hrp0084p2-254 | Diabetes | ESPE2015

Can We Rely on Finger Stick Haemoglobin A1c? Comparison of Levels Assayed by DCA 2000 with IFCC Reference Method in a Paediatric Cohort

Tornese Gianluca , Milic Nadia , Spetti Laura , Gembrini Daniela , Loganes Carmen , Pellegrin Maria Chiara , Radillo Lucia , Radillo Oriano , Faleschini Elena , Ventura Alessandro

Background: DCA 2000 is still a very popular device to determine HbA1c levels in diabetes practices through a finger stick. It allows clinicians to give immediate feedback to patients and to make changes in diabetes management during the three-monthly assessment.Objective and hypotheses: To compare HbA1c values measured with DCA 2000 with corresponding values measured with IFCC (considered as the reference method) in a single paediatric centre, to assess...

hrp0084p2-562 | Thyroid | ESPE2015

Thyroid Dysfunction is Associated with Biochemical Markers of Non Alcoholic Fatty Liver Disease in Paediatric Population

Loureiro Carolina , Martinez Alejandro , Campino Carmen , Correa Paulina , Mendoza Carolina , Carrillo Diego , Aglony Marlene , Bancalari Rodrigo , Carvajal Cristian , Fardella Carlos , Garcia Hernan , Grob Francisca

Background: Thyroid dysfunction is a common condition in children and has been associated with metabolic syndrome, hypertension, cardiovascular disease and mortality. Due to the obesity epidemic in paediatric population exists a higher prevalence of nonalcoholic fatty liver disease (NAFLD), a condition associated with insulin resistance and metabolic syndrome. In adults it has been observed that elevated TSH, even within the normal range, are positively correlated with increas...

hrp0084p3-606 | Adrenals | ESPE2015

Familial Hyperaldosteronism Type 1 in an Infant without Hypertension: How Important Could be the Early Treatment with Hydrocortisone?

Martinez-Aguayo Alejandro , Mendoza Carolina , Loureiro Carolina , Campino Carmen , Carvajal Cristian , Baudrand Rene , Rumie Hana , Bancalari Rodrigo , Garcia Hernan , Vecchiola Andrea , Valdivia Carolina , Fardella Carlos

Background: Familial hyperaldosteronism type 1 (FH-1), is caused by the presence of a chimeric CYP11B1/CYP11B2 gene that produces high amounts of aldosterone in response to ACTH and severe hypertension. An early diagnosis and treatment are important, not only to manage hypertension but also to avoid possible deleterious effects of aldosterone on the endothelium and cardiovascular diseases.Clinical case: A 3 months old boy was referred for evalua...

hrp0084p3-821 | Endocrine Oncology | ESPE2015

Primary Hypogonadism after Haematopoietic Stem Cell Transplant in Paediatric Patients with Cancer

Alemany Maria Del Carmen De Mingo , Orti Raquel Segovia , Macian Francisca Moreno , Carinena Sara Leon , Moreno Maria Del Mar Andres , Navarro Jose Maria Fernandez

Background: Gonadal function is altered up to 25% in patients who suffered cancer in childhood. Cryopreservation of ovarian tissue (COT) is an option for preserving fertility.Aims and objective: To establish the prevalence of primary hypogonadism (PH) in children with cancer after hematopoietic cell transplantation (HCT). To analyse the variables that predict progression to PH.Methods: Retrospective cohort study. Patients aged 0 to...

hrp0094fc6.4 | Bone and Mineral Metabolism | ESPE2021

Use of Aids, Assistive Devices and Adaptations (AADAs) by Individuals Aged <25 Years with Fibrodysplasia Ossificans Progressiva (FOP): 36-Month Results from a Global Natural History Study (NHS)

Hsiao Edward C. , Pignolo Robert J. , Baujat Genevieve , Brown Matthew A. , De Cunto Carmen , Keen Richard , Mukaddam Mona Al , Marino Rose , Houchard Aude , Kaplan Frederick S. ,

Background: Individuals with the ultra-rare genetic disorder FOP experience progressive heterotopic ossification. Median age at diagnosis is 5 years; patients are supported by multiple specialties. Most patients become immobilised by the third decade of life, requiring lifelong assistance. We characterise AADA use as an indicator of disease severity in younger individuals with FOP enrolled in a 36-month, prospective, global NHS (NCT02322255).<p class="abst...

