hrp0094p2-37 | Adrenals and HPA Axis | ESPE2021

Congenital Adrenal Hyperplasia caused by compound heterozygosity of two novel CYP11B1gene variants.

Fylaktou Eirini , Smyrnaki Smyrnaki Penelope , Sertedaki Amalia , Kanaka-Gantenbein Christina ,

Introduction: Congenital Adrenal Hyperplasia (CAH) is an autosomal recessive disorder caused by pathogenic variants in seven genes involved in the cortisol and aldosterone biosynthetic pathway. The second most common cause of CAH, 11β-hydroxylase deficiency (11βOHD), is attributed to pathogenic variants in the CYP11B1gene encoding for the enzyme 11β-hydroxylase (11βOH).Case presentation: A thirteen-year-old g...

hrp0097p1-201 | Adrenals and HPA Axis | ESPE2023

Molecular characterization of TNXA/TNXB chimeras in cases carrying deletion of the CYP21A2 gene: High incidence of chimeras identified.

Fylaktou Irene , Mertzanian Anny , Sertedaki Amalia , Kanaka-Gantenbein Christina

Introduction: CAH-X syndrome refers to a subset of Congenital adrenal hyperplasia (CAH) patients who display the hypermobility phenotype of Ehlers–Danlos syndrome (hEDS) due to the monoallelic/biallelic presence of a CYP21A2 deletion extending into the TNXB gene (chimeric TNXA/TNXB gene). To date, three different TNXA/TNXB chimeras have been described, CH-1 (presence of a TNXA-derived 120bp deletion in exon 35 of the <...

hrp0082p2-d2-281 | Adrenals &amp; HP Axis (1) | ESPE2014

Nonclassic CYP21A2 Deficiency: Diagnosis and Clinical Evolution

Luzuriaga Cristina , Bertholt Maria Laura , Naranjo Cristina , Ezquieta Begona

Background: The nonclassic congenital adrenal hyperplasia (CAH) is often presented as isolated premature pubarche in childhood. Definitive diagnosis is genetic.Objective and hypotheses: To describe patients diagnosed in our hospital, clinical signs and laboratory results that lead to genetic study. To analyze adult height.Method: Descriptive retrospective study of our population with genetic confirmation.Resu...

hrp0092p3-114 | Fat, Metabolism and Obesity | ESPE2019

Rare Case of Acquired Generalized Lipodystrophy in A 14-Year Old Patient

Cristina Patricia Dumitrescu , Monica Mailat

Background: Lipodystrophies are a group of rare disorders characterized by varying degrees of body fat loss. The metabolic abnormalities associated with lipodystrophy include insulin resistance, often leading to diabetes mellitus, hypertriglyceridemia that may be severe enough to cause acute pancreatitis and hepatic steatosis that may lead to cirrhosis.They can be either genetic or acquired, generalized or partial. Acquired generalized l...

hrp0097p1-512 | Growth and Syndromes | ESPE2023

Growth and final height of adolescents with systemic juvenile idiopathic arthritis in the transitional age: a monocentric case series

Cristina Maggio Maria , Corsello Giovanni

Introduction: Systemic Juvenile Idiopathic Arthritis (sJIA) is an autoinflammatory disease, characterized by the association of arthritis with fever, often accompanied by rash, generalized lymphadenopathy, hepatosplenomegaly, and serositis. The diagnosis requires adequate exclusion of infectious, autoimmune, autoinflammatory, and oncologic diseases. These patients need to be treated with glucocorticoids plus biologic drugs, anti-IL-1 or anti-IL-6 monoclonal an...

hrp0089rfc6.3 | Fat, Metabolism and Obesity | ESPE2018

Effect of the Melanocortin-4 Receptor Agonist, Setmelanotide, on Obesity and Hyperphagia in Individuals Affected by Bardet-Biedl Syndrome

Haws Robert M , Fletty Kristina L , McIntee Thomas J , Green Clayton , Pomeroy Jeremy , Hylan Michelle , Folster Cathy , Davis Elisabeth K , Brady Sheila M , Fiedorek Fred T , Yanovski Jack A

Background: Bardet-Biedl syndrome (BBS) causes early-onset extreme obesity and hyperphagia that is hypothesized to arise from leptin receptor dysfunction. Setmelanotide, a melanocortin-4 receptor (MC4R) peptide agonist, has been shown to induce weight loss in individuals affected by other rare genetic obesity disorders resulting from leptin-melanocortin pathway dysfunction upstream of MC4R.Objective: Report preliminary data on body weight, hunger scores,...

hrp0094fc4.2 | Diabetes | ESPE2021

A Randomised Controlled Cross-Over Trial of the Hybrid Closed-Loop Insulin Delivery System Diabeloop vs. Sensor-Augmented Pump Therapy in Children Aged 6-12 Years

Kariyawasam Dulanjalee , Morin Carole , Casteels Kristina , Tallec Claire Le , Sfez Annie , Godot Cecile , Huneker Erik , Garrec Nathalie , Polak Michel , Charpentier Guillaume , Franc Sylvia , Beltrand Jacques ,

Introduction: HbA1C goals are rarely achieved in children with Type 1 diabetes (T1D) except at the cost of increased hypoglycaemia episodes. The Diabeloop Hybrid Closed-Loop system improves time in range and glycemic control in adults. However, the efficacy and safety of the system had not yet been evaluated in children. Our objective was to evaluate the safety and efficiency of the Diabeloop hybrid closed-loop system in prepubescent children (DBL4K).<p cl...

hrp0086p2-p952 | Thyroid P2 | ESPE2016

Congenital Malformations, Dysmorphic Syndromes and Neurodevelopmental Problems in Children with Congenital Hypothyroidism

Gkini Marianthi , Gika Anna , Iliadi Alexandra , Platis Dimitris , Giogli Vasiliki , Tataropoulou Kasandra , Paltoglou Giorgos , Kogia Christina , Karagiannis Apostolos , Chrousos George , Girginoudis Panagiotis , Kanaka-Gantenbein Christina , Voutetakis Antonis

Background: A high frequency of extrathyroidal congenital anomalies has been reported in infants with congenital hypothyroidism (CH) detected by neonatal screening. Current ESPE guidelines suggest that congenital malformations, underlying dysmorphic syndromes and psychomotor and language development should be sought for and monitored in CH patients. The identification of co-existing nosologies and malformations is helpful not only for clinical purposes but also for uncovering ...

hrp0095p1-104 | GH and IGFs | ESPE2022

SARS-CoV-2 pandemic and GH treatment: new strategies to abate the distance

Corsello Giovanni , Campa Luigi , Cristina Maggio Maria

SARS-CoV- 2 pandemic induced to develop new strategies to abate the distance between patients, families and paediatricians, especially in cases of patients who need long-term therapies. Furthermore, the need to minimize the inflow of children and adolescents affected by chronic diseases into the hospitals induced paediatric endocrinologists to limit visits and to consider a new setting to assist children in treatment with growth hormone (GH). Telemedicine and smart-working cou...

hrp0095p1-150 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Pubertal dysfunctions in intracranial germ cell tumours

Partenope Cristina , Carceller Fernando , Albanese Assunta

Introduction: Paediatric intracranial germ cell tumours (IC-GCTs) are often accompanied by precocious or delayed puberty, either at diagnosis caused by tumour itself or during follow-up as consequence of treatments.Aims: We examined the prevalence of pubertal dysfunctions in a cohort of paediatric patients with IC-GCTs at diagnosis and during follow-up.Methods: We recorded clinical...