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-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...

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...

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...

hrp0082p1-d2-30 | Autoimmune Endocrine Disease | ESPE2014

Managing Children with Thickened Pituitary Stalk and/or Idiopathic Central Diabetes Insipidus: a Single Centre Experience on 63 Children

Cerbone Manuela , Ederies Ash , Losa Laura , Moreno Carolina , Sun Kristi , Spoudeas Helen A

Background and objective: Children with Thickened pituitary stalk (TPS) and/or Idiopathic central diabetes insipidus (ICDI) present to different (endocrine, oncology, and ophthalmology) specialists. Their rarity, absence of agreed radiological criteria or consensus guidance, make their management problematic. Biopsy is too dangerous and cases may remain undiagnosed or evolve over decades. We aimed: i) to longitudinally characterize a large childhood cohort presenting with TPS ...

hrp0082p3-d1-819 | Growth | ESPE2014

Body Composition in GH Deficient Children: Effects of GH Therapy and Comparison Between DXA and Anthropometric Data

Capalbo Donatella , Esposito Andrea , Cerbone Manuela , Rezzuto Martina , Di Pinto Rosita , Mainolfi Ciro , Salerno Mariacarolina

Background: GH deficiency (GHD) in adults has been consistently associated with increased adiposity and decreased lean mass. Data in childhood are still scanty and the most appropriate tools to assess body composition in these children remain to be established.Objective and hypotheses: To evaluate the effects of GHD and GH replacement therapy (GHRT) on body composition in GHD children and make a comparison between DXA and anthropometric measures in evalu...

hrp0082p3-d2-969 | Sex Development (1) | ESPE2014

A Challenging Diagnosis in Three 46,XY Females from Two Related Families

Mase Raffaella Di , Improda Nicola , Cerbone Manuela , De Martino Lucia , Capalbo Donatella , Baldazzi Lilia , Salerno Mariacarolina

Background: Mutations in the 17β-hydroxysteroid dehydrogenase (17βHSD 3) result in 46,XY disorder of sex development (DSD). Biochemical hallmark of 17βHSD 3 deficiency is a Testosterone/Androstenedione ratio (T/A ratio) <0.8. 17βHSD 3 mutations have been associated with a wide spectrum of phenotypes, ranging from under-virilized male to a female appearance of genitalia at birth. Indeed, 17βHSD 3 deficiency in prepubertal patients is often clinicall...

hrp0084p2-182 | Adrenals | ESPE2015

Insulin Sensitivity and Adipocytokynes in Children with Classical Congenital Adrenal Hyperplasia

Improda Nicola , Cerbone Manuela , Esposito Andrea , Barbieri Flavia , Mase Raffaella Di , Capalbo Donatella , Salerno Mariacarolina

Background: Recent studies demonstrate that children with Congenital Adrenal Hyperplasia (CAH) may develop visceral adiposity and insulin-resistance. Data on adipocytokines are scanty and contradictory.Objective: To evaluate leptin and adiponectin concentrations in CAH adolescents and investigate their correlation with glucocorticoids and hormonal and metabolic profile.Methods: Leptin, adiponectin, insulin and HOMA were evaluated i...