hrp0092p1-362 | GH and IGFs (2) | ESPE2019

Sequencing Approach to Identify Candidate Genes Involved in Short Stature

Formicola Daniela , Pagliazzi Angelica , Peluso Francesca , Cardinale Antonella , Capasso Mario , Iolascon Achille , Tiberi Lucia , Vergani Debora , Vanderwert Fiorenza Irushani , Ricci Franco , Giglio Sabrina , Stagi Stefano

Background/Aims: Short stature is a common reason for presentation to paediatric endocrinology clinics. Getting to a diagnosis of short stature is a multi-step, complex process of tests that only in a few cases save a diagnosis. As genetic plays a strong role in height, we sought to identify known and novel genetic causes of short stature.Methods: We recruited 18 children with severe short stature, we conducted whole exo...

hrp0086p1-p107 | Bone & Mineral Metabolism P1 | ESPE2016

Bone Mineral Status in Children and Adolescents with Klinefelter Syndrome

Stagi Stefano , Scalini Perla , Di Tommaso Mariarosaria , Chiarelli Francesco , Manoni Cristina , Parpagnoli Maria , Verrotti Alberto , Lapi Elisabetta , Giglio Sabrina , Dosa Laura , de Martino Maurizio

Background: Klinefelter syndrome (KS) has long-term consequences on bone health. However, studies regarding bone status and metabolism in childhood and adolescence are very rare.Objective and hypotheses: The purpose of our study was to evaluate bone status and metabolism in a cohort of KS children and adolescents.Method: This cross-sectional study involves 40 (mean age 13.7±3.8 years) KS children and adolescents and 80 age-mat...

hrp0086p1-p130 | Bone & Mineral Metabolism P1 | ESPE2016

Triple X Syndrome: An Evaluation of Bone Mineral Status and Metabolism

Stagi Stefano , Scalini Perla , Di Tommaso Mariarosaria , Parpagnoli Maria , Paci Silvia , Masoni Fabrizio , Chiarelli Francesco , Verrotti Alberto , Guarducci Silvia , Giglio Sabrina , Romano Silvia , de Martino Maurizio

Background: However, no study has considered the effect of a supernumerary X chromosome on bone mineral status and bone metabolism.Objective and hypotheses: To evaluate bone mineral status and metabolism in a cohort of patients with nonmosaic triple X syndrome.Method: Nineteen girls (median age 10.9, range 7.7–15.9 years) with nonmosaic triple X syndrome were cross-sectionally studied and compared to an age- and body-size-matc...

hrp0092p1-194 | Fat, Metabolism and Obesity (1) | ESPE2019

Whole Exome Sequencing to Identify Causative Variants in a Female Patient with Early Onset Obesity and Intellectual Disability: A New Case of Borjeson-Forsman-Lehmann syndrome

Pagliazzi Angelica , Artuso Rosangela , Traficante Giovanna , Giunti Laura , Bosi Emanuele , Provenzano Aldesia , La Barbera Andrea , Guarducci Silvia , Palazzo Viviana , Pantaleo Marilena , Lucherini Barbara , Sani Ilaria , Formicola Daniela , Reho Paolo , Bargiacchi Sara , Dosa Laura , Peluso Francesca , Forzano Giulia , Contrò Gianluca , Di Giovanni Fabiana , Stagi Stefano , Giglio Sabrina

The epidemic spread of obesity in children has triggered the commitment of scientific research, which has allowed us to understand its genetic basis; the different forms of genetic obesity share common clinical aspects, making it difficult to achieve a molecular diagnosis based only on our clinical suspicion. We report a female patient presented with neonatal hypotonia, hyperphagia and early onset excessive weight gain, strabismus and high hypermetropia. Regarding her neurodev...