hrp0094p1-51 | Bone B | ESPE2021

A Global Natural History Study (NHS) of Fibrodysplasia Ossificans Progressiva (FOP): Normal Long Bone Growth and Abnormalities in Younger Patients over 36 Months

Pignolo Robert J. , Baujat Genevieve , Brown Matthew A. , Cunto Carmen De , Hsiao Edward C. , Keen Richard , Mukaddam Mona Al , Marino Rose , Houchard Aude , Kaplan Frederick S. ,

Background: FOP is an ultra-rare, severely disabling genetic disorder characterised by progressive heterotopic ossification. The median age at diagnosis is 5 years and patients are supported by multiple specialties. We describe normal long bone growth changes and incidence of bone abnormalities in participants with FOP aged <18 years in a 3-year, prospective, global NHS (NCT02322255).Methods: Individuals with FOP age...

hrp0097p1-43 | Diabetes and Insulin | ESPE2023

Our experience in neonatal diabetes mellitus: clinical and molecular characterisation

Salamanca Fresno Luis , Gomes Porras Mariana , Pozo Román Jesús , Del Pozo Ángela , Rodríguez Jiménez Carmen , González Casado Isabel , Campos Barros Ángel

Introduction: Neonatal Diabetes Mellitus (NDM) is characterised by severe hyperglycaemia, usually diagnosed in the first 6 months of life. Genetic diagnosis helps distinguishing between its different causes and between transient (TNDM) and permanent (PNDM) forms, with repercussions on the therapeutic approach and follow-up.Aim: Clinical and molecular characterisation of a series of NMD cases under endocrinological follow...

hrp0097p1-328 | Growth and Syndromes | ESPE2023

CEP57 variant associated with MVA2 syndrome in two Moroccan brothers

Recupero Salvatore , Mascaro Rossella , Palmoni Monica , Meroni Silvia , Bucolo Carmen , Finamore Martina , Ferri Chiara , Rizzi Alessia , Lia Magnacavallo Anna , Grazia Patricelli Maria , Zuffardi Orsetta , Barera Graziano , Pozzobon Gabriella

Mosaic variegated aneuploidy (MVA) syndrome represents a rare autosomal recessive disease characterized by aneuploidies with gain and loss of multiple chromosomes. We describe case of two Moroccan brothers with MVA2, due to CEP57 mutations. Patients are 17 and 13-year-old male siblings of a Moroccan healthy consanguineous couple. Oldest brother was delivered at 35 gestational weeks after IGR diagnosis, small for gestational age (SGA, 1300 grams, -3 SDS). Younger patient’...

hrp0097p1-362 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Case Report: rare case of genetic neurohypophyseal diabetes insipidus associated with congenital hypopituitarism: when the fluid deprivation test does not make the diagnosis

Ferri Chiara , Palmoni Monica , Finamore Martina , Mascaro Rossella , Polenzani Ilaria , Rizzi Alessia , Magnacavallo Annalia , Meroni Silvia , Bucolo Carmen , Barera Graziano , Pozzobon Gabriella

Six-year-old female, diagnosed with GH deficiency at another Center (H: -3.13SDS; H peak with clonidine 5.7ng/mL, with insulin 1.2ng/mL). Brain MRI at diagnosis: small pituitary gland, ectopic neurohypophysis, normal stalk, right internal carotid artery aplasia. At 10 years onset of polyuria-polydipsia syndrome (PPS) (4L/day–154ml/kg/die); mood disorders and ADHD diagnosis were also reported. A fluid deprivation test was performed, lasting 22 hours (pre: S-Osm 275mOsm/L,...

hrp0097p2-26 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Craniopharyngioma-related hypothalamic obesity: efficacy of bariatric surgery in two adolescents

Polenzani Ilaria , Ferri Chiara , Finamore Martina , Palmoni Monica , Mascaro Rossella , Magnacavallo Annalia , Rizzi Alessia , Sardella Dario , Barera Graziano , Pozzobon Gabriella , Meroni Silvia , Bucolo Carmen

Although craniopharyngiomas are low-grade tumours, long-term survivors frequently suffer from severe morbidity due to hypothalamic lesions, such as hypothalamic obesity, that is largely resistant to lifestyle modification and pharmacotherapy. We investigated the efficacy of bariatric surgery in two patients with craniopharyngioma-related hypothalamic obesity during 18 months of follow-up. Patient n1, diagnosed with craniopharyngioma and treated with complete surgical excision ...