hrp0095p1-565 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Adult Height is impaired in females with Medulloblastoma and hypogonadism: Impact of Pubertal Timing

Ferraro Paola , Casalini Emilio , Fava Daniela , Maghnie Mohamad , Patti Giuseppa , Di Iorgi Natascia

Introduction and Aim of the Study: girls with previous pediatric medulloblastoma (MB) are at risk of short stature and impairment of the hypothalamic pituitary gonadal function due to multiple risk factors;our aim was to assess the impact of hypergonadotropic hypogonadism (HH) on growth up to final height (FH) in females with or without growth hormone deficiency (GHD).Methods: anthropometrics (height-Ht-SDS, BMI-SDS, Tan...

hrp0092rfc12.5 | Growth and Syndromes (to include Turner syndrome) | ESPE2019

Cognitive and Neuroradiological Assessments in Silver Russell Patients

Patti Giuseppa , De Mori Letizia , Tortora Domenico , Savina Severino Maria , Calevo Mariagrazia , Morana Giovanni , Rossi Andrea , Casalini Emilio , Napoli Flavia , Di Iorgi Natascia , Maghnie Mohamad

Silver-Russell syndrome (SRS) is an epigenetic disorder characterized by severe intrauterine and postnatal growth retardation and typical dysmorphic features. The most common genetic abnormalities are 11p15 ICR1 loss of methylation, (11p15 LOM) and maternal uniparental disomy of chromosome 7 (mUPD7). There is little information on cognitive development in SRS patients and no neuroradiological studies are available so far. Global developmental delay and requirement for speech t...

hrp0094p2-321 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Alterations in Metabolic profile and Body Composition in children with Silver Russell syndrome

PATTI Giuseppa , Malerba Federica , Schiavone Maurizio , GRAZIA CALEVO MARIA , Casalini Emilio , Fava Daniela , Napoli Flavia , Allegri Anna , Di Iorgi Natascia , Maghnie Mohamad ,

There is little information on metabolic profiles and Body Composition in children with Silver-Russell syndrome (SRS).Methods: 31 SRS patients [16 subjects with 11p15 loss of methylation (11pLOM) and 15 subjects with maternal uniparental disomy of chromosome 7 (mUPD7); mean age 7.4±4.3 years] and non-SRS subjects [34 small for gestational age (SGA), 13.4±2.7 years, and 44 appropriate for gestational age (AGA), 6.9 ± 1.4 ye...

hrp0095p1-116 | Growth and Syndromes | ESPE2022

Clinical and biochemical parameters of puberty onset in children with Silver Russell syndrome and children born small for gestational age

Patti Giuseppa , Malerba Federica , Scaglione Marco , Schiavone Maurizio , Grazia Calevo Maria , Varotto Carolina , Casalini Emilio , Fava Daniela , Allegri Anna , Napoli Flavia , Di Iorgi Natascia , Maghnie Mohamad

Silver-Russell syndrome (SRS) is a rare heterogeneous syndrome associated with severe prenatal and postnatal growth retardation.Context: There is little information on puberty onset and bone age trend in children with SRS.Study Design and partecipants: Retrospective observational study, including patients with a confirmed diagnosis of SRS divided in 2 molecular groups [ 11p15 loss of methylation, (...