Scientific Programme & Abstracts from the International Meeting in Pediatric Endocrinology (IMPE)

IMPE Abstracts

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Page 14 of about 409 results

impe0096fc12.1 | GH and IGFs 2 | IMPE2023

Does early treatment with recombinant human growth hormone impact in visual assessment?

Braslavsky Debora , Keselman Ana , Gabriela Ballerini Maria , Cappa Nicolas , Negrete Gabriel , Dech Gaston , Rosenbrock Solange , Ropelato Gabriela , Gamio Susana , Bergadá Ignacio

Background: Current safety of Recombinant human growth hormone (rhGH) treatment arises mainly from postmarketing surveillance. Headache is a relatively frequent symptom in children under rhGH. Secondary intracranial hypertension (SIH), is an adverse effect (AE), usually occurring within the first 12 weeks of treatment associated to headaches. Permanent visual defects are the most feared complication. Scarce information exists regarding incidence and natural hi...
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impe0096fc12.2 | GH and IGFs 2 | IMPE2023

PDE5 inhibitors may reverse the effects of isolated growth hormone deficiency caused by alternate splicing of the GH1 gene.

V Pandey Amit , Martinez de LaPiscina Idoia , Natalia Rojas Velazquez Maria

Mutations in the GH1 gene cause isolated growth hormone deficiency (IGHD) by affecting the production, secretion, and stability of growth hormone as well as its binding to GHR. Genetic mutations resulting from splicing errors are known to increase the production of a small 17.5 kD isoform of human growth hormone. The smaller isoform of GH1 is inactive and is linked to IGHD. We found that cells transfected with the mutated GH gene that produced the short 17.5 kD version of GH, ...
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impe0096fc12.3 | GH and IGFs 2 | IMPE2023

An in vivo functional assay to characterize human STAT5B genetic variants during zebrafish development

Landi Estefania , Karabatas Liliana , Rodriguez Gomez Tomas , Scaglia Paula , Ramirez Laura , Keselman Ana , Braslavsky Debora , Sanguineti Nora , Pennisi Patricia , Rey Rodolfo , Bergada Ignacio , Jasper Hector , Domené Horacio , Viviana Plazas Paola , Domené Sabina

Human growth is highly dependent on the GH-IGF-I axis. GH binding to GH receptor activates janus kinase 2 (JAK2)-signal transducer and activator of transcription 5b (STAT5b) pathway which stimulates transcription of IGF1, IGFBP3, and IGFALS. Although STAT5b deficiency was established as an autosomal recessive disorder, heterozygous dominant-negative STAT5B variants were reported in patients with less severe growth deficit and milder immune dysfunction. Our aim was to develop a...
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impe0096fc12.4 | GH and IGFs 2 | IMPE2023

In vitro funcional characterizationof two novel missense IGF1 variants

Celia Fernández Maria , Gabriela Rampi Maria , Martin Ayelen , Clément Florencia , Pennisi Patricia

Insulin-like growth factor 1 (IGF1) plays key roles in promoting growth, during both pre- and post-natal life and regulating neurologic development in mammals. IGF1 gene mutations are extremely rare causes of pre- and post-natal growth retardation. Phenotype can be heterogenous with varying degrees of neurosensory deafness, cognitive defects, glucose metabolism impairment and short stature. We have previously described two patients with novel homozygous IGF1missense v...
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impe0096fc13.1 | Adrenals and HPA Axis 2 | IMPE2023

Retrospective Analysis of Prognostic Factors in Pediatric Patients with Adrenocortical Tumor from Unique Tertiary Center with Long-Term Follow-up

Bachega Fernanda , Suartz Caio , Almeida Madson , Brondani Vania , Charchar Helaine , Lacombe Amanda , Martins-Filho Sebastião , Soares Iberê , Claudia Zerbini Maria , Dénes Francisco , Mendonca Berenice , Lopes Roberto , Claudia Latronico Ana , Candida Fragoso Maria

