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

IMPE Abstracts

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Page 12 of about 409 results

impe0096fc7.1 | Bone and Growth | IMPE2023

Encaleret (CLTX-305) Normalized Mineral Homeostasis Parameters in Patients with Autosomal Dominant Hypocalcemia Type 1 over 12 months in a Phase 2 Study (NCT04581629)

I Gafni Rachel , R Hartley Iris , L Roszko Kelly , F Nemeth Edward , A Pozo Karen , P Boykin Winsome , S Mathew Arun , Scott Roberts Mary , H Adler Scott , T Collins Michael

Autosomal dominant hypocalcemia type 1 (ADH1), caused by gain-of-function variants in the calcium-sensing receptor (CaSR) gene, is characterized by low parathyroid hormone (PTH), hypocalcemia, hypercalciuria, hyperphosphatemia, and hypomagnesemia. Patients usually present in childhood, at a median age of 4y, often with severe symptoms of hypocalcemia. Conventional therapy (calcium and active vitamin D) worsens hypercalciuria and can lead to renal morbidity. Calcilytics that ac...
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impe0096fc7.2 | Bone and Growth | IMPE2023

A new genetic cause of overgrowth syndrome

Hee Jee Youn , Wagner Jacob , Zhou Elaine , Dong Lijin , Barnes Kevin , Lui Julian , Baron Jeffrey

Pathogenic genetic variants in epigenetic regulatory proteins can cause overgrowth syndromes, such as Sotos syndrome due to mutations in NSD1 or Weaver syndrome due to mutations in EZH2. The identified genes encode DNA or histone methyltransferases, primarily serving as epigenetic writers. However, no overgrowth disorder has previously been described in a gene that acts primarily as an epigenetic reader. We studied a 13-year-old male patient with generalized overgrowth of pren...
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impe0096fc7.3 | Bone and Growth | IMPE2023

Serum phosphorus levels as a driver of skeletal morbidity in patients with fibrous dysplasia

Hasan Gun Zubeyir , Szymczuk Vivian , Taylor Jocelyn , III Osamor Charles , Boyce Alison

Objectives: Fibrous dysplasia (FD) is a rare disorder resulting in fractures, pain, and skeletal deformities. Abnormal osteoprogenitor cells produce excess FGF23, leading to hyperphosphaturia in most patients and frank hypophosphatemia in a smaller subset. Studies suggest that FGF23-mediated hypophosphatemia is associated with increased FD-related morbidity. However, the relationship between serum phosphorus levels and skeletal complications has not been inves...
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impe0096fc7.4 | Bone and Growth | IMPE2023

Growth Hormone and Testosterone Improve Growth, Initiate Puberty, and Protect Against Vertebral Fractures in Children with Muscular Dystrophy on Chronic Glucocorticoids

Loscalzo Emely , See Julia , Bharill Sonum , Yousefzadeh Nazanin , Gough Ethan , Wu Malinda , Crane Janet

Duchenne and Becker’s Muscular Dystrophy are X-linked progressive muscular disorders caused by mutations in dystrophin, leading to progressive muscle weakness. Glucocorticoids prolong ambulation and lifespan but cause significant endocrine complications. We assessed the prevalence of growth impairment, pubertal delay, and osteoporosis, along with the impact of growth hormone (GH), testosterone, and/or bisphosphonate in a longitudinal study of 27 males with dystrophinopat...
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impe0096fc8.1 | Thyroid 1 | IMPE2023

ABSTRACT WITHDRAWN...
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impe0096fc8.2 | Thyroid 1 | IMPE2023

Overexpression of Brachyury and IGF1R in Thyroid Papillary Carcinoma cells: different phenotypes and asocciation with pediatric Thyroid Nodular Pathology

Martin Ayelen , Celia Fernandez María , Miraglia Sofía , Medín Martín , Papendieck Patricia , Clément Florencia , De Matteo Elena , Chiesa Ana , Pennisi Patricia

