IMPE Abstracts

Introduction: Children classified as idiopathic short stature (ISS) may have a monogenic cause that can explain their growth disorder. In this context, genetic tests emerge as a new diagnostic tool. Objectives: To determine the usefulness of WES for the genetic investigation of children with ISS.Patients and Methods: We sequentially enrolled 95 children with ISS without previous genetic testing, except for karyotyping fo...

Mechanisms underlying long-term sustained weight loss and glycemic normalization after obesity surgery involves changes in gut hormone levels, including glucagon-like peptide 1 (GLP-1) and peptide YY (PYY). Designing dual or triple agonists based on glucagon-like peptide (GLP)-1 with glucagon, and/or glucose-dependent insulinotropic polypeptide (GIP) are promising novel approaches for anti-obesity drugs tackling different weight-regulatory pathways, albeit such developments co...

Introduction: To assess testicular function, in patients with differences in sexual development (DSD), the Leydig cell stimulation test with human chorionic gonadotropin hormone (hCG) is performed and testosterone production is measured. There is no uniformity in terms of hCG dose or duration of stimulation. At the National Institute of Pediatrics (INP), this test is performed with 10,000 IU IM, for 4 consecutive days, and a daily sample of testosterone is tak...

Mother who began her illness at the age of 32 years with progressive weakness of extremities, weight loss and dysarthria, diagnosed 1 year later with metastatic medullary thyroid cancer, by DNA analysis of peripheral blood leukocytes (TGC-TGG mutation in codon 634 of the RET gene). A genetic study was performed in the family branch (3 children), with the result of heterozygous mutation in codon 634 of the RET proto-oncogene in 2 children of 11 and 5 years of age. Patient 1: Ma...

LUM-201 (ibutamoren), an agonist of the growth hormone (GH) Secretagogue Receptor 1a (GHSR1a), is an investigational oral GH secretagogue currently in three iPGHD Phase 2 trials. The LUM-201 predictive enrichment marker (PEM) may be used to identify patients previously diagnosed with iPGHD who are likely to respond to LUM-201. PEM positivity is defined as a baseline insulin-like growth factor-1 (IGF-1) level >30 ng/mL and a peak GH of ≥5 ng/mL in response to a single 0.8...

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...

Introduction: Papillary thyroid cancer represents the eighth most frequent neoplasm in pediatrics. In the Instituto Nacional de Pediatría it is the most frequent endocrine neoplasm commonly associated with other thyroid disease.Objective: To evaluate the association between papillary thyroid cancer and risk factors such as sex, autoimmune thyroiditis, history of neoplasia and radiation.<stro...

Introduction: A significant increase in the incidence of precocious puberty secondary to the COVID-19 pandemic has been demonstrated worldwide. This phenomenon appears to be related to lifestyle changes forced by confinement.Objective: To perform a retrospective evaluation of newly diagnosed idiopathic central precocious puberty (ICPP) during and after COVID-19 confinement at the National Institute of Pediatrics (NIP), c...