable glycaemic response to the mTOR inhibitor Sirolimus in severe diazoxide+/−octreotide unresponsive forms of congenital hyperinsulinaemic hypoglycaemia (CHI). A high incidence of adverse effects has been reported in patients receiving this medication.Objective(s): To describe the efficacy and safety of Sirolimus use over a 5-year period in the largest cohort of CHI patients treated to date.<p class...

hrp0089rfc9.6 | Pituitary, Neuroendocrinology and Puberty 1 | ESPE2018

Can Neuroimaging Predict Endocrine Morbidity in Congenital Hypothalamo-Pituitary (H-P) Disorders?

Cerbone Manuela , Guemes Maria , Wade Angie , Improda Nicola , Dattani Mehul T

Background: Few studies have described the phenotypic spectrum of Septo-Optic Dysplasia (SOD). The aim of this study was to evaluate the range of H-P structural abnormalities and the endocrine morbidity of children with SOD and related disorders.Methods: Retrospective longitudinal single centre study of children with SOD (n:171), Multiple Pituitary Hormone Deficiency (MPHD) (n:53) and Optic Nerve Hypoplasia (ONH) (n:35).<p class="ab...

hrp0089p2-p105 | Diabetes &amp; Insulin P2 | ESPE2018

Post-Prandial Hyperinsulinaemic Hypoglycaemia after Oesophageal Surgery in Children

Dastamani Antonia , Malhotra Neha , Guemes Maria , Morgan Kate , Rees Clare , Dattani Mehul , Shah Pratik

Introduction: Post-prandial hyperinsulinaemic hypoglycaemia (PPHH) is a recognised complication of various gastric surgeries in children, but rarely reported after oesophageal atresia repair. We report two children diagnosed with PPHH post-oesophageal surgery and the challenges of their management.Case 1: A 2-year-old boy diagnosed with oesophageal atresia at birth, was surgically repaired requiring six oesophageal dilatations the first year of life. At ...

hrp0089p1-p106 | Fat, Metabolism and Obesity P1 | ESPE2018

Towards a Greater Understanding of the Pathophysiology of Obesity: Hypothalamic Obesity as a Model of Dysregulation of Appetite and Metabolic Homeostasis

Gan Hoong-Wei , Leeson Clare , Aitkenhead Helen , Farooqi Sadaf , Spoudeas Helen , Dattani Mehul

Introduction: Hypothalamic obesity (HyOb) is a rare form of treatment-resistant morbid obesity associated with congenital or acquired hypothalamic damage. Its pathophysiology is incompletely understood, with weight gain being attributed to hyperphagia and hyperinsulinaemia. We sought to compare the physiology of various plasma appetite-regulating hormones in HyOb and ‘simple’ obesity (Ob) to improve our understanding of both forms of obesity and identify novel therap...