hrp0095rfc4.2 | Fat, Metabolism and Obesity | ESPE2022

Effect of Setmelanotide Treatment in Children and Adolescents With Proopiomelanocortin (POMC) Deficiency, Leptin Receptor (LEPR) Deficiency, and Bardet-Biedl Syndrome (BBS)

Argente Jesús , Kühnen Peter , M. Haqq Andrea , Wabitsch Martin , K. Chung Wendy , van den Akker Erica , Á. Martos-Moreno Gabriel , Mohamed Iqbal Anoop , Forsythe Elizabeth , Dubern Béatrice , Malhotra Sonali , Yuan Goujun , Touchot Nicolas , Dollfus Hélène , Farooqi Sadaf , Clément Karine

Background: The melanocortin-4 receptor (MC4R) pathway is a key regulator of energy balance and satiety. Variants in genes upstream of MC4R encoding leptin receptor (LEPR), proopiomelanocortin (POMC), proprotein convertase subtilisin/kexin type 1(PCSK1) and those involved in Bardet-Biedl syndrome (BBS) can impair MC4R pathway signaling. Clinically, these variants are characterized by hyperphagia (Pathologic insatiable hunger) and early-onset, severe obesity. E...

hrp0082p1-d3-96 | Sex Development | ESPE2014

Isolated Hypospadias and Exposure to Endocrine Disrupting Chemicals During Pregnancy: a Multi-Institutional Controlled Study in a High Prevalence Area

Kalfa Nicolas , Philibert Pascal , Broussous Sylvie , Chouikh Taieb , Masmoudi Mohamed , Audran Francoise , Paris Francoise , Servant Nadege , Sultan Charles , Orsini Mattea , Zahhaf Amel , Daures Jean Pierre , Lehors Helene , Guys Jean Michel , Reynaud Rachel , Alessandrini Pierre , Bastiani Florence , Kurzenne Jean Yves , Wagner Kathy , Lacombe Gerard Morisson

Background: Numerous studies focused on the association between hypospadias and Endocrine Disrupting Chemicals (EDC) exposures. The wide variability of phenotypes included in these studies, the absence of comparison groups representative of the populations and the absence of concomitant genetic testing to rule out another cause make the results questionable.Objective and hypotheses: We performed a prospective phenotype-specific analysis of patients with ...

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, (...

hrp0095p1-130 | Growth and Syndromes | ESPE2022

Osteogenesis imperfecta / Ehlers–Danlos (OI/EDS) overlap syndrome associated with a new COL1A1 variant (c.3235G>A, p.Gly1079Ser) in a girl with severe short stature and neuroblastoma

Letteria Anna Morabito , Elsa Maria Allegri Anna , Paola Capra Anna , Corica Domenico , Capasso Mario , Capra Valeria , Garaventa Alberto , Maghnie Mohamad , Briuglia Silvana , Gabriela Wasniewska Malgorzata

Background: Osteogenesis imperfecta / Ehlers–Danlos (OI/EDS) overlap syndrome is a rare and recently described disorder of connective tissue, characterized by mutation of COL1A1 (17q21.33) or COL1A2 (7q21.3) genes, involved in alpha-1 and alpha-2 chains of type 1 collagen synthesis. Patients with OI/EDS overlap syndrome could show a phenotype characterized by features of both osteogenesis imperfecta (bone fragility, long bone fractures, blue sclerae, sho...

hrp0095p1-330 | Growth and Syndromes | ESPE2022

The JAMP (Journey around Achondroplasia Medicines and Patients) Project: Results Collected From Two Surveys to clinicians and Patients in Italy

Antoniazzi Franco , Francesca Bedeschi Maria , Boero Silvio , LidonniciDario , Maghnie Mohamad , MoraStefano , Ravasio Roberto , Scarano Gioacchino , Selicorni Angelo , Sessa Marco , Verdoni Fabio , Zampino Giuseppe

Achondroplasia is a rare genetic condition caused by a recurrent pathogenetic variant in the FGFR3 gene resulting in short limb skeletal dysplasia. Due to the wide-ranging anomalies associated with achondroplasia (both peculiar clinical features and complications), a multidisciplinary team is often required for ongoing care, although the nature of specialists involved differs among countries. Despite a European consensus on principles for the management of achondropla...

hrp0095p1-152 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

COVID-19 and precocious puberty: Does BMI play a role?

Pepino Carlotta , Fava Daniela , Pepe Alessia , Strati Marina , Paoloni Dalila , Patti Giuseppa , Elsa Maria Allegri Anna , Maghnie Mohamad , Di Iorgi Natascia

Background: Since COVID-19 the number of girls referred to pediatric endocrinologist for suspected precocious puberty (PP) and early puberty (EP) has increased. The aim of the study was to evaluate the incidence, the anthropometric, biochemical and radiological characteristics of PP during the COVID-19 pandemic, compared to previous years.Methods: We retrospectively evaluated medical records of 464 females (F) referred t...

hrp0092rfc2.4 | Bone, Growth Plate and Mineral Metabolism Session 1 | ESPE2019

Bone Mass and Fracture Prevalence in Childhood Brain Cancer Survivors 2, 5 or 7 Years After Off Therapy

Gallizia Annalisa , Mauro Vera , Crocco Marco , Elsa Maria Allegri Anna , Napoli Flavia , Luisa Garrè Maria , Maghnie Mohamad , Di Iorgi Natascia

Background and Aim: Multifaceted risk factors impair bone mass (BM) in childhood brain cancer survivors(CBCS). Aims of the study were to evaluate bone mass and it's determinant and fracture prevalence in CBCS 2(G+2), 5(G+5) or 7(G+7) years after off therapy (OT).Methods: Seventy-three(G+2), 87(G+5) and 66(G+7)CBCS were evaluated at 12,9±4,2, 14,9±4,4 and 16,6±4,4yrs, respectivel...

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...

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...