hrp0092p2-181 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

A Novel Case Of Paternal Isodisomy for Chromosome 7 Associated with Overgrowth

Pagliazzi Angelica , Artuso Rosangela , Guarducci Silvia , Pantaleo Marilena , Lucherini Barbara , Sani Ilaria , Landini Samuela , Traficante Giovanna , Provenzano Aldesia , La Barbera Andrea , Vergani Debora , Tiberi Lucia , Formicola Daniela , Mancano Giorgia , Bosi Emanuele , Peluso Francesca , Forzano Giulia , Contrò Gianluca , Di Giovanni Fabiana , Stagi Stefano , Giglio Sabrina

We report a pediatric patient with an undiagnosed and complex medical manifestation who was shown to have paternal isodisomy at chromosome 7. Our case is a female patient presented for increasing overweight, parotid hemangioma and gastroesophageal reflux with laryngomalacia. She was born at 35+4 weeks of gestation and her birth weight, length and occipitofrontal circumference (OFC) were 2500 g, 49 cm and 33 cm, respectively. At the time of our visit she was 16 months old, ...

hrp0092p1-98 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Final Height in Oncological Growth Hormone Deficient (GHD) Children After Growth Hormone (GH) Therapy

Rodari Giulia , Cattoni Alessandro , Albanese Assunta

Background: Growth hormone deficiency (GHD) is the commonest hypothalamic-pituitary (HP) disorder in cancer survivors. The only few studies in literature addressing GH efficacy in a large cohort of patients concluded that, though improving height outcome, GH therapy may not entirely restore final height (FH) potential according to mid-parental height (MPH). Thus, in order to optimize outcome, more information on factors influencing growth response in these chi...

hrp0082p3-d1-904 | Pituitary | ESPE2014

Long-Term Endocrinological Follow-Up in Diencephalic Syndrome

Parpagnoli Maria , Seminara Salvatore , Anzilotti Giulia

Background: Diencephalic syndrome (DS), diencephalic cachexia or Russell syndrome, is a rare, rapidly fatal condition, usually occurring during the first year of life, as a result of a hypothalamic dysfunction due to hypothalamic/chiasmatic tumors. Clinical features of DS are weight loss leading to cachexia despite a normal caloric intake and growth rate, hyperalertness, hyperkinesis, and euphoria. Treatment is related to treatment of the hypothalamic lesion. The role of cytok...

hrp0082p3-d1-934 | Puberty and Neuroendocrinology | ESPE2014

An Unusual Combination of Premature Ovarian Failure and a History of GNRH Treatment for Idiopathic Precocious Puberty

Parpagnoli Maria , Seminara Salvatore , Anzilotti Giulia

Background: The normal recovery of the hypothalamic–pituitary–gonadal axis after discontinuation of therapy with GNRH analogue for precocious puberty has been proven and documented in the last decades. There has been no report in the literature of patients in which a history of GNRH treatment of precocious puberty is correlated with premature ovarian failure.Objective and hypotheses: The aim of the authors is to evaluate the possibility of a co...

hrp0095p1-297 | GH and IGFs | ESPE2022

rhGH therapy in a patient with homozygous IGF1R mutation

Elisa Amodeo Maria , Deodati Annalisa , Mirra Giulia , Tattesi Giulia , Cianfarani Stefano

Background: IGFR1 gene plays a crucial role in growth and glucose metabolism. IGF1R mutations account for approximately 10% of children born SGA with no catch-up growth. rhGH therapy has been reported moderately effective in stimulating growth of children with heterozygous IGF1R mutation. To date, no data are available about the efficacy of rhGH in patients with homozygous mutations.Case report: We describe a 4 years-old...

hrp0089p2-p324 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

Endocrine-Metabolic Characterization of Pediatric Patients with Craniopharyngioma: A Single-centre Cohort study

Pedicelli Stefania , Sette Giulia , Cianfarani Stefano , Cappa Marco

Craniopharyngioma is a rare, embryonic malformation of the sellar/parasellar region with low histological grade. In childhood-onset craniopharyngioma (CoCR), endocrine dysfunctions, severe obesity and metabolic syndrome (MetS), neurological impairment and reduced quality of life have been described as consequences of both localization and treatment. To characterize a population with CoCR and to correlate endocrine/metabolic sequelae with different surgery approach we performed...