hrp0094p1-101 | Adrenal B | ESPE2021

The management of adrenal cell carcinoma in a single tertiary centre: 25 year experience

Goff Nicole , Hughes Claire , Katugampola Harshini , Mushtaq Imran , Hindmarsh Peter , Peters Catherine , Brain Caroline , Jorgensen Mette , Dattani Mehul ,

Background: Adrenal cortical carcinoma (ACC) in children is rare and aggressive, with the mainstay of treatment being surgical resection, although there have been recent improvements in outcomes with chemotherapy. Further characterisation of the presenting features and biochemical markers are needed to support earlier diagnosis. Refractory hypertension related to high cortisol concentrations prior to surgery, and post-operative decrease in cortisol can be chal...

hrp0094p1-166 | Growth B | ESPE2021

The BoneXpert adult height prediction method outperforms the Bayley and Pinneau method in tall male adolescents.

De Schepper Jean , Guisez Tanguy , Wijnand Justine , Cools Martine , Herregods Nele , Marieke den Brinker , Gielen Jan , Ernst Caroline , Gies Inge ,

Background and Aim: Adult height predictions by the manual Bayley and Pinneau (BP) method in tall boys have shown large confidence intervals up to a bone age of 15 years. The adult height (AH) BoneXpert prediction method, which is based on an automated bone age reading, has not been evaluated in tall adolescents. We therefore compared the bias between the manual BP method and the BoneXpert (BE) method in tall male Flemish adolescents.Pat...

hrp0097fc12.5 | Thyroid | ESPE2023

Teprotumumab in an adolescent with severe corticosteroid-resistant Graves ophthalmopathy: success but unexpected neurological manifestations

Atger-Lallier Laura , Elmaleh Monique , Pedron Beatrice , Storey Caroline , De Filippo Gianpaolo , Martinerie Laetitia , Leger Juliane , Carel Jean-Claude

Moderate to severe Graves ophthalmopathy (GO) is rare in children and most patients have mild GO. This complex inflammatory autoimmune disorder affecting the orbital fat and muscles is linked to circulating TSH receptor antibodies and involves the insulin-like growth factor-I receptor (IGF-IR) on orbital fibroblasts. Severe GO features include proptosis, diplopia and vision loss. Intravenous glucocorticoid pulse therapy is the first line medical treatment for moderate to sever...

hrp0097p1-506 | Growth and Syndromes | ESPE2023

Characteristics, effectiveness and safety data for patients with growth failure treated with recombinant IGF-1 and achieving adult or near-adult height: results from the Increlex® Global Registry

Bang Peter , Ramón Krauel Marta , Maghnie Mohamad , Woelfle Joachim , Sert Caroline , Perrot Valérie , Pennestri Daniele , Polak Michel

Background: severe primary insulin-like growth factor-1 deficiency (SPIGFD) is a rare growth disorder. Recombinant human insulin-like growth factor (IGF-1) (rhIGF-1; Increlex® [mecasermin]) replacement therapy is EU and US-approved for treating growth failure due to SPIGFD. The long-term therapeutic objective of rhIGF-1 treatment in SPIGFD is to improve adult height (AH). Objective: to describe the characteristics, safety and effectiveness data ...

hrp0097p1-511 | Growth and Syndromes | ESPE2023

Pathway to assess severe primary IGF-1 deficiency diagnosis by using the IGF-1 generation test in a real-life setting: data from the Global Increlex® Registry

De Schepper Jean , Bossowski Artur , Argente Jesús , Sert Caroline , Perrot Valérie , Pennestri Daniele , Bang Peter

Background: severe primary insulin-like growth factor-1 deficiency (SPIGFD) is a rare growth disorder, for which insulin-like growth factor-1 (IGF-1) generation test (IGFGT) is debated as a complementary diagnostic analysis. Diagnostic workup for SPIGFD varies geographically and diagnosis is delayed by the rarity of the condition (<1/10,000). Evaluation of real-world practices of IGFGT could help facilitate diagnosis and test use. Objective: to describe rea...

hrp0097p1-176 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Mechanism of mutagenesis and phenotype implications of small indels in the Androgen Receptor gene in Androgen Insensitivity Syndrome

