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...

Background: Translocations involving the X and Y chromosome are rare in humans. Here we describe two cases diagnosed during the investigation of short stature. Case 1: She was born at 38 gestational weeks (GW), with birth weight (BW) SDS -1.5 and birth length (BL) SDS -2.7. At the first assessment, she had a chronological age (CA) of 11.3ys, a height SDS of -2.2, a sitting height-to-height SDS of 4.6, and Madelung´s deformity. The height SDS of her mothe...

Background: Perinatal stress, fetal growth restriction (FGR) or being small for gestational age (SGA) poses a high risk for neonatal hypoglycemia. The exact pathomechanism is unknown. In an animal model, increased levels of catecholamines were found in FGR sheep, causing β-cell adaptation with suppressed intrauterine insulin secretion, subsequently resulting in a hyper-responsive insulin secretion once the adrenergic stimulus subsides, e.g. after birth. W...

Background: The role of Insulin-Like Growth Factor 1 (IGF1) in pre- and postnatal growth and brain development is widely recognized. It binds and activates its transmembrane receptor encoded by the IGF1R gene (15q26.3). Defects of IGF1R produces IGF1 resistance, characterized by pre- and postnatal growth retardation, microcephaly, and normal/elevated IGF1 serum levels, with great phenotypic variability.Aim: To e...

Medullary thyroid carcinoma (MTC) accounts 5% of thyroid malignancies. Sporadic is in approximately 80% and hereditary in 20% of cases. When hereditary it can be associated with other benign endocrine neoplasia’s and/or typical no endocrine diseases, thus configuring the multiple endocrine neoplasia syndromes. Traditional therapies for advanced or metastatic progressive MTC (pMTC) are poorly effective so Tyrosine-kinase inhibitors (TKIs) therapy in children with MTC have...

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...

Background: 46,XX testicular/ovotesticular disorders of sexual development (T/OT DSD) are infrequent congenital conditions characterized by the presence of functional ovarian and testicular parenchyma or only testicular tissue in 46,XX individuals. Affected subjects present with different degrees of virilization of the external genitalia and development of Müllerian and Wolffian derivatives. Our knowledge about these conditions has been enlightened with t...

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 ...

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...

Background: Non-classic forms of Congenital Adrenal hyperplasia (NCCAH) due to 21-hydroxylase deficiency are usually associated with variable degrees of postnatal androgen excess but adequate cortisol and aldosterone production. However, few studies have evaluated cortisol response.Aim: to describe the clinical, biochemical characteristics, and cortisol response to Corticotropin test in a cohort of patients with NCCAH st...