In pediatrics, thyroid tumor stratification is difficult to assess. Epithelial-mesenchymal transition (EMT), plays a role in tumor development. In human carcinomas Brachyury (Brachy) has been identified as a regulator of EMT associated to malignancy. The Insulin Like Growth Factors (IGFs) are mitogens that play important roles in both normal and neoplastic growth. To date, no information about Brachy and IGF1R expression in pediatric thyroid nodular disease is available.<p...
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impe0096fc8.3 | Thyroid 1 | IMPE2023

Sensitivity to thyroid hormones and cardiometabolic risk in euthyroid obese children: a cross-sectional study.

Wasniewska Malgorzata , Tropeano Angelo , Corica Domenico , Curatola Selenia , Li Pomi Alessandra , Alibrandi Angela , Pepe Giorgia , Aversa Tommaso

Background: The typical biochemical phenotype related to obesity, that is high serum TSH within normal range, low/normal free thyroxine (FT4) and increased free triiodothyronine (FT3) levels, can be interpreted as a resistance to thyroid hormones. It is unclear the role played by thyroid hormones in the pathogenesis of metabolic derangement associated with obesity.Aim: To investigate the association between thyroid hormo...
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impe0096fc8.4 | Thyroid 1 | IMPE2023

Custom next generation sequencing panel identifies somatic mutations and gene fusions in pediatric papillary thyroid carcinoma

Ramirez Pablo , Perez Garrido Natalia , Dujovne Noelia , Gazek Natalia , Trobo Sofia , Saraco Nora , Juanes Matias , Garcia Francisco , Aschettino Giovanna , Lopez Marti Jessica , Herzovich Viviana , Belgorosky Alicia , Marino Roxana

Thyroid cancer is rare in childhood accounting for 0–3% of all pediatric malignancies. Children with thyroid cancer demonstrate higher rates of cervical lymph node involvement and pulmonary metastases, the long-term outcome is rather favorable and mortality rate is low compared with adults. An increasing incidence of the disease has been observed in the last years. There is not enough evidence about the molecular mechanisms implicated and the correlation with prognosis a...
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impe0096fc9.1 | Endocrinology of Sex Differences 2 | IMPE2023

Uncovering the role of the SF-1/NR5A1 p.Gly146Ala variant for the phenotype of DSD patients

Martinez de Lapiscina Idoia , Kouri Chrysanthi , Aurrekoetxea Josu , Sanchez Mirian , Naamneh Rawda , Sommer Grit , Sauter Kay , Camats Nuria , Grau Gema , Rica Itxaso , Rodriguez Amaia , Vela Amaia , Cortazar Alicia , Concepción Alonso M , Bahillo Pilar , Berthod Laura , Esteva Isabel , Castaño Luis , E Flück Christa

Background and Aim: The SF-1/NR5A1 variant c.437G>C/p.Gly146Ala is common among individuals with disorders/differences of sex development (DSD). It has been considered a polymorphism due to its high allele frequency in the control population (23.5%, gnomAD) and its lack of negative effect in cell-based studies. However, its possible role as a disease modifier is still unclear given that oligogenic inheritance has been described in patients with SF1...
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impe0096fc9.2 | Endocrinology of Sex Differences 2 | IMPE2023

Self-reported Feelings of Adult Patients with Differences of Sex Development (DSD) Regarding Genital Surgical Procedures

Lousada Lia , Domenice Sorahia , Costa Elaine , Bachega Tania , Batista Rafael , Mendonça Berenice

Introduction: Differences of sexual development (DSD) define congenital diseases in which there is an atypical development of chromosomal, gonadal or anatomical sex, and may present varying degrees to genital atypia. There has been a discussion about the ideal time for surgical approach of atypical genitalia. Some non-governmental entities argue that the surgical approach should be delayed until adulthood after the patient's consent. Objective/methodology...
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