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...

hrp0097p1-520 | Growth and Syndromes | ESPE2023

Does cervical medullary decompression have an impact on growth in children with achondroplasia?

Fava Daniela , Tedesco Caterina , Angelelli Alessia , Napoli Flavia , Pepino Carlotta , Pepe Alessia , Teruzzi Daniela , Pisati Angelica , Fay Cortella Maria , Binelli Maria , Maghnie Mohamad , Di Iorgi Natascia , Elsa Maria Allegri Anna

Background: Foramen magnum stenosis (FMS) is a life-threatening complication in children with achondroplasia (ACH) which may require cervicomedullary decompression (CMD). There is no evidence if FMS and CMD affects growth in children with ACH.Aim: To evaluate the impact of FSM and CMD surgery on anthropometric measurements in children with ACH.Methods: Sixty-five patients with ACH ...

hrp0084p3-712 | Diabetes | ESPE2015

A Novel Compound Heterozygous Mutation in an Adolescent with Insulin-dependent Diabetes: A Case Report of Wolfram Syndrome

Maltoni Giulio , Mantovani Vilma , Zucchini Stefano , Cristalli Carlotta Pia , Minardi Raffaella , Mazzanti Laura

Background: Wolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by non-autoimmune diabetes mellitus and progressive optic atrophy. WS includes other possible disorders, such as diabetes insipidus, sensorineural deafness, genitourinary tract problems, neurological or psychiatric disorders and others.Case presentation: A 12-years-old boy presented with glicosuria and shortly developed insulin-dependent diabetes mellitus...

hrp0092rfc7.6 | Diabetes and Insulin Session 2 | ESPE2019

Health-Related Quality of Life and Diabetes Control in Immigrant and Italian Children and Adolescents with Type 1 Diabetes and in their Parents

Predieri Barbara , Boncompagni Alessandra , Bruzzi Patrizia , Cenciarelli Valentina , Madeo Simona F. , Pugliese Marisa , Toffoli Carlotta , Bocchi Federica , Iughetti Lorenzo

Background/Objectives: Type 1 diabetes (T1D) is a chronic metabolic disease that requires daily and complex management for both patients and their caregivers, impairing the quality of life. Aim of this cross-sectional observational study was to determine whether metabolic control and health-related quality of life (HRQOL) of T1D subjects and their parents could be influenced by immigration status.Methods: We enrolled 125...

hrp0097s12.2 | What's new for the HPG Axis | ESPE2023

SEMA6A drives GnRH neuron-dependent puberty onset by tuning median eminence vascular permeability

Cariboni Anna , Oleari Roberto , Lettieri Antonella , van den Munkhof Marleen , van Battum Eljo , Tacconi Carlotta , Spreafico Marco , Paganoni Alyssa , Amoruso Federica , Eberini Ivano , Dunkel Leonard , Fantin Alessandro , Howard Sasha , Pasterkamp Jeroen

Innervation of the hypothalamic median eminence by Gonadotropin-Releasing Hormone (GnRH) neurons is vital to ensure puberty onset and successful reproduction. However, the molecular and cellular mechanisms underlying median eminence development and pubertal timing are incompletely understood. Here we show that Semaphorin-6A is strongly expressed by median eminence-resident oligodendrocytes positioned adjacent to GnRH neuron projections and fenestrated capillaries, and that Sem...