The estimated global prevalence of pediatric adrenocortical tumors (PACTs) is 0.5 cases/million population. However, malignant adrenocortical carcinomas is rare and accounts for 0.2% of all childhood malignancies, with considerable variability in incidence rates per different geographical areas. The south/southeast regions of Brazil are known to have a high incidence of PACTs because of the founder effect associated with a germline pathogenic variant of tumor suppressor gene T...
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impe0096fc13.2 | Adrenals and HPA Axis 2 | IMPE2023

Pubertal Outcome of 54 Children and Adolescents Treated For Adrenocortical Tumor: A Half of a Century Experience

Bora Moleta Fernanda , Cláudia Schimitt Lobe Maria , Costa Lima Lichtvan Leniza , Nesi França Suzana , de Lacerda Filho Luiz , Marques Pereira Rosana

Introduction: Vast majority of children and adolescents with adrenocortical tumor (ACT) present clinical signs of androgen excess. Long-term exposure to sex steroids can activate the GnRH pulse generator and trigger central precocious puberty, as shown in treated 21-hydroxilase deficiency, McCune-Albright syndrome and testotoxicosis. ACTs are rare in pediatric patients and, therefore, the knowledge about characteristics of pubertal outcome after tumor resectio...
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impe0096fc13.3 | Adrenals and HPA Axis 2 | IMPE2023

Differential methylation of CYP11B1 in girls with high DHEAS levels

Rodríguez Fernando , Ponce Diana , Patricio Miranda José , Luis Santos José , B. Cutler Jr Gordon , Pereira Ana , Iñiguez Germán , Mericq Verónica

Context: Premature adrenarche in girls is defined biochemically by an increase in adrenal androgen (DHEA and DHEAS) levels above the age-specific reference range before age 8 years. Recently, increased levels of 11-oxyandrogens have also been observed in girls with premature adrenarche. On the other hand, epigenetic control of some genes that code for enzymes that participate in the synthetic pathway to 11-oxyandrogens (e.g., CYP11B1) has been describ...
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impe0096fc13.4 | Adrenals and HPA Axis 2 | IMPE2023

Comparing the single cell transcriptome of wild-type and 21-hydroxylase deficient murine adrenal glands

Graves Lara , Aryamanesh Nader , Srinivasan Shubha , Ginn Samantha , Alexander Ian

The adrenal cortex undergoes constant cellular turnover: capsular stem cells give rise to cortical progenitor and differentiated steroidogenic cells of the zona glomerulosa (zG). Despite knowledge of their existence, little is known about these progenitor populations and have not previously been identified in single cell RNA sequencing (scRNA-Seq) transcriptomic analysis. We postulated that additional ACTH stimulation in the context of 21-hydroxylase deficiency may affect the ...
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impe0096fc14.1 | Miscellaneous Growth | IMPE2023

Inborn Errors of Protein Metabolism: Longitudinal Data on Growth, Puberty, Bone Mineralisation, and Body Composition

Busiah Kanetee , Roda Célina , Crosnier Anne-Sophie , Brassier Anaïs , Servais Aude , Wicker Camille , Ottolenghi Chris , Pontoizeau Clément , Souberbielle Jean-Claude , Piketty Marie-Liesse , Perin Laurence , Le Bouc Yves , Arnoux Jean-Baptiste , Imbard Apolline , Netchine Irène , de Lonlay Pascale

Background: Many inherited amino-acid metabolism disorders (IAAMDs) require lifelong restriction of natural dietary proteins. An adequate protein intake is crucial to ensure normal body development, notably during puberty. We investigated whether a protein-restricted diet was associated with growth, pubertal, bone mineral density (BMD) or body composition impairments.Methods: In this retrospective longitudinal study, we ...
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impe0096fc14.2 | Miscellaneous Growth | IMPE2023

Abstract Withdrawn...
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