ESPE Abstracts

Introduction: Subacute thyroiditis or De Quervain’s Thyroiditis is a self-limited inflammatory thyroid disease that is considered to be caused by a viral infection. Its incidence during the first decade of life is extremely rare. During the acute phase of the disease which lasts 2 to 6 weeks, the inflammatory process results in a temporary release of thyroid hormone with biochemical hyperthyroidism with or without symptoms. This phase is followed by a period with failing ...

Introduction: Le diabète de type 1 est l’endocrinopathie la plus fréquente chez l’enfant. Son incidence est en nette progression dans le monde. L’enfant diabétique nécessite une hygiène de vie adaptée et le suivi par une équipe pluridisciplinaire composée de pédiatre spécialiste en diabétologie, psychologue, diététicien, infirmier spécialisé.Objectif: Determiner les...

Background: The clinical phenotype of the chromosome 2q31 deletion syndrome consists of a variety of limb abnormalities and other skeletal defects, craniofacial dysmorhic features, developmental delay, and other not specific congenital anomalies.Objective and hypotheses: To describe a patient with 2q31.1 microdeletion syndrome and short stature, diagnosed with GH deficiency.Method: We describe a 5 years and 4 months girl with devel...

Background: Septo-optic dysplasia (SOD) is a rare congenital anomaly, clinically heterogeneous, combining optic nerve and pituitary gland hypoplasia, midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum. The diagnosis is made when two or more features of the classic triad are present. HESX1, SOX2, SOX3, FGF8, FGFR1, PROKR1, SHH, are implicated in the etiology of SOD.Objective and hypotheses: Description of a ...

Background: We report clinical and molecular cytogenetic characterization of a 13-year-7-month-old boy with a Sotos-like phenotype and de novo NFIX deletions and review the literature.Result: A whole exome sequencing revealed in the present patient with unique clinical phenotypes a de novo frameshift mutation c.570-573delATCA (p.S191Ifs*19) in NFIX gene in 19p13.2.Discussion: The p...

Introduction: X-linked hypophosphatemic rickets (XLH) is characterized by a mineralization disorder in the growth plate and cortical and trabecular bones, resulting in bone deformities with anthropometric changes and potential alterations in body composition.Objective: To evaluate the body composition of 12 children and adolescents with XLH compared to healthy controls by anthropometric and densitometry data.<p class...

Background: Pregnancy associated plasma protein (PAPP)-A2 is an insulin-like growth factor (IGF) binding protein (BP) protease that regulates IGF-1 availability, affecting postnatal growth. We have recently reported the first mutations in human PAPP-A2 causing short stature and changes in bone size and mineral density. However, the IGF system is involved in diverse physiological functions and to date it is unknown how mutations in PAPP-A2, which significantly reduce f...

Background: The TRH receptor (TRHR) is a G-protein coupled receptor activated by hypothalamic TRH. In thyrotropes, TRH-TRHR signalling controls synthesis, secretion and bioactivity of TSH. Human TRHR defects are extremely rare, and only three cases are known with central hypothyroidism and short stature as variable presenting feature.Objective and hypotheses: Phenotypical characterization of a family with suspected central hypothyroidism and inv...

Introduction: The Body Mass Index (BMI) is an essential indicator for the nutritional assessment of children and reflects the exposure to health conditions that are harmful to the development of this population.Objective: To analyze the temporal trends of the BMI of Brazilian children aged 5-10 between 2010 and 2022.Patients and methods: Descriptive ecological study. Data obtained ...

Introduction: Adequate nutritional status of adolescents is essential for their healthy development, with health repercussions in both short-term and adult life.Objective: To analyze the temporal trends of the BMI of Brazilian adolescents (10 to 19 years old) between 2010 and 2022.Patients and methods: Descriptive ecological study. Data obtained from e-SUS Primary Care. The BMI cat...