hrp0084p3-1144 | Puberty | ESPE2015

Central Precocious Puberty in Cerebral Palsy

Bruzzi Patrizia , Messina Maria Francesca , Bartoli Alessandra , Lucaccioni Laura , Predieri Barbara , De Luca Filippo , Iughetti Lorenzo

Background: Children affected by cerebral palsy (CP) could experience central precocious puberty (CPP) 20 times more than general population. Nevertheless, the treatment is challenging.Objective and hypotheses: To compare CPP features and the effects of gonadotropin-releasing hormone agonist therapy (GnRHa) in children with CP and in controls.Method: The study involved 16 children with CPP and CP (median age (range) at diagnosis of...

hrp0084p3-1181 | Thyroid | ESPE2015

Early Discrimination between Transient and Permanent Congenital Hypothyroidism in Children with Eutopic Gland

Messina Maria Francesca , Aversa Tommaso , Salzano Giuseppina , Zirilli Giuseppina , Sferlazzas Concetta , De Luca Filippo , Lombardo Fortunato

Background: Congenital hypothyroidism (CH) is a common condition that occurs in ~1:3000–4000 live births and is one of the most common preventable cause of mental retardation with an early diagnosis and prompt pharmacological treatment. Neonatal screening has abolished this disease but 10% of children originally diagnosed with CH will have a transient form of the disorder and this percentage is increased during the last years due to a lowering of cut-off.<p class="abs...

hrp0094p1-99 | Thyroid A | ESPE2021

Early adiposity rebound in children with congenital hypothyroidism diagnosed by newborn screening

Aversa Tommaso , Corica Domenico , Maria Cecilia Lugara , Messina Francesca , Pepe Giorgia , Wasniewska Malgorzata ,

Background: It is reported that children with congenital hypothyroidism (CH) are at increased risk of developing childhood obesity. Moreover, it is known that the timing of adiposity rebound (AR) in childhood is strongly linked with future obesity. Aims of our study were to explore the timing of AR and to identify factors affecting AR in a cohort of children with CH diagnosed by newborn screening and treated with levothyroxine. Design: one-center, retrospectiv...

hrp0094p1-145 | Sex Endocrinology and Gonads B | ESPE2021

Serum anti-Müllerian hormone as a marker of ovarian reserve among childhood cancer survivors

Molinari Silvia , Parissone Francesca , Evasi Veronica , Marco Santo Di , Biondi Andrea , Cattoni Alessandro ,

Introduction: Female patients treated with alkylating agents in childhood are at risk for ovarian impairment. We aimed at describing the pattern of residual ovarian function in a cohort of hematological cancer survivors, assessing the relationship between the cumulative dose of alkylating agents administered (expressed as Cyclophosphamide Equivalent Dose - CED) and Anti-Müllerian Hormone (AMH) levels.Methods: Gonada...

hrp0097p1-180 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Clinical, radiological and laboratory characteristics of thelarche variant: a retrospective analysis

Tamaro Gianluca , Lorenzon Beatrice , Burlo Francesca , Peinkhofer Martina , Faleschini Elena , Tornese Gianluca

Background: ‘Thelarche variant’ (TV), also known as ‘unsustained/slowly progressive puberty’ or ‘exaggerated thelarche’, is a term used to describe girls with premature thelarche and intermediate features between isolated premature thelarche (PT) and central precocious puberty (CPP). Despite being characterized by a FSH predominant response and by a peak LH response <5 IU/L to GnRH test, a univocal definition is lacking.<...

hrp0097p2-38 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Combined pituitary hormone deficiency caused by a missense de novo variant in FGFR1

Cavallaro Paola , Francesca Messina Maria , Aversa Tommaso , Pepe Giorgia , Wasniewska Malgorzata , Corica Domenico

Background: Heterozygous loss-of-function variants of fibroblast growth factor receptor 1 (FGFR1) are genetic causes of Combined Pituitary Hormone Deficiency (CPHD), Kallmann syndrome (KS) with anosmia/iposmia, Congenital Hypogonadotropic Hypogonadism (CHH) with normosmia and Septo-Optic Dysplasia. It is well-known that these variants are the main genetic factor underlying the development of CHH and KS; however, they have only occasionally been identified in C...

hrp0095p2-67 | Diabetes and Insulin | ESPE2022

Impact on metabolic control in pediatric patients with use of technology applied to type 1 diabetes

Gil Poch Estela , Babiano Benito Lucía , Javier Arroyo Díez Francisco

Background and Aims: The treatment of type 1 diabetes (T1D) requires a great involvement of the patient to achieve optimal blood glucose levels. Technological devices have been developed for individualized treatment, fewer interventions of the patient, and evidence of improved metabolic control. The aim of the study is to know data on metabolic control in a group of pediatric patients with T1D treated with new technologies, compared to patients treated with mu...

hrp0092p3-306 | Late Breaking Abstracts | ESPE2019

Improvement of Metabolic Control in Children with Type1 Diabetes Using Continuous Glucose Monitoring Devices

Gil-Poch Estela , Roco-Rosa María , Javier Arroyo-Díez Francisco

Introduction: Achieving metabolic control in children with type 1 diabetes (T1DM) is not an easy task. Despite the new profiles of insulins and therapies with continuous infusion, hypoglycemia continue to be the most important barrier that prevents us from correctly controlling these patients.Close control of capillary glycaemia is important for treatment adjustment. This self-control provides us with static information about capillary g...

hrp0089p3-p407 | Diabetes &amp; Insulin P3 | ESPE2018

Degludec Versus Glargine in Pediatric and Adolescent Patients with Type 1 Diabetes

Gil-Poch Estela , Javier Arroyo-Diez Francisco , Beato-Vibora Pilar I

Introduction: To optimal glycemic control without hypoglycemia must be the aim of insulin treatment for all patients with type 1 diabetes (T1DM). Despite the advantages of the basal-bolus insulin regimens with MDI, hypoglycemia presents a major barrier in achieving desirable blood glucose levels. Degludec is a new basal insulin analog with longer half-life and lower variability.Objetive: To investigate the differences between long-acting insulins glargin...

hrp0086p2-p285 | Diabetes P2 | ESPE2016

Permanent Neonatal Diabetes by Gene Mutation KCNJ11. Evolution and Treatment after Three Years with Sulphonylureas

Angeles Santos Mata Maria , Fernandez Viseras Irene , Torres Barea Isabel , Jose Macias Lopez Francisco , Catano Luis

Background: Permanent neonatal diabetes (PND)with heterozygous mutations of KCNJ11, respond to treatment with sulphonylureas. We report a case of PND in a baby, and mother previously mis-diagnosed with Type 1 DM. Both were switched from insulin to oral sulphonylureas. We evaluate the response and evolution.Case report: A male newborn at 37 weeks’ gestation, with a birthweight 2750 g (40thC) and length 48 cm (40thC), was admitte...