Loch Batista Rafael , Ramos Raquel , Caroline Afonso Ana , Petroli Reginaldo , Tereza Ferrari Maria , Domenice Sorahia , Nishi Mirian , Mendonca Berenice

Indels are highly abundant in human genomes and have contributed massively to genome evolution. However, the role of indels and their underlined mechanisms of mutagenesis in Mendelian disorders still needs to be appreciated. To explore the contribution of indels in a monogenic disorder, we analyzed all indels already described in the AR gene, including three novel indels found in our cohort. We analyzed the indel distribution through the AR coding region, compared wit...

hrp0098p1-63 | Growth and Syndromes 1 | ESPE2024

Long-term effectiveness and safety data from the Global Increlex® Registry in patients treated with rhIGF-1: Subgroup analysis of naïve pre-pubertal patients and patients with Laron syndrome

Ramón Krauel Marta , Woelfe Joachim , Polak Michel , Maghnie Mohamad , Beń-Skowronek Iwona , Sert Caroline , Perrot Valérie , Bang Peter

Background: The Global Increlex® Registry (NCT00903110) monitors real-world safety and effectiveness of recombinant human insulin-like growth factor (rhIGF-1; Increlex® [mecasermin]) in severe primary IGF-1 deficiency (SPIGFD). Patient characteristics, effectiveness and safety data from 2008–2023 are described.Methods: Descriptive analyses of registry data from children/adolescents age...

hrp0098p1-99 | Thyroid 1 | ESPE2024

Transient congenital hypothyroidism in a newborn with congenital goiter and compound heterozygosity for thyroglobulin

Nauwynck Elise , Gheldof Alexander , Vanden Eynde Nathalie , Vanbesien Jesse , Depoorter Sylvia , Oosterlynck Caroline , Staels Willem , Gies Inge , De Schepper Jean

Background & aim: Biallelic thyroglobulin (TG) gene variants can cause congenital hypothyroidism (CH), usually presenting with neonatal goiter and permanent in duration. In cases where biallelic truncating TG variants are present, serum TG levels are undetectable, while monoallelic or biallelic missense mutations manifest with circulating TG. Here, we present a case of transient CH resulting from TG deficiency, stemming from compound heterozygosity for a m...

hrp0082p2-d2-604 | Thyroid (1) | ESPE2014

Levothyroxine Requirement in Congenital Hypothyroidism: 12-year Longitudinal Study

Vigone Maria Cristina , Lapolla Rosa , Delvecchio Maurizio , Salerno Mariacarolina , Wasniewska Malgorzata , Popolo Pietro Pio , Mussa Alessandro , Tronconi Giulia Maria , Di Mase Raffaella , D'Acunzo Ida , Falcone Rosa Maria , Corrias Andrea , De Luca Filippo , Weber Giovanna , Cavallo Luciano , Faienza Maria Felicia

Background: The replacement therapy with levo-thyroxine (LT4) in congenital hypothyroidism (CH) aims to ensure normal growth and neuropsychological development. Few data are available about the appropriate dose during childhood and early adolescence.Objective and hypotheses: i) To evaluate LT4/kg per day requirement from diagnosis until 12 years of age; ii) to assess any differences in relation to the different etiology of CH as concern...

hrp0084p3-717 | Diabetes | ESPE2015

Seip-Berardinelli Syndrome in a Patient Referred by Low Weight Gain

Kopacek Cristiane , Beltrao Luciana Amorim , Guimaraes Victoria Bernardes , Trombetta Julia Santana , Lliguin Karen Lizeth Puma , Rosa Rosana Cardoso Manique , de Mattos Vinicius Freitas , Graziadio Carla , Zen Paulo Ricardo Gazzola , Rosa Rafael Fabiano Machado

Background: Seip-Berardinelli syndrome is a rare form of congenital lipodystrophy.Objective and hypothesis: To report a patient later diagnosed with Seip-Berardinelli syndrome referred initially for evaluation due to low weight gain.Population and/or methods: We performed the report of the case along with a literature review.Results: The patient was referred due to low weight gain. She was the second daughter...