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...

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...

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. A LUM-201 predictive enrichment marker (PEM) may be used to select previously diagnosed iPGHD patients likely to respond to LUM-201. PEM positivity is defined as 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 mg/kg oral